Science.gov

Sample records for meckel diverticulum

  1. Meckel diverticulum in exomphalos minor

    PubMed Central

    Sohn, Hee Ju; Park, Kwi-Won; Lee, Na Mi; Kim, Mi-Kyoung

    2016-01-01

    A congenital hernia into the base of the umbilical cord is known as an exomphalos and when the size of the defect is 5 cm or less and containing only bowel, it is called as exomphalos minor. We present a case of a newborn with an exomphalos minor within a Meckel diverticulum. He underwent surgical resection of the Meckel diverticulum and repair of the abdominal wall defect. To our knowledge, this is the first reported case of Meckel diverticulum in an exomphalos minor in Korea. PMID:27478815

  2. Carcinoid Tumor in Accidental, Asymptomatic Meckel's Diverticulum.

    PubMed

    Baranyai, Zsolt; Jósa, Valeria; Merkel, Keresztely; Zolnai, Zsofia

    2013-01-01

    Although Meckel's diverticulum is the most common congenital gastrointestinal disorder, it is controversial whether asymptomatic diverticula in adults should be respected. The authors report the case of a patient who was operated due to ileus caused by adhesions and a Meckel's diverticulum without any sign of inflammation was accidentally noted and removed. As a surprise, the pathological examination of the diverticulum proved carcinoid tumor, a neuroendocrine malignant tumor. The case raises the importance of the removal of asymptomatic Meckel's diverticulum.

  3. Carcinoid Tumor in Accidental, Asymptomatic Meckel's Diverticulum

    PubMed Central

    Baranyai, Zsolt; Jósa, Valeria; Merkel, Keresztely; Zolnai, Zsofia

    2013-01-01

    Although Meckel's diverticulum is the most common congenital gastrointestinal disorder, it is controversial whether asymptomatic diverticula in adults should be respected. The authors report the case of a patient who was operated due to ileus caused by adhesions and a Meckel's diverticulum without any sign of inflammation was accidentally noted and removed. As a surprise, the pathological examination of the diverticulum proved carcinoid tumor, a neuroendocrine malignant tumor. The case raises the importance of the removal of asymptomatic Meckel's diverticulum. PMID:24470856

  4. Perforation of Meckel's diverticulum with enteroliths.

    PubMed

    Nishikawa, Takeshi; Takei, Yoshiki; Tsuno, Nelson H; Maeda, Mamoru

    2012-08-01

    Perforation of Meckel's diverticulum with enteroliths is a rare complication. Here, we report a case of perforation of Meckel's diverticulum with enteroliths, which could be accurately diagnosed by the preoperative computed tomography (CT). A 46-year-old man with acute onset of severe abdominal pain, and a localized muscle guarding in the right hypochondrium, had a solitary stone detected in the right abdomen by the radiography. The abdominal CT revealed a saclike outpouching of the small intestine, containing air/fluid levels and an enterolith, with surrounding free air and mesenteric inflammatory change in the right paraumbilical area. He was diagnosed as the perforation of Meckel's diverticulum with enterolith, and the emergency operation was indicated. The perforated Meckel's diverticulum was identified approximately 90 cm proximal to the ileocecal valve. The diverticulum was transected at the base, and removed. The patient's postoperative course was uneventful. This case strongly suggested the ability of CT enterography to accurately diagnose pathologies involving the small intestine, such as the perforation of Meckel's diverticulum, which open premises for its use in the diagnosis of acute abdomen preoperatively.

  5. [Giant Meckel's diverticulum in an adult].

    PubMed

    Rivas, Tomas Contreras; Gallardo, Nasser Eluzen; Valenzuela, Sebastian King; Pezoa, María Elena Molina; Zúñiga, José Miguel; Muñoz, Carol Bustamante; Saralic, Biserka Spralja

    2014-10-07

    Meckel's diverticulum results from a partial persistence of the omphalomesenteric duct and is the most common congenital anomaly of the gastrointestinal tract, affecting about 2% of the general population. Its presentation as a giant Meckel's diverticulum (>5 cm) is rare and is associated with major complications. We report a case of a 53 year-old woman with constipation for at least ten years. A colonoscopy from eight years ago suggested megacolon. The patient consults in the last month for abdominal pain associated with anorexia. The computed tomography scan image suggested an ileal megadiverticulum. An exploratory laparotomy revealed a saccular dilatation of the distal ileum of 6 x 15.5 cm, located 20 cm away from the ileocecal valve. We resected the involved segment of distal ileum and performed a manual ileo-ascendo anastomosis. The biopsy showed a saccular dilatation of the wall, lined by small intestinal mucosa with areas of gastric metaplasia, supporting the diagnosis of giant Meckel's diverticulum.

  6. Laparoscopic approach to Meckel's diverticulum

    PubMed Central

    Papparella, Alfonso; Nino, Fabiano; Noviello, Carmine; Marte, Antonio; Parmeggiani, Pio; Martino, Ascanio; Cobellis, Giovanni

    2014-01-01

    AIM: To retrospective review the laparoscopic management of Meckel Diverticulum (MD) in two Italian Pediatric Surgery Centers. METHODS: Between January 2002 and December 2012, 19 trans-umbilical laparoscopic-assisted (TULA) procedures were performed for suspected MD. The children were hospitalized for gastrointestinal bleeding and/or recurrent abdominal pain. Median age at diagnosis was 5.4 years (range 6 mo-15 years). The study included 15 boys and 4 girls. All patients underwent clinical examination, routine laboratory tests, abdominal ultrasound and technetium-99m pertechnetate scan, and patients with bleeding underwent gastrointestinal endoscopy. The abdominal exploration was performed with a 10 mm operative laparoscope. Pneumoperitoneum was established based on the body weight. Systematic overview of the peritoneal cavity allowed the ileum to be grasped with an atraumatic instrument. The complete exploration and surgical treatment of MD were performed extracorporeally, after intestinal exteriorization through the umbilicus. All patients’ demographics, main clinical features, diagnostic investigations, operative time, histopathology reports, conversion rate, hospital stay and complications were registered and analyzed. RESULTS: MD was identified in 17 patients, while 1 had an ileal duplication and 1 a jejunal hemangioma. Fifteen patients had painless intestinal bleeding, while 4 had recurrent abdominal pain and exhibited cyst like structures in an ultrasound study. Eleven patients had a positive technetium-99m pertechnetate scan. In the patients with bleeding, gastrointestinal endoscopy did not name the source of hemorrhage. All patients were subjected to a TULA surgical procedure. An intestinal resection/anastomosis was performed in 14 patients, while 4 had a wedge resection of the diverticulum and 1 underwent stapling diverticulectomy. All surgical procedures were performed without conversion to open laparotomy. Mean operative time was 75 min (range 40

  7. Meckel's diverticulitis: a rare entity of Meckel's diverticulum

    PubMed Central

    Wong, Chee S.; Dupley, Leanne; Varia, Haren N.; Golka, Darek; Linn, Thu

    2017-01-01

    Meckel's diverticulum is the most common congenital abnormality of the small intestine that results from incomplete closure of the vitelline (omphalo-mesenteric) duct. This true diverticulum, ~2 ft from the ileocecal valve commonly found on the anti-mesenteric border of the ileum, is benign and majority asymptomatic. Diagnosis challenges arise when it became inflamed or presented in following ways, for example, haemorrhage (caused by ectopic pepsin—and hydrochloric acid—secreting gastric mucosa), intestinal obstruction (secondary to intussusception or volvulus) or the presence of diverticulum in the hernia sac (Littre's hernia). We report a case of a 59-year-old male who was admitted under the surgical service at Blackpool Victoria Hospital with suspected appendicitis that turned out to be a Meckel's diverticulitis, a rare presentation of an acute abdomen. We discuss the issues involved in his investigation and management as well as perform a literature review comparing different surgical approaches. PMID:28064243

  8. Encountering Meckel's diverticulum in emergency surgery for ascaridial intestinal obstruction

    PubMed Central

    2010-01-01

    Background Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract. In children with intestinal ascariasis, the diverticulum remains asymptomatic or rarely the Ascaris lumbricoides may lead to its complications in the presence of massive intestinal roundworm load. Given that preoperative diagnosis is seldom carried out, when Meckel's diverticulum is found at laparotomy for obstructive intestinal complications of roundworm, the diverticulum should be removed as complications may occur at any time. The aim of this study was to describe the findings of concomitant presence of Meckel's diverticulum who had surgical intervention in symptomatic intestinal ascariasis in children. Methods A retrospective case review study of 14 children who had surgical intervention for symptomatic intestinal ascariasis having the presence of concomitant Meckel's diverticulum was done. The study was done at SMHS Hospital Srinagar, Kashmir. Results A total of the 14 children who had ascaridial intestinal obstruction with concomitant presence of Meckel's diverticulum were studied. Age of children ranged from 4-12 years, male:female ratio was 1.8:1. Nine patients had asymptomatic Meckel's diverticulum, whereas 5 patients with symptomatic signs were found in the course of emergency surgery for ascaridial intestinal obstruction. Conclusion Meckel's diverticulum in intestinal ascariasis may pursue silent course or may be accompanied with complications of the diverticulitis, perforation or the gangrene. Incidental finding of the Meckel's diverticulum in the intestinal ascariasis should have removal. PMID:20529382

  9. Laparoscopic resection for incidentally detected Meckel diverticulum

    PubMed Central

    Bona, Davide; Schipani, Luigi Stefano; Nencioni, Marco; Rubino, Barbara; Bonavina, Luigi

    2008-01-01

    The management of Meckel diverticulum found unexpectedly during an abdominal operation remains controversial. Most published reports have included only patients undergoing diverticulectomy or bowel resection through laparotomy. We report a case of a carcinoid tumor in a Meckel’s diverticulum which was incidentally detected and removed during laparoscopic inguinal hernia repair. Although there is no compelling evidence in the literature to recommend prophylactic diverticulectomy, laparoscopic stapled resection represents a viable and safe approach in healthy individuals undergoing elective surgery for other purposes. PMID:18756607

  10. Meckel's diverticulum perforated by a fishbone. An unusual presentation.

    PubMed

    Fonseca Sosa, Fernando Karel

    2017-02-27

    Finding a Meckel's diverticulum during a laparotomy is rare, operating on a patient for a complication of diverticulum is rare, but if this complication is the result of a perforation of the diverticulum by a foreign body, then we are in the presence of a medical curiosity.

  11. Meckel's diverticulum and ectopic epithelium: Evaluation of a complex relationship

    PubMed Central

    Burjonrappa, Sathyaprasad; Khaing, Phue

    2014-01-01

    Introduction: Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract. Currently, for any incidentally discovered Meckel's diverticulum, the management approach is based on weighing the statistical odds of future complications against the risks of a diverticulectomy. Materials and Methods: The temporal relationship between age at Meckel's diverticulectomy and the presence of ectopic epithelium was evaluated in our series. A meta-analysis of all reported recent literature on this condition was subsequently performed to evaluate the strength of the relationship between ectopic epithelium and symptomatic Meckel's diverticulum. Results: There was a paucity of ectopic epithelium in Meckel's diverticulectomy specimens in infants operated on at less than 1 year of age. Having two or more ectopic epithelia in a diverticulum does not appear to carry an additive risk for complications. The meta-analysis confirmed that ectopic epithelium was the most significant factor that influenced surgical intervention in all series of Meckel's diverticulum. Conclusion: The relationship between ectopic epithelium and the development of symptomatic Meckel's diverticulum is complex. Further understanding of the development of ectopic rests in the diverticulum will facilitate elucidating the pathophysiology in symptomatic cases. PMID:24741211

  12. Rescue Radioguided Laparoscopy Surgery for Meckel's Diverticulum

    PubMed Central

    Deus, Javier; Millera, Alfonso; Andrés, Alejandro; Prats, Enrique; Suarez, Manuel; Gil, Ismael; Salcini, José Luis; Lahoz, Manuel; De Gregorio, Miguel Angel

    2015-01-01

    Abstract The extirpation of Meckel's diverticulum (MD) via conventional or laparoscopic surgery is the definitive treatment. However, certain circumstances may modify or alter this situation and require the application of exceptional measures. We report a case under our observation who previously had an exploratory abdominal laparotomy for a suspected MD; however, the findings were negative. At that time, the diagnosis was established based on low-level gastrointestinal bleeding and isotopic tests that confirmed the existence of the diverticulum. Given the findings of gamma-graphic exploration and the previous negative surgical exploration, a decision was made to remove the lesion by laparoscopic radioguided surgery. The patient underwent bilateral laparoscopic radioguided surgery using a gamma radiation detection probe. The exploration of the abdominal cavity noted the existence of the diverticulum about 60 to 70 cm from the ileocecal valve. In this way, it was possible to proceed with the resection of the bowel loop and perform an intracorporeal anastomosis termino lateral. The postoperative course was uneventful, and the patient was discharged on the fifth postoperative day. We believe that the combination of radioguided surgery and single photon emission computed tomography/computed tomography could be useful for treating lesions in locations that are surgically difficult because of the characteristics of the lesion itself or the peculiarities of an individual patient. PMID:26107668

  13. Meckel Diverticulum Harboring a Rare Gastrointestinal Stromal Tumor

    PubMed Central

    Berry, Andrew C.; Nakshabendi, Rahman; Kanar, Ozdemir; Hamer, Sean

    2017-01-01

    Background: Tumors within a Meckel diverticulum are a rare complication observed in only 0.5%-3.2% of symptomatic cases. The majority of tumors are benign, but some malignant tumors, such as gastrointestinal stromal tumors (GISTs) can occur. Case Report: We report the case of a 48-year-old female who presented with severe abdominal pain and nausea and was found to have a GIST arising from a Meckel diverticulum. Conclusion: The differential diagnosis of a pelvic mass in a middle-aged female presenting with gastrointestinal symptoms must remain broad. With an atypical presentation site, distinguishing benign tumors from malignant tumors such as GISTs is of paramount importance. PMID:28331460

  14. Diagnosis and management of pediatric appendicitis, intussusception, and Meckel diverticulum.

    PubMed

    Pepper, Victoria K; Stanfill, Amy B; Pearl, Richard H

    2012-06-01

    Three of the most common causes of surgical abdominal pain in pediatric patients include appendicitis, Meckel diverticulum, and intussusception. All 3 can present with right lower quadrant pain, and can lead to significant morbidity and even mortality. Although ultrasound is the preferred method of diagnosis with appendicitis and intussusception, considerable variety exists in the modalities needed in the diagnosis of Meckel diverticulum. This article discusses the pathways to diagnosis, the modes of treatment, and the continued areas of controversy. Copyright © 2012 Elsevier Inc. All rights reserved.

  15. "Pantaloon" phytobezoar: an unusual cause of intestinal obstruction associated with Meckel's diverticulum.

    PubMed

    Mares, A J; Finaly, R; Mordechai, J; Motovic, A

    1993-11-01

    An unusual cause of small bowel obstruction associated with Meckel's diverticulum is described in two boys, aged 10 and 11 years. The causal factor was a phytobezoar lodged in the diverticulum in a Y-shaped "pantaloon" fashion.

  16. Perforation of Meckel's diverticulum by an intact fish bone

    PubMed Central

    Mouawad, Nicolas J; Hammond, Stephen; Kaoutzanis, Christodoulos

    2013-01-01

    Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract, with an overall incidence of approximately 2.2%. It is generally noted incidentally during laparotomy for management of other abdominal pathology. Complications are infrequent, developing in 4% of individuals with this abnormality, and are usually seen in childhood. Herein, we discuss the case of a 52-year-old Caucasian man presenting with a 1-day history of worsening central and right-sided abdominal pain. Initial evaluation posed a broad differential however, following conservative measures and unremarkable plain films, the patient developed peritoneal signs necessitating operative intervention. During diagnostic laparoscopy, a Meckel's diverticulum was noted to be inflamed and perforated by an intact fish bone. The patient was treated successfully with a segmental resection and primary anastomosis, and had an uneventful postoperative recovery. PMID:23429021

  17. [Ileocolic intussusception in an adult caused by inverted Meckel's diverticulum].

    PubMed

    Soria-Céspedes, D; Leuchter-Ibarra, J; Ventura-Molina, V; Mora-Constantino, J

    2012-01-01

    Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract. It is found in 2.00% of the population and is more frequent in children. Invagination is an unusual complication that can cause secondary intestinal intussusception. This event is extremely rare and only a few cases have been reported. We present the case of a 19-year-old male who presented with chronic abdominal pain and weight loss of 23 Kg 6 months prior to hospital admittance. The last episode manifested as intense abdominal pain, nausea, vomiting, and diarrhea with a 6-hour progression. Imaging studies established the diagnosis of bowel obstruction and ileocolic intussusception. Laparotomy with ileocolic resection was performed without reducing the intussusception. The histopathologic study reported inverted Meckel's diverticulum at the base of the ileocolic intussusception. Intestinal intussusception in adults, secondary to inverted Meckel's diverticulum is rare and should be considered in the differential diagnosis of patients presenting with abdominal pain and bowel obstruction. Copyright © 2012 Asociación Mexicana de Gastroenterología. Published by Masson Doyma México S.A. All rights reserved.

  18. Inverted Meckel diverticulum as a lead point of small bowel intussusception: misinterpreting case as a lipoma.

    PubMed

    Kim, Kyung Ho; Kang, Kyung A; Lim, Jae Hoon; Lee, Kyung Goo; Kwon, Tae Jung

    2016-01-01

    Inverted Meckel diverticulum is an uncommon cause of intussusception in adults. It may be confused for an intraluminal lipoma. We present a case of small bowel intussusception due to inverted Meckel diverticulum with characteristic computed tomography finding potentially distinguishable from lipoma. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Perforation of Meckel's diverticulum caused by a chicken bone: a case report

    PubMed Central

    2009-01-01

    Introduction Meckel's diverticulum represents a true diverticulum of the ileum containing all three layers of the bowel wall and is found on the wall of the distal ileum, usually about 2 feet from the ileocaecal valve. Although Meckel's diverticulum is a common congenital abnormality of the gastrointestinal tract, it is often difficult to diagnose. Patients with perforation of Meckel's diverticulum may present with right iliac fossa pain, which mimics acute appendicitis. Case presentation A 17-year-old man presented with a 3-day history of lower abdominal pain. On examination, the patient had tenderness in his right iliac fossa. A provisional diagnosis of acute appendicitis was made. The patient was taken to theatre for laparoscopy with the option of appendicectomy. The appendix was found to be normal. An inflamed and perforated Meckel's diverticulum was found to be the cause of the abdominal pain. Meckel's diverticulectomy was performed. The patient made an uneventful recovery and was discharged with further follow-up in the outpatient clinic. Conclusion Complications of Meckel's diverticulum can be fatal and early recognition leads to appropriate management. This case report highlights the importance of considering Meckel's diverticulum as a differential diagnosis of acute abdomen in a young patient. PMID:19192283

  20. Incarceration of Meckel's diverticulum through a ventral incisional defect: a rare presentation of Littre's hernia.

    PubMed

    Salemis, N S

    2009-08-01

    Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract and is the result of the incomplete obliteration of the omphalomesenteric duct. Herniation of Meckel's diverticulum is called Littre's hernia and is a rare occurrence. Herein is described an extremely rare case of incarcerated and strangulated Meckel's diverticulum through an incisional ventral defect in a 59-year-old female patient, who presented with manifestations of acute surgical abdomen. At emergency laparotomy, a strangulated small-bowel loop containing a Meckel's diverticulum was found, which had migrated through the subcutaneous tissues to the right iliac fossa, where a painful mass was palpated on admission. Segmental resection of the ischemic ileum was performed and the abdomen was closed without the use of a prosthetic mesh. Histopathological findings were suggestive of a true diverticulum containing heterotopic gastric mucosa.

  1. Axial Torsion of Gangrenous Meckel's Diverticulum Causing Small Bowel Obstruction

    PubMed Central

    Sasikumar, K.; Noonavath, Ravinder Naik; Sreenath, G. S.; Maroju, Nanda Kishore

    2013-01-01

    Meckel's diverticulum (MD) is a commonly encountered congenital anomaly of the small intestine. We report an extremely unusual case of an axially torted, gangrenous MD presenting as acute intestinal obstruction. A 26-year-old male patient presented to our emergency department with 3 days history of abdominal pain, distention and bilious vomiting. On laparotomy, there was minimal hemorrhagic fluid localized in right iliac fossa and small bowel loops were dilated. A MD was seen attached to the mesentery of nonadjacent small bowel by a peritoneal band. The diverticulum was axially torted and gangrenous. In addition, there was compression of ileum by the peritoneal band resulting in intestinal obstruction, which was relieved on dividing the band. Resection and anastomosis of the small bowel including the MD was performed. We hereby report a rare and unusual complication of a MD. Although treatment outcome is generally good, pre-operative diagnosis is often difficult. PMID:24741431

  2. Bleeding Meckel's diverticulum diagnosis: an unusual indication for computed tomography.

    PubMed

    Danzer, D; Gervaz, P; Platon, A; Poletti, P A

    2003-01-01

    Despite the wide use of modern investigation techniques, the diagnosis of complications related to Meckel's diverticulum (MD) remains difficult. Arteriography is commonly indicated for acute bleeding, and radionuclide scans may help in identifying the site of intestinal hemorrhage. In contrast, computed tomography (CT) is usually considered little use in the diagnosis of bleeding MD. We present the case of a young patient with massive gastrointestinal hemorrhage, in whom the diagnosis of MD bleeding was preoperatively made with contrast-enhanced CT after two negatives arteriographies.

  3. Intussusception associated with a Meckel's diverticulum and a duplication cyst.

    PubMed

    Milbrandt, Kris; Sigalet, David

    2008-12-01

    Intussusception is a frequent cause for bowel obstructions and pediatric surgical consults. First described by Barbette in 1674, the etiology and treatment of intussusception has undergone several revisions for the last 300 years. Currently, we understand most intussusceptions in young children to be of idiopathic in nature with the incidence of pathologic lead points increasing with the age of the child. Although both Meckel's diverticulum and duplication cysts have both been reported numerous times in the past as a source of a lead point, we report, to our knowledge, the only case of both found in a child requiring operative reduction.

  4. Pulse granuloma involving Meckel's diverticulum: a case report and literature review.

    PubMed

    Karp, J K; Davis, A; Read, P J; Mashayekh, A; Bombonati, A; Palazzo, F

    2013-04-01

    Pulse granuloma is a rare, benign entity that most likely represents a reaction to vegetable material and is characterized by hyaline rings and foreign-body giant cells. We report a case of a pulse granuloma involving Meckel's diverticulum. The patient presented with abdominal pain and radiological findings consistent with Meckel's diverticulum. Microscopic examination of the resected tissue confirmed diagnosis of Meckel's diverticulum with small bowel mucosa. Peridiverticular foreign-body giant cells, hyaline rings and circular structures containing calcified basophilic granules were also identified, consistent with pulse granuloma. Pulse granulomas have been reported in a variety of locations, most commonly in the oral cavity. To the best of our knowledge, this is the first reported example of pulse granuloma in Meckel's diverticulum. Familiarity with pulse granuloma allows for the timely and accurate diagnosis of this entity, particularly in sites not previously described in the literature.

  5. Computed tomography of complicated Meckel's diverticulum in adults: a pictorial review.

    PubMed

    Platon, Alexandra; Gervaz, Pascal; Becker, Christoph D; Morel, Philippe; Poletti, Pierre-Alexandre

    2010-05-01

    OBJECTIVE: To show various CT aspects of complicated Meckel's diverticulum in adult patients to facilitate the preoperative diagnosis of this rare pathology in emergency settings. METHODS: A computer search of medical records over a 15 year period identified 23 adult patients who underwent surgery for acute abdomen generated by a complicated Meckel's diverticulum. CT images available for review were analyzed, and some specific patterns leading to the diagnosis of complicated Meckel's diverticulum are presented in this review. RESULTS: Complications were related to inflammation (14 patients), bleeding (5 patients), intestinal obstruction (3 patients), and penetrating foreign body (1 patient). The presence of a Meckel's diverticulum was usually suggested at CT scan by an abnormal outpouching, blind-ending digestive structure connected to the terminal ileum by a neck of variable caliber. Depending on the type of complications, the diverticulum was surrounded by mesenteric inflammatory changes, or presented as a localized fluid or air-fluid collection contiguous with the terminal ileum. The diverticulum was also the source of active bleeding or acted as the lead point to intestinal obstruction or intussusception. CONCLUSION: CT findings of complicated Meckel's diverticulum are polymorphic and should be considered in the evaluation of adult patients with acute abdomen.

  6. Mesenteric Meckel's diverticulum: an unusual cause of small bowel intussusception.

    PubMed

    Abbas, Syed Hussain; Akbari, Khalid; Mason, John; Booth, Michael

    2016-04-08

    Meckel's diverticulum (MD) is the commonest congenital anomaly of the small intestine, affecting 1-4% of the population. Cardinal features emphasise an antimesenteric location two feet proximal to the ileocaecal valve, with a separate mesenteric blood supply and involvement of all layers of the small intestine. However, reports of MD arising from the mesenteric border of the small intestine are rare in the surgical literature. This report examines the case of a 45-year-old woman presenting with a 6-month history of episodic central abdominal pain and microcytic anaemia who underwent an elective diagnostic laparoscopy as initial CT findings were inconclusive. Intraoperatively, she was found to have small bowel intussusception approximately 40 cm proximal to the ileocaecal valve. Macroscopic examination of the resected small bowel segment revealed a mesenteric outpouching that was confirmed as mesenteric MD on histopathological analysis. Postoperatively, the patient recovered with no surgical complications and full symptom resolution. 2016 BMJ Publishing Group Ltd.

  7. Invaginated Meckel's diverticulum: a rare cause of small intestine intussusception in adults.

    PubMed

    Rana, Nauman Anwar; Rathore, Muhammad Omar; Khan, Muhammad Usman

    2013-04-01

    Intussusception is commonly seen in infants. It is occasionally found in adults usually due to carcinomas, colonic diverticuli, polyps and rarely Meckel's diverticulum. An adult male presented with upper abdominal pain, nausea, anorexia and loose stools. The initial investigative workup was unremarkable and patient responded to treatment given for acute gastroenteritis. After 3 days, the pain recurred in right iliac fossa with rebound tenderness and leukocytosis. Surgery was performed with provisional diagnoses of acute appendicitis and/or acute Meckel's diverticulitis. Per-operative findings revealed invaginated Meckel's diverticulum causing non-obstructing intussusception.

  8. Acute appendicitis and carcinoid tumor in Meckel's diverticulum. Three pathologies in one: a case report.

    PubMed

    Mudatsakis, N; Paraskakis, S; Lasithiotakis, K; Andreadakis, E; Karatsis, P

    2011-10-01

    Incidental carcinoid tumor of the Meckel's diverticulum is an uncommon event. Herein, a case of a carcinoid tumor in Meckel's diverticulum that was incidentally found in a patient with acute appendicitis is presented. A 42-year-old Caucasian man presented with acute abdomen and clinical signs of acute appendicitis. A typical appendectomy was performed during which further abdominal exploration revealed a Meckel's diverticulum 60 cm proximal to the ileocecal valve, with an irregular and somewhat indurated serosal region on one side. A stapled diverticulectomy was performed. Pathology revealed an incidental carcinoid tumor measuring 1 cm within the Meckel's diverticulum. CT scan of the abdomen and 24-h urine 5-hydroxyindoleacetic acid results were normal. The patient had an uneventful recovery and was discharged at the 5th postoperative day. He is alive and without evidence of disease 23 months after the operation. Coexistence of acute appendicitis along with an incidental Meckel's diverticulum raises controversies in their surgical management. We discuss the issues in managing patients with two or more of these coexistent pathologies.

  9. Torsion of Meckel's diverticulum as a cause of small bowel obstruction: A case report.

    PubMed

    Murruste, Marko; Rajaste, Geidi; Kase, Karri

    2014-10-27

    Axial torsion and necrosis of Meckel's diverticulum causing simultaneous mechanical small bowel obstruction are the rarest complications of this congenital anomaly. This kind of pathology has been reported only eleven times. Our case report presents this very unusual case of Meckel's diverticulum. A 41-year-old man presented at the emergency department with complaints of crampy abdominal pain, nausea and retention of stool and gases. Clinical diagnosis was small bowel obstruction. Because the origin of obstruction was unknown, computer tomography was indicated. Computed tomography (CT)-scan revealed dilated small bowel loops with multiple air-fluid levels; the oral contrast medium had reached the jejunum and proximal parts of the ileum but not the distal small bowel loops or the large bowel; in the right mid-abdomen there was a 11 cm × 6.4 cm × 7.8 cm fluid containing cavity with thickened wall, which was considered a dilated bowel-loop or cyst or diverticulum. Initially the patient was treated conservatively. Because of persistent abdominal pain emergency laparotomy was indicated. Abdominal exploration revealed distended small bowel loops proximal to the obstruction, and a large (12 cm × 14 cm) Meckel's diverticulum at the site of obstruction. Meckel's diverticulum was axially rotated by 720°, which caused small bowel obstruction and diverticular necrosis. About 20 cm of the small bowel with Meckel's diverticulum was resected. The postoperative course was uneventful and the patient was discharged on the fifth postoperative day. We recommend CT-scan as the most useful diagnostic tool in bowel obstruction of unknown origin. In cases of Meckel's diverticulum causing small bowel obstruction, prompt surgical treatment is indicated; delay in diagnosis and in adequate treatment may lead to bowel necrosis and peritonitis.

  10. Enterovesical fistula, a rare complication of Meckel's diverticulum: A case report.

    PubMed

    M A, Bourguiba; M, Gharbi; M, Ghalleb; A, Ben Taher; F, Souai; Y, Bensafta; S, Sayari; M, Ben Moussa

    2017-01-01

    Enterovesical fistulas usually result from diverticulitis, Crohn's disease, or colorectal cancer. A perforated Meckel's diverticulum can exceptionally result in an vesico-diverticulum fistula, as noted in only seven previously reported cases. A 35-year old Arabic male, quadriplegic,who presented epigastralgia evolving for a week, associated with abdominal distension and cloudy urine. On examination he was feverish (38.5°C), dehydrated with tenderness in the entire distended abdomen; rectal examination revealed a hypotonic sphincter with no other abnormality. After investigations, acute peritonitis diagnosis was retained. Exploratory laparotomy revealed a vesico-diverticular fistula resulting from a performed Meckel's diverticulum. Diverticulectomy, ileostomy and bladder sutures were performed after peritoneal cleansing. The postoperative course was uneventful. The anatomo-pathological examination confirmed the diagnosis of a perforated Meckel's diverticulum that did not contain ectopic gastric or pancreatic tissue. Vesico-diverticular fistula resulting from a perforated Meckel's diverticulum is a rare complication. To our knowledge, this is only the fourth reported case which is not associated to inflammatory bowel disease. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  11. Laparoscopic Treatment of Bowel Obstruction Due to a Bezoar in a Meckel's Diverticulum

    PubMed Central

    de Moya, Marc A.

    2011-01-01

    Background and Objectives: Meckel's diverticulum is a common anomaly of the gastrointestinal tract that may result in gastrointestinal bleeding, diverticulitis, and small bowel obstruction. This report describes the use of laparoscopy to treat a rare complication of Meckel's diverticulum–small bowel obstruction due to phytobezoar impaction. More generally, it provides an example of the feasibility and utility of a laparoscopic approach to small bowel obstructions of unknown causes. Methods: A 34-year-old male presented to the emergency department complaining of episodic abdominal pain and vomiting. He had no history of abdominal surgery. His vital signs were stable, and his abdomen was distended, but only mildly tender. He had no abdominal wall hernias on examination. Imaging was consistent with small bowel obstruction. He was brought to the operating room where laparoscopy revealed a Meckel's diverticulum with an impacted phytobezoar as the source of obstruction. The diverticulum was resected and the phytobezoar removed laparoscopically. Results: The patient recovered well and was discharged home on the third postoperative day, tolerating a regular diet. Conclusions: Phytobezoar impaction in a Meckel's diverticulum causing small bowel obstruction is a rare event. It can be effectively treated laparoscopically. This case provides an example of the potential utility of laparoscopy in treating small bowel obstructions of unclear etiology. PMID:22643518

  12. Intussusception caused by an inverted Meckel's diverticulum: a rare cause of small bowel obstruction in adults.

    PubMed

    Bouassida, Mahdi; Feidi, Bilel; Ben Ali, Mechaal; Chtourou, Mohamed Fadhel; Krifa, Marouene; Sassi, Selim; Chebbi, Fathi; Mighri, Mohamed Mongi; Touinsi, Hassen; Sassi, Sadok

    2011-01-01

    Adult intussusception due to Meckel's diverticulum is an uncommon cause of intestinal obstruction. However, the surgeon should still be suspicious of this condition since the non specific symptoms and the rarity of it make a preoperative diagnosis uncertain. Considering the secondary nature of adult intussusception and the necessity of early surgical intervention to avoid morbidity and mortality, we report one case of intussusception due to Meckel's diverticulum in an adult. A 22-year-old patient was admitted to our hospital with vomiting and abdominal pain. The abdomen was hard with tenderness. We diagnosed an acute small bowel obstruction and performed emergency surgery. The intra operative findings were distention of the small bowel and intussusception of ileus due to an inverted Meckel's diverticulum located 70 cm from the ileocecal valve. 30 cm ischemic loop was identified. A segmental small bowel resection and hand-sewn anastomosis was performed. Histopathology distinguished Meckel's diverticulum measuring 5 cm x 3.5 cm x 1 cm and no signs of malignancy.

  13. Perforated Meckel's diverticulum containing a carcinoid tumor successfully treated by the laparoscopic approach: Case report

    PubMed Central

    Curbelo-Peña, Yuhamy; Dardano-Berriel, Juan; Guedes-De la Puente, Xavier; Saladich-Cubero, Maria; Stickar, Tomas; De Caralt-Mestres, Enric

    2016-01-01

    Mekel's diverticulum is a gastrointestinal malformation. Occurs in one of every 40 patients. It is usually asymptomatic whereas complications can be developed in 2% to 4%. The report is based on a 41-year old male, who attended to emergency, complaining of right lower quadrant abdominal pain. Blood tests showed high level of inflammatory markers. With acute appendicitis as presumptive diagnosis, laparoscopy was performed. The intraoperative findings were: a perforated Mekel's diverticulum with normal cecal appendix. Mechanical diverticular resection was made. The patient was successfully recovered from surgery. Histopathology examination showed: Meckel's diverticulum perforated with acute inflammation and neuroendocrine tumor (G1) pT1. Mekel's diverticulum is rarely affected by inflammatory complications and just few cases are associated with tumors. However, has ever been described before, coexisting both situations, being our patient the first reported with this exceptional clinical presentation, and treated successfully by laparoscopic approach. PMID:27251847

  14. Fishbone perforation through a Meckel's diverticulum: a rare laparoscopic diagnosis in acute abdominal pain.

    PubMed

    Christensen, H

    1999-08-01

    The use of diagnostic laparoscopy in acute abdominal pain, especially when patients have been admitted for acute pain in the lower abdominal quadrants, improves the accuracy of diagnosis and leads to improvements in treatment procedures. A case is reported of a 24-year-old woman admitted under suspicion of appendicitis. The appendix was found to be normal, and a perforation caused by a fishbone was discovered in a Meckel's diverticulum. The diverticulum was resected by a combined laparoscopic and open procedure. Diagnostic laparoscopy should be performed routinely in cases of acute abdominal pain in the lower quadrants of suspected appendiceal origin to avoid overlooking other causes of the symptoms.

  15. Unusual association of Meckel's diverticulum with double appendix – A rare finding

    PubMed Central

    Panda, Sangram Keshari; Prasad, C.; Tirkey, Roshni; Rajesh, V.; Mishra, Jagadananda; Dora, Rajesh Kumar

    2014-01-01

    INTRODUCTION Appendix duplication is an extremely rare congenital anomaly that is seen in 0.004–0.009% of appendectomy specimens. Duplicated appendix may be associated with number of congenital anomalies. PRESENTATION OF CASE In this case report, we are presenting a rare case of duplicated vermiform appendix with a co-existing Meckel's diverticulum. DISCUSSION Anomalies of appendix are rare and duplication of vermiform appendix is extremely rare. In 1936, Cave classified appendiceal duplication for the first time which was modified by Wallbridge in 1963 into three types. Concomitant malformations or duplications of the large intestine or the genitourinary system may be present, especially in types B1 and C probably due to their similar embryological origin. Here we are presenting a very rare case report of type B1 appendix anomaly associated with Meckel's diverticulum. CONCLUSION Surgeons should be aware of these conditions because of the possible clinical implications. PMID:25462057

  16. A Triad of Congenital Diaphragmatic Hernia, Meckel's Diverticulum, and Heterotopic Pancreas

    PubMed Central

    Mandhan, Parkash; Al Saied, Amer; Ali, Mansour J.

    2014-01-01

    Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel's diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development. PMID:24804135

  17. Small bowel obstruction due to phytobezoar formation within meckel diverticulum: CT findings

    SciTech Connect

    Frazzini, V.I. Jr.; English, W.J.; Bashist, B.; Moore, E.

    1996-05-01

    Intestinal obstruction due to a phytobezoar within a Meckel diverticulum is exceedingly rare, with only seven reported cases in the surgical literature. The most important precipitating factor is the ingestion of agents high in fiber and cellulose. Small bowel obstruction in all but one case was due to retrograde propagation of the bezoar into the small bowel lumen. We report the clinical and CT findings in such a patient following a vegetarian diet. 14 refs., 2 figs.

  18. Cushing syndrome secondary to ectopic adrenocorticotropic hormone secretion from a Meckel diverticulum neuroendocrine tumor: case report.

    PubMed

    Paun, Diana Loreta; Vija, Lavinia; Stan, Emilia; Banica, Alexandra; Bobeica, Elena; Terzea, Dana; Poiana, Catalina; Badiu, Corin; Paun, Sorin

    2015-11-26

    Ectopic production of adrenocorticotropic hormone (ACTH) by neuroendocrine tumours (NET) is a rare condition, occult presentations often hampering the diagnosis. Although NET are relatively frequent in the ileon and Meckel diverticulum, we describe the first Cushing's syndrome due to ectopic adrenocorticotropic syndrome (CS-EAS) arising from a Meckel diverticulum. A 44-year-old man was admitted with recent onset of diabetes, myopathy, edema and hypokalemic metabolic alkalosis consistent with Cushing's syndrome. Both basal and dynamic laboratory evaluation suggested CS-EAS. Laboratory testing also showed high serum levels of chromogranin A (CgA) and urinary 5-hydroxyindoleacetic acid (5HIAA). Pituitary and neck/thorax/abdomen/pelvis imaging proved to be normal, while somatostatin analogue ((99m)Tc-HYNIC-TOC) scintigraphy revealed increased focalized ileum uptake on the right iliac fossa. Pre-operative ketoconazole and sandostatin treatment controlled the hypercortisolism within a month. Pathological analysis of the resected submucosal 1.8 cm tumour of the Meckel diverticulum and a metastatic local lymph node confirmed a well differentiated neuroendocrine tumour (grade I), whereas immunohistochemistry was positive for ACTH, chromogranin A and synaptophysin. Post-operative clinical and biochemical resolution of Cushing's syndrome was followed by normalization of both CgA and 5HIAA, which were maintained at the 6 month follow-up. The identification, characterization and follow-up of this rare cause of ectopic ACTH secretion is important in order to assess the long-term prognostic and management.

  19. Symptomatic paediatric Meckel's diverticulum: stratified diagnostic indicators and accuracy of Meckel's scan.

    PubMed

    Al Janabi, Mazin; Samuel, Madan; Kahlenberg, Andrea; Kumar, Sujith; Al-Janabi, Mina

    2014-11-01

    The aim of the study was to delineate stratified diagnostic indicants and evaluate the diagnostic accuracy of technetium-99m (Tc)-pertechnetate scintigraphy in children with symptomatic Meckel's diverticulum (MD). This was a prospective linear observational study conducted over a period of 5 years on 73 children with a diagnosis of symptomatic MD. The independent variables assessed were age, sex, weight-for-age z-scores, clinical presentation, complications of MD, laparoscopic findings, haematologic and biochemical results, radiological results, and histological findings. Stepwise multiple logistic regression analysis was performed to determine the diagnostic markers. The sensitivity and specificity of Tc-pertechnetate scintigraphy were assessed. The incidence of MD with complications was 44%. The prevalence of ectopic gastric mucosa in histological specimens was 84%. There was a good correlation between rectal bleeding and the presence of ectopic gastric mucosa [r=0.94; 95% confidence interval (CI): 0.77-0.98]. Haematochezia associated with a drop in haemoglobin (>2 g/dl) was diagnostic of MD with ectopic gastric mucosa in children (n=42, 58%; P=0.006; odds ratio 1.99; 95% CI: 1.14-2.42). Bilious vomiting was diagnostic of complicated MD (n=12, 16%; P=0.007; odds ratio 1.89; 95% CI: 1.12-3.22). The sensitivity of Tc-pertechnetate scintigraphy was 84% and specificity was 22%. The positive predictive value was 0.64 and the negative predictive value was 0.22. The sensitivity and specificity of Tc-pertechnetate scintigraphy were dependent on the quantity and functional quality of the heterotopic gastric mucosa. The preoperative median z-score was -1.4 and the postoperative median z-score was -1.2. Tc-pertechnetate scintigraphy had a truncated predictive value. Its contribution in clinical decision making was poor. Clinical suspicion of MD should be high in children presenting with haematochezia associated with a drop in haemoglobin by more than 2 g/dl. Laparoscopy is

  20. [Meckel's diverticulum duplication. Case report and literature review].

    PubMed

    Blando-Ramírez, Juan Salvador; Ocádiz-Carrasco, Jesús; Gutiérrez-Padilla, Ruth Alicia; Vicencio-Tovar, Alfredo; Ricardez-García, José Abenamar

    2014-01-01

    Antecedentes: el divertículo de Meckel es la anomalía congénita más común del tubo digestivo. El diagnóstico preoperatorio es difícil de establecer, por su variable presentación clínica. Caso clínico: paciente femenina de 61 años de edad, con antecedente de cuadros de oclusión intestinal repetitivos ocho meses antes de nuestra valoración. En el último internamiento tuvo: desequilibrio hidroelectrolítico, dolor persistente y falta de respuesta al tratamiento médico; por esto se le realizó una laparotomía exploradora que descartó el síndrome adherencial, y como hallazgo dos defectos diverticulares a 40 y 70 cm de la válvula ileocecal, con torsión sobre su eje. El reporte histopatológico confirmó la existencia de dos divertículos de Meckel con cambios de tipo inflamatorio hemorrágico y mucosa gástrica heterotópica de tipo antral. Conclusión: la duplicación del divertículo de Meckel es un hallazgo raro, con solo nueve casos publicados en la bibliografía internacional. El diagnóstico se realiza, frecuentemente, como hallazgo transoperatorio. El tratamiento del divertículo sintomático es quirúrgico; sin embargo, en el asintomático existe controversia y depende del criterio del cirujano y de las características propias de cada paciente.

  1. [Adenocarcinoma mucoproductor in Meckel's diverticulum. Case report and review].

    PubMed

    Ramírez-González, Luis Ricardo; Leonher-Ruezga, Karla Lisseth; Plascencia-Posadas, Francisco Javier; Jiménez-Gómez, José Alfredo; López-Zamudio, José; Fuentes-Orozco, Clotilde

    2014-01-01

    Antecedentes: el divertículo de Meckel es la anomalía congénita más frecuente en el intestino delgado, que resulta de la obliteración incompleta del conducto onfalomesentérico; su diagnóstico suele ser incidental, pocas veces con sangrado, obstrucción, diverticulitis o en casos raros una neoplasia. Caso clínico: paciente femenina de 67 años de edad, que inició su padecimiento con síntomas urinarios (disuria, polaquiuria, pujo y tenesmo vesical). El cistograma demostró: defecto en el domo de la vejiga, bordes irregulares y efecto de compresión. La tomografía computada reportó: vejiga con lesión hipodensa infiltrante en el domo vesical, al resecarla se encontró un divertículo de Meckel con un tumor infiltrante; el estudio histopatológico confirmó el diagnóstico y demostró los bordes libres; todos los estudios de extensión resultaron sin actividad tumoral. Conclusiones: el adenocarcinoma mucoproductor derivado de un divertículo de Meckel es una entidad clínica que debido a sus síntomas inespecíficos y variabilidad de presentación sólo se diagnostica por lo que se aprecia en las imágenes radiológicas. Este adenocarcinoma tiene un alto índice de mortalidad pero baja prevalencia.

  2. Gallstone ileus associated with impaction at Meckel's diverticulum: Case report and literature review.

    PubMed

    Lamba, Harveen K; Shi, Yiwen; Prabhu, Ajita

    2016-11-27

    Gallstone ileus due to erosion of one or more gallstones into the gastrointestinal tract is an uncommon cause of small bowel obstruction. The site of impaction is usually distal ileum, and less commonly the jejunum, colon, duodenum, or stomach. We report a rare case of gallstone ileus with impaction at the proximal small bowel and at a Meckel's diverticulum (MD) in a 64-year-old woman managed with laparoscopic converted to open small bowel resections. Patient was discharged home in stable condition and remained asymptomatic at 6-mo follow up. We review the current literature on surgical approaches to MD and gallstone ileus. Diverticulectomy or segmental resection is preferred for complicated MD. For gallstone ileus, simple enterolithotomy or segmental resection are the most the most favored especially in older co-morbid patients due to lower mortality rates and the rarity of recurrent gallstone ileus. In addition, laparoscopy has been increasingly reported as a safe approach to manage gallstone ileus.

  3. Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18.

    PubMed

    Hayashi, Anri; Kumada, Tomohiro; Furukawa, Oki; Nozaki, Fumihito; Hiejima, Ikuko; Shibata, Minoru; Kusunoki, Takashi; Fujii, Tatsuya

    2015-10-01

    Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.

  4. Unusual presentation of obscure Meckel diverticulum treated with robot-assisted diverticulectomy

    PubMed Central

    Pandey, Sagar; Fan, Miao; Xu, Zhe; Yan, Chaogui; Zhu, Junfeng; Li, Xiuhong

    2016-01-01

    Abstract Introduction: Meckel diverticulum (MD) is the most common congenital abnormality of gastrointestinal tract. Tough believed to occur in 2% of population, most of them remain veiled because majority are clinically asymptomatic and remain obscure in radiological examination. Clinical Findings and Diagnosis: A 26-year-old male with episodic black colored stool since last 10 years. Tough symptomatic, diagnosis of pathological lesion, and the bleeding site could not be established with any of the sophisticated diagnostic technique. After 10 years, it was finally diagnosed as MD with careful observation of bowel loops on computed tomography enterography (CTE) where remnant of vitelline vessel and hyper-enhancing nodule are seen along the wall of diverticular loop. Interventions and outcomes: The patient underwent robot assisted laparoscopic surgery with excision of diverticular loop. To the best of our knowledge, this robot-assistant Meckel diverculectomy is probably the first reported surgical procedure in PubMed. Follow-up for 3 month showed no complication or recurrence. Conclusion: Every case is unique and we must be aware and remain alert in tracing the possible morphological variation of the case. Here, we present one unique but rare feature of MD, which helped us in making diagnosis. PMID:27741148

  5. Wireless Capsule Endoscopy Detects Meckel's Diverticulum in a Child with Unexplained Intestinal Blood Loss.

    PubMed

    Xinias, I; Mavroudi, A; Fotoulaki, M; Tsikopoulos, G; Kalampakas, A; Imvrios, G

    2012-09-01

    Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal (GI) tract, affecting about 2% of the population. Most cases of Meckel's diverticula are asymptomatic. The diagnosis of symptomatic MD is often difficult to make. We report the case of an 8-year-old boy who presented with GI bleeding due to MD. The diagnostic difficulties after an initial negative endoscopic evaluation and the diagnostic value of the various endoscopic procedures are discussed. The patient had suffered from bright red stools for 20 h before hospital admission. GI scintigraphy with (99m)Tc-Na-pertechnetate was negative for heterotopic gastric tissue in the small bowel area. Colonoscopy performed in order to exclude Crohn's disease was also negative. He was placed on ranitidine at a dose of 6 mg/kg body weight twice daily. The patient remained asymptomatic over a period of 6 months before he was readmitted due to macroscopic rectal bleeding. Upper endoscopy and colonoscopy used to investigate the source of bleeding showed normal macroscopic findings. Radiolabeling of blood constituents with (99m)Tc on delayed imaging showed radionucleotide concentration in the ascending and transverse colon suggestive of a lesion in the ileocecal area. Further investigation with the use of wireless capsule endoscopy revealed a MD. Wireless capsule endoscopy may thus be indicated for patients with GI blood loss when other diagnostic methods, such as upper and lower endoscopy and colonoscopy, have failed to identify the source of bleeding.

  6. Acute symptomatic Meckel diverticulum management. Our experience on seven consecutive cases.

    PubMed

    Robustelli, Umberto; Manguso, Francesco; Armellino, Mariano Fortunato; Mannelli, Maria Pia; Massa, Maria Rosaria; Forner, Anna Lucia; Bellotti, Roberto; Ambrosino, Francesco; Severino, Beatrice Ulloa

    2014-01-01

    Meckel's diverticulum (MD ) is the most common congenital anomaly of the gastrointestinal tract. We revalued clinical records of patients discharged from Unit of Urgent and General Surgery of Highly Specialized Hospital "A.O.R.N. Antonio Cardarelli" of Naples with diagnosis of acute pathology associated to complicated MD from 1(st) January 2011 to 30(th) November 2012. Seven consecutive cases have been chosen: five males (71,4%) and two females (28,6%). The age ranges over from 13 to 50 years with a 28 years average. Four of them were submitted to emergency surgical intervention for hemorrhage from gastro-enteric tract (57%), two for bowel obstruction (29%) and one for acute appendicitis (14%). In all cases sample was send to histological examination. Two samples showed normal epithelial mucosa. Four of them showed ectopic mucosa inside the diverticulum: three gastric and one pancreatic ectopic mucosa focal areas. The last case showed normal epithelial cells but with ulcerated and hemorrhagic areas. Four samples of patients with hemorrhage from gastroenteric tract showed at histological examination: a case of normal mucosa, a case of gastric mucosa areas, one of pancreatic ectopic tissue and the last with normal mucosa but ulcerated and with bleeding areas.In our experience we never speculated that acute symptomatology depended on complicated MD and diagnosis was always done during laparotomy. We think that MD removal is always the correct choice, so that future complications such as neoplasm can be avoided. MD simple resection by Stapler at the base of diverticulum is the correct choice.

  7. Meckel's Diverticulum

    MedlinePlus

    ... Birth Control Family HealthInfants and Toddlers Kids and Teens Pregnancy and Childbirth Women Men SeniorsIn The NewsYour Health ... Birth Control Family HealthInfants and Toddlers Kids and Teens Pregnancy and Childbirth Women Men SeniorsIn The NewsYour Health ...

  8. Meckel's diverticulum

    MedlinePlus

    ... series References Kahn E, Daum F. Anatomy, histology, embryology, and developmental anomalies of the small and large ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  9. Mesenteric Meckel's diverticulum or intestinal duplication cyst: A case report with review of literature.

    PubMed

    Hamza, Astrit R; Bicaj, Besnik X; Kurshumliu, Fisnik I; Zejnullahu, Valon A; Sada, Fatos E; Krasniqi, Avdyl S

    2016-01-01

    A Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal (GI) tract. They arise from the middle-to-distal ileum. Contrary to MD, intestinal duplication cyst (IDC) is uncommon congenital anomaly of GI, but can occur anywhere from the tongue to the anus. Here we report an 18-year-old male who presented to the department of abdominal surgery with chronic abdominal pain, frequent vomiting and mild abdominal distension. Following radiological investigation, a laparotomy was performed with the preoperative diagnosis of a mesenteric cyst. Intraoperativelly it became apparent that the cystic mass was on the mesenteric aspect of the small bowel without intestinal communication. Resection of the cyst was performed. Histological examination of the specimen revealed the presence of gastric tissue, which resembles MD. Although, the exact diagnosis of this cystic mass is ambiguous between MD and IDC, because of similar clinical signs, their complications and presence of gastric mucosa, however surgical treatment is gold standard of both. This case report underlines the necessity of how to differentiate between MD and IDC, although, surgical management is recommended for both. Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  10. Meckel's diverticulectomy

    MedlinePlus

    ... bowel). This pouch is called a Meckel diverticulum . Description You will receive general anesthesia before surgery. This ... surgery using a laparoscope. The laparoscope is an instrument that looks like a small telescope with a ...

  11. Heterotopic pancreas in Meckel's diverticulum in a 7-year-old child with intussusception and recurrent gastrointestinal bleeding: case report and literature review focusing on diagnostic controversies.

    PubMed

    Riccardo, Guanà; Valeria, Bucci; Giulia, Carbonaro; Alessia, Cerrina; Luisa, Ferrero; Elisabetta, Teruzzi; Alessandro, Mussa; Isabella, Morra; Jürgen, Schleef

    2014-01-01

    Meckel's diverticulum, the most common congenital abnormality of the small intestine, may be associated to heterotopic pancreas, often diagnosed incidentally on histopathological examination. Intussusception affects infants between the ages of 5 and 9 months, but it may also occur in older children, teenagers and adults, and in some cases can be derived by a Meckel's diverticulum resulting in acute abdomen. We analyse the management and the recent literature on similar cases, describing diagnostic options. In May 2013, a 7-year-old girl admitted to our hospital with recurrent gastrointestinal bleeding, was discovered to have an ileoileal intussusception with a leading Meckel's diverticulum with heterotopic pancreatic tissue. This association is rare evidence in children and its proper management can be controversial, in particular from a diagnostic point of view. In such cases, preoperative radiological diagnosis can be only suspected in the presence of suggestive signs, more often depicted by ultrasound or computed tomography scan. During laparotomy an accurate exploration of all ileum is recommended, for the possibility to find others heterotopic segments.

  12. Incidental finding of carcinoid tumor on Meckel's diverticulum: case report and literature review, should prophylactic resection be recommended?

    PubMed

    Caracappa, Daniela; Gullà, Nino; Lombardo, Francesco; Burini, Gloria; Castellani, Elisa; Boselli, Carlo; Gemini, Alessandro; Burattini, Maria Federica; Covarelli, Piero; Noya, Giuseppe

    2014-05-08

    Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract and is caused by incomplete obliteration of the vitelline duct during intrauterine life. MD affects less than 2% of the population. In most cases, MD is asymptomatic and the estimated average complication risk of MD carriers, which is inversely proportional to age, ranges between 2% and 4%. The most common MD-related complications are gastrointestinal bleeding, intestinal obstruction and acute phlogosis. Excision is mandatory in the case of symptomatic diverticula regardless of age, while surgical treatment for asymptomatic diverticula remains controversial. According to the majority of studies, the incidental finding of MD in children is an indication for surgical resection, while the management of adults is not yet unanimous. In this case report, we describe the prophylactic resection of an incidentally detected MD, which led to the removal of an occult mucosal carcinoid tumor. In literature, the association of MD and carcinoid tumor is reported as a rare finding. Even though the strategy for adult patients of an incidental finding of MD during surgery performed for other reasons divides the experts, we recommend prophylactic excision in order to avoid any further risk.

  13. Coexistence of abdominal cocoon, intestinal perforation and incarcerated Meckel's diverticulum in an inguinal hernia: A troublesome condition.

    PubMed

    Akbulut, Sami; Yagmur, Yusuf; Babur, Mehmet

    2014-03-27

    Sclerosing encapsulating peritonitis (SEP) is a rare disease entity, in which the small intestine becomes encased and mechanically obstructed by a dense, fibrotic membrane. The disorder is characterized as either primary (idiopathic) or secondary to other causes. The idiopathic cases of SEP, which lack any identifiable etiology according to clinical, radiological and histopathological findings, are also reported under the designation of abdominal cocoon syndrome. The most frequent presenting symptoms of all SEP cases are nausea, vomiting, abdominal distention and inability to defecate, all of which are associated with the underlying intestinal obstruction. Persistent untreated SEP may advance to intestinal perforation, representing a life-threatening condition. However, preoperative diagnosis remains a particular clinical challenge, and most diagnoses are confirmed only when the typical fibrous membrane encasing the small intestine is discovered by laparotomy. Here, we report the clinical presentation of an 87-year-old male with signs of intestinal obstruction and the ultimate diagnosis of concurrent abdominal cocoon, right incarcerated Meckel's diverticulum, and gastrointestinal perforation in laparotomy.

  14. Meckel on developmental pathology.

    PubMed

    Opitz, John M; Schultka, Rüdiger; Göbbel, Luminita

    2006-01-15

    cartilage named after him, and as having interpreted, correctly, the developmental nature of the "Meckel" diverticulum. It is virtually unknown that Meckel also first enuntiated the concept and distinction between primary and secondary malformations/anomalies, introduced the notion of heredity into the causal analysis of congenital anomalies, was the father of syndromology (the Meckel syndrome), had a clear understanding of pleiotropy and heterogeneity, and can unequivocally be regarded as the father of developmental pathology. In hindsight, and inspite of much professional success, Meckel emerges as a tragic figure in the history of biology, his life cut short at 52 without an ability to incorporate cell theory and the embryological insights of his younger contemporaries into his intellectual edifice which might have made it possible for him to finally and clearly see "analogy" (now homology), of which he was the greatest expert in his era, as incontrovertible evidence for descent. In that case, Darwin and Haeckel might have even had the courtesy of a tip-of-the-hat in Meckel's direction. Published 2005 Wiley-Liss, Inc.

  15. [Johann Friedrich Meckel the Younger (1781-1833), an extremely important naturalist and scholar].

    PubMed

    Schultka, Rüdiger; Göbbel, Luminita

    2002-11-01

    Johann Friedrich Meckel the Younger (1781-1833) belongs to the famous scientists of the 19th century. His research work is enormous. Important termini e.g. diverticulum Meckelii, cartilago Meckelii, Meckel syndrome and Meckel Serres law reflect the scientific results obtained by Meckel. He worked as a professor of anatomy, pathology and zoology at the University of Halle, a town in the Central Germany. Meckel founded the scientific teratology. In the literature he is also referred to the German Cuvier. On 8 April 1802, J. F. Meckel defended his doctoral thesis "De cordis conditionibus abnormibus". On occasion of the 200th anniversary of this event, we like to honor J. F. Meckel the famous German anatomist. Therefore, during the 97th session of the Anatomische Gesellschaft at Halle, a satellite symposium "From Meck el to genom" was held.

  16. [Johann Friedrich Meckel, Jr. as founder of scientific teratology].

    PubMed

    Schierhorn, H

    1984-01-01

    n the occasion of the 150th anniversary of his death, the scientific work of the famous German anatomist Johann Friedrich Meckel (1781 to 1833) in Halle is appreciated. The Younger Meckel is counted to the most outstanding figures in the history of anatomy and medicine in the first third of 19th century. According to his founded knowledges in the normal, comparative, and pathologic anatomy and embryology he was able to give a scientific argument of malformations first of all in the history of medicine and biology. The edition of Meckel's Handbook of Pathologic Anatomy (in German language; 1st vol. 1812) is the birth of scientific teratology. Through his contributions to teratology Meckel directly participated in the raising of general pathology and pathologic anatomy to scientific disciplines. Meckel's interceding for C. F. Wolff's theory of epigenesis, not at last by translation of Wolff's paper "De formatione intestinorum" (1768 to 1769) into the German language, accelerated the development of the general and special embryology during the 19th century. In the contemporary medicine the succeeding eponyms are reminding of the imposing German physician and anatomist: the Meckel's diverticulum of ileum (1809), the Meckel's cartilage of the mandibular arch (1820) and the so-called Meckel syndrome (1822).

  17. Horseshoe Kidney Incidentally Revealed on Meckel Scintigraphy.

    PubMed

    Bai, Xia; Codreanu, Ion; Yang, Hua; Servaes, Sabah; Zhuang, Hongming

    2015-09-01

    An 8-year-old male patient with history of bloody stools underwent a Meckel diverticulum scintigraphy to evaluate for ectopic gastric mucosa. The static images showed 2 abnormal foci of radiotracer accumulation in the mid-abdomen. Contrary to the renal activity, the foci appeared more prominent on the anterior view and localized anteriorly to the expected kidneys location on the left lateral view. Carefully reviewed dynamic acquisition revealed faint catenary-shaped activity in this region on earlier images, gradually evolving into 2 prominent foci on later images. A horseshoe kidney was suspected, the pathology being confirmed by abdominal ultrasonography.

  18. Meckel syndrome.

    PubMed Central

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic of the parenchymal changes of many organs is a proliferation of the stromal connective tissue and increase and dilatation of the associated epithelial ducts. Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS. Prenatal diagnosis of MKS by vaginal ultrasound scan is possible from 11-12 weeks of pregnancy, especially in families where there is a known risk. In those families where linkage to 17q22 is established, prenatal diagnosis by DNA analysis is possible. Images PMID:9643292

  19. Meckel-Gruber syndrome.

    PubMed

    Gazioğlu, N; Vural, M; Seçkin, M S; Tüysüz, B; Akpir, E; Kuday, C; Ilikkan, B; Erginel, A; Cenani, A

    1998-03-01

    Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys. This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome.

  20. [Meckel-Gruber syndrome].

    PubMed

    Flessa, A; Rempen, A; Schmausser, B; Marx, A

    1996-01-01

    The lethal Meckel-Gruber-Syndrome can be diagnosed prenatally during ultrasound screening between 16 and 20 weeks of pregnancy. Two case reports of Meckel-Gruber-Syndrome are given, which demonstrate the importance of a reliable ultrasound examination. The results supply the basis for an adequate counseling of the patient with the option of pregnancy termination in case of the lethal syndrome.

  1. [Congenital esophageal diverticulum].

    PubMed

    Belío-Castillo, C; Bracho-Blanchet, E; Blanco-Rodríguez, G

    1990-08-01

    The congenital or acquired variety of esophageal diverticulum is a rare childhood disease. Reported is a case-study which deals with a five year old patient who arrived at our hospital complaining of a constricture at the cricopharyngeal level. A month later he returned to the hospital with dysphasia and regurgitation; the X-rays and endoscopic diagnosis showed stenosis of the esophagus and the presence of an esophageal diverticulum. Esophageal dilatations were carried out until an acceptable esophageal diameter was reached. Later on, the surgical removal of the diverticulum was performed without any complications. The histopathological study showed the congenital nature of the diverticulum. The patient's recovery went well and is currently considered as cured.

  2. [Meckel-Gruber syndrome].

    PubMed

    Szafranko, K; Chodkiewicz, B; Gajdulewicz, M

    1996-01-01

    Two cases of the Meckel-Gruber syndrome were described at two subsequent pregnancies. Suspicion of this syndrome was established by ultrasonography and confirmed by histopathological findings. Both of the pregnancies were terminated by premature induced delivery.

  3. Genetics Home Reference: Meckel syndrome

    MedlinePlus

    ... area? Other Names for This Condition dysencephalia splanchnocystica Meckel-Gruber syndrome MKS Related Information How are genetic conditions and genes named? Additional Information & Resources ... Meckel syndrome Additional NIH Resources (1 link) National Institute ...

  4. Meckel-Gruber syndrome.

    PubMed

    Ramachandran, U; Malla, T; Joshi, K S

    2006-01-01

    Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects.

  5. Meckel's diverticulectomy - slideshow

    MedlinePlus

    ... anatomy URL of this page: //medlineplus.gov/ency/presentations/100092.htm Meckel's diverticulectomy - series—Normal anatomy To use the sharing features on this page, please enable JavaScript. Go to slide 1 out of 5 Go to slide 2 ...

  6. The legacy of Johann Friedrich Meckel the Elder (1724-1774): a 4-generation dynasty of anatomists.

    PubMed

    Janjua, Rashid M; Schultka, Rüdiger; Goebbel, Luminita; Pait, T Glenn; Shields, Christopher B

    2010-04-01

    Few families have had an impact on medicine to equal that of the Meckel family. Johann Friedrich Meckel the Elder is of special interest to the neurosciences, given that his dissertation on the fifth cranial nerve included the first description of the arachnoid space investing the trigeminal nerve into the middle fossa. He was interested in neuroanatomy, along with botany and pathology of the inguinal hernia and the lymphatic system. His mentors included the eminent Albrecht von Haller (1708-1777) and August Buddaeus (1695-1753), and he extended his own influence on the work of Giovanni Morgagni and Alexander Monro II. He spent the latter part of his life in Berlin as professor of anatomy, botany, and obstetrics. His son, Philipp Friedrich Theodor Meckel (1755-1803), was one of the founders of the current collection of anatomic specimens at the University of Halle and provided important groundwork for the practice of obstetrics. Meckel the Elder's grandson, Johann Friedrich Meckel the Younger (1781-1833), was a more prolific investigator and founder of the science of teratology. Many anatomic structures, such as Meckel's diverticulum, bear his name, and he vastly expanded the university's anatomic collection. August Albrecht Meckel (1789-1829), Meckel the Younger's brother, practiced legal medicine and investigated avian anatomy but died prematurely from tuberculosis. August's son, Johann Heinrich Meckel (1821-1856), took the instructor's position in pathologic anatomy at the University of Berlin that his great-grandfather had held at the Charité. After his untimely death from pulmonary disease, his position was filled by Rudolf Virchow. The history of this family is discussed in detail.

  7. Bony anomaly of Meckel's cave.

    PubMed

    Tubbs, R Shane; Salter, E George; Oakes, W Jerry

    2006-01-01

    This study describes the seemingly rare occurrence of bone formation within the proximal superior aspect of Meckel's cave thus forming a bony foramen for the proximal trigeminal nerve to traverse. The anatomy of Meckel's cave is reviewed and the clinical potential for nerve compression from this bony anomaly discussed.

  8. A review on gastric diverticulum

    PubMed Central

    2012-01-01

    The gastric fundal diverticulae are rare. They can present with variable symptoms. We are enclosing a literature review on gastric fundal diverticulum. Lessons have emerged which may help in the management of this rare condition in future. PMID:22257431

  9. Meningiomas of Meckel's cave.

    PubMed

    Delfini, R; Innocenzi, G; Ciappetta, P; Domenicucci, M; Cantore, G

    1992-12-01

    A series of 16 patients with meningiomas of Meckel's cave is reported. Trigeminal neuralgia, typical or atypical, was the initial symptom in 10 patients (62.5%). At admission, trigeminal signs and symptoms were present in 15 patients (93.7%); in 7 patients (43.7%), trigeminal dysfunction was combined with the impairment of other cranial nerves. On retrospective analysis, these patients fall into two clinical groups that differ also in prognosis. Group 1 comprises eight patients with trigeminal signs and symptoms only. These patients had small meningiomas strictly affecting Meckel's cave. Total removal of the tumor was achieved in seven of eight patients, without adjunctive postoperative neurological deficits. In this group, there were no tumor recurrences. Group 2 comprises the other eight patients in whom trigeminal dysfunction was combined with impairment of other cranial nerves. These patients had large tumors arising from Meckel's cave and secondarily invading the cavernous sinus (five patients) or extending into the posterior fossa (two patients) or largely growing into the middle fossa (one patient). Total removal was achieved in only one patient, and a worsening of the preoperative neurological status was observed in four patients; there were three cases of tumor progression. A subtemporal intradural approach (used in the past in every case) is still used for the small tumors of Group 1 with good results. Since 1985, for tumors involving the cavernous sinus, we have employed a frontotemporal craniotomy with extradural clinoidectomy and superior and lateral approach to the cavernous sinus. When the tumor extends toward the posterior fossa, we use a combined temporosuboccipital-transpetrosal approach.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. Meningiomas of Meckel's cave.

    PubMed

    Nijensohn, D E; Araujo, J C; MacCarty, C S

    1975-08-01

    A retrospective review of 12 cases of meningioma of Meckel's cave involving the Gasserian ganglion or the trigeminal posterior root (or both) seen at the Mayo Clinic during a 20-year period suggested three clearly defined clinical groups. One group (the largest) had typical trigeminal neuralgia and an excellent prognosis after the removal of the easily detachable mass that was impinging on the ganglion. A second group, with meningiomas en plaque embedded in the ganglion, had a history of atypical trigeminal face pain without neurological deficit, but the prognosis for pain relief was not as good as in the previous group. A third group had a history of face dysesthesias and pain, objective trigeminal sensory loss, and multiple cranial nerve deficit; these patients had meningiomas with histological signs of mitotic activity and a poor prognosis, with return of intractable pain and recurrence of the tumor.

  11. Acquired Pharyngeal Diverticulum after Anterior Cervical Fusion Operation Misdiagnosed as Typical Zenker Diverticulum

    PubMed Central

    Park, Jong Myung; Kim, Chang Wan; Kim, Do Hyung

    2016-01-01

    A pharyngeal diverticulum is a rare complication of an anterior cervical discectomy and fusion (ACDF). We present a case of a pharyngeal diverticulum after an ACDF, which was misdiagnosed as a typical Zenker diverticulum. A 54-year-old woman presented with dysphagia and a sense of irritation in the neck following C5 through C7 cervical fusion 3 years prior. The patient underwent open surgery to resect the diverticulum with concurrent cricopharyngeal myotomy. An ACDF-related diverticulum is difficult to distinguish from a typical Zenker diverticulum. PMID:27525244

  12. Transcervical diverticulectomy for Killian-Jamieson diverticulum.

    PubMed

    Siow, Sze Li; Mahendran, Hans Alexander; Hardin, Mark

    2015-03-13

    Surgery for Killian-Jamieson diverticulum of the esophagus is scarcely reported in the literature owing to the rarity of this entity. This is a case report of such a diverticulum and a description of the transcervical diverticulectomy that we performed on a 49-year-old lady. The patient was investigated for symptoms of gastroesophageal reflux disease and was diagnosed with a left-sided Killian-Jamieson diverticulum.

  13. ERCP in patients with periampullary diverticulum.

    PubMed

    Rajnakova, Andrea; Goh, Peter M; Ngoi, Sing Shang; Lim, Seng Gee

    2003-01-01

    Duodenal diverticula, discovered incidentally in patients during endoscopic retrograde cholangiopancreatography, are usually asymptomatic, but can be the source of significant morbidity. The aim of this study was to evaluate the indications for endoscopic retrograde cholangiopancreatography, the course of this procedure and complications after this procedure in patients with periampullary diverticulum. Clinical, laboratory, ultrasonographic, and endoscopic retrograde cholangiopancreatography data of 626 patients from a single endoscopy center were retrospectively analyzed. The periampullary diverticulum was identified in 72 patients (11.5%). The difficulty in cannulation of papilla of Vater was encountered in 57 patients (79.2%) with diverticulum compared to 54 patients (9.7%) without diverticulum (P < 0.001). Cannulation of common bile duct was successful in 592 patients (94.6%). Cannulation of common bile duct failed in 8 patients (11.1%) with diverticulum compared to 26 patients (4.7%) without diverticulum (P = 0.046). Patients without diverticulum (n = 168, 31.9%) had two-times more often dilated common bile duct > or = 6 mm without stone on ultrasound compared to patients with diverticulum (n = 12, 17.6%) (P = 0.017). Patients with diverticulum presented 1.8-times more often with retained stone in the common bile duct than patients without diverticulum (16.7% vs. 9.7%). 17.3% of patients developed post-endoscopic retrograde cholangiopancreatography complications, which did not significantly differ in both groups. However, the patients who presented with retained common bile duct stones had higher post-endoscopic retrograde cholangiopancreatography complications (P = 0.011). Cannulation of the common bile duct is more difficult in patients with periampullary diverticulum and requires more skills. Periampullary diverticulum is also associated with higher risk of retained stones in the common bile duct which may lead to higher post-endoscopic retrograde

  14. [Zenker diverticulum: a case report].

    PubMed

    Kocatürk, Sinan; Beriat, Güçlü Kaan; Doğan, Cem

    2009-01-01

    Zenker's diverticulum is a pulsion typed pharyngoeosophageal diverticle caused by the herniation of the pharyngeal mucosa, standing beside the posterior pharyngeal wall, through the Killian opening which is known as the weak area between the inferior constructor muscle's oblique fibres and transverse fibres of cricopharyngeal muscle. In patients with Zenker's diverticulum, symptoms such as disfagia, globus in the cervical area, weigh loss, regurgitation, cough, and aspiration. These patients are primarily admitted to the Gastroenterology and Othorhinolaryngology clinics with the complaint of disfagia and the diagnosis of this disease is mostly established late and the treatment is started late because the results of their physical examinations seem normal. Therefore, especially in the patients who have disfagia complaint, pharyngoeosophageal diverticle prediagnosis should be thought and that should be examined by passage graphies with barium and endoscopic methods, if needed. In this article, we presented the 67-year-old Zenker's diverticulum patient in whom we performed open diverticulectomy and posterior cricopharyngeal myotomy, and we specified the important points in choosing the patient and the type of surgery.

  15. [Meckel Gruber syndrome: about a rare case].

    PubMed

    Itchimouh, Sanaa; Khabtou, Karima; Mahdaoui, Sakher; Boufettal, Houssine; Samouh, Naima

    2016-01-01

    Meckel Gruber syndrome is a rare autosomal recessive polymalformation syndrome characterized by occipital encephalocele, polydactyly and cystic renal dysplasia. Ultrasound is, at present, the best tool for prenatal screening of this lethal polymalformation and diagnosys is confirmed by karyotyping. We here report a case of Meckel Gruber syndrome detected by ultrasound. Abortion was performed at 25 weeks of amenorrhoea.

  16. [Anatomic variants of Meckel's cave on MRI].

    PubMed

    Benoudiba, F; Hadj-Rabia, M; Iffenecker, C; Fuerxer, F; Bekkali, F; Francke, J P; Doyon, D

    1998-10-01

    Magnetic resonance imaging (MRI) gives an accurate analysis of Meckel's cave variability. Images were acquired in 50 patients with several sections for anatomical comparison. Using several sections, MRI is a suitable method for better analysis of the trigeminal cistern. The most frequent findings are symmetrical trigeminal cisterns. Expansion of Meckel's cave or its disappearance has pathological significance.

  17. Cavernous hemangioma of Meckel's cave. Case report.

    PubMed

    Fehlings, M G; Tucker, W S

    1988-04-01

    A case of a cavernous hemangioma located within Meckel's cave and involving the gasserian ganglion is described in a patient presenting with facial pain and a trigeminal nerve deficit. Although these lesions have been reported to occur in the middle fossa, this is believed to be the first case of such a vascular malformation arising solely from within Meckel's cave.

  18. Perforation of jejunal diverticulum with ectopic pancreas.

    PubMed

    Shiratori, Hiroshi; Nishikawa, Takeshi; Shintani, Yukako; Murono, Koji; Sasaki, Kazuhito; Yasuda, Koji; Otani, Kensuke; Tanaka, Toshiaki; Kiyomatsu, Tomomichi; Hata, Keisuke; Kawai, Kazushige; Nozawa, Hiroaki; Ishihara, Soichiro; Fukayama, Masashi; Watanabe, Toshiaki

    2017-04-01

    Perforation of jejunal diverticulum is a rare complication. Here, we report a case of jejunal diverticulum penetration with surrounding ectopic pancreas. An 83-year-old female patient was admitted to our department with acute onset of severe abdominal pain lasting for half a day. Abdominal computed tomography showed outpouching of the small intestine that contained air/fluid, with multiple surrounding air bubbles in the mesentery of the small intestine. She was diagnosed with penetration of the small intestine, and an emergency laparotomy was indicated. The penetrated jejunal diverticulum was identified ~20-cm distal to the ligament of Treitz. Partial resection of the jejunum was performed, and her postoperative course was uneventful. The pathological findings confirmed diverticulum penetration into the mesentery and severe inflammation at the site, with surrounding ectopic pancreas. Furthermore, the pancreatic ducts were opened through the penetrated diverticulum. This rare case shows that the ectopic pancreas might have caused penetration of jejunal diverticulum owing to the pancreatic duct opening through the diverticulum.

  19. [Results of surgical therapy of cervical diverticulum].

    PubMed

    Maurer, K P; Junginger, T; Kaltenborn, H

    1991-09-01

    Eighteen patients with a pharyngoesophageal diverticulum were operated on at the University Department of Surgery, Mainz, between September 1985 and July 1990. Results are based on follow-up studies of 15 patients. Three patients were operated upon less than six months ago. All patients underwent excision of the diverticulum and a cricopharyngeal myotomy. The mean age was 69 (49-84) years and the average follow-up interval was 30 (6-52) months. Twelve of the fifteen patients are free of symptoms concerning the esophagus since the operation. Two patients who died 17 resp. 22 months after the operation were also free of symptoms concerning the esophagus. In all 11 patients who had a barium contrast, swallowing was normal and no recurrence was found. The results show excision of the diverticulum combined with a cricopharyngeal myotomy to be an effective method with low risk for the long-term removal of pharyngoesophageal diverticulum.

  20. Bilateral Meckel's cave amyloidoma: a case report.

    PubMed

    Gültaşli, N; van den Hauwe, L; Bruneau, M; D'Haene, N; Delpierre, I; Balériaux, D

    2012-05-01

    Primary solitary amyloidoma of Meckel's cave is rare, and a bilateral location is even more rare. To the best of our knowledge, only 12 cases in the literature have described such a primary lesion, including one case of bilateral involvement of Meckel's cave. We report here on the case of a 57-year-old woman presenting with pseudotumor masses involving both Meckel's caves and responsible for trigeminal neuropathy. The final diagnosis of amyloidoma was made on the basis of histological examination of surgical biopsy specimens.

  1. Adult peripheral neuroepithelioma in Meckel's cave.

    PubMed

    Midroni, G; Dhanani, A N; Gray, T; Tucker, W S; Bilbao, J M

    1991-02-01

    A case of peripheral neuroepithelioma arising from the trigeminal nerve in Meckel's cave is presented. The discussion emphasizes the pathological criteria for the diagnosis of a peripheral neuroepithelioma and the current controversy about the classification of this and related tumors.

  2. Male urethral diverticulum uncommon entity: Our experience

    PubMed Central

    Thakur, Naveen; Sabale, Vilas Pandurang; Mane, Deepak; Mullay, Abhirudra

    2016-01-01

    Out pouching of the urethral wall could be congenital or acquired. Male urethral diverticulum (UD) is a rare entity. We present 2 cases of acquired and 1 case of congenital male UD. Case 1A: 40 year male presented with SPC and dribbling urine. Clinically he had hard perineal swelling. RGU revealed large diverticulum in proximal bulbar, irregular narrow distal urethra and stricture just beyond diverticulum. Managed with perineal exploration, stone removal, diverticulum repair and urethroplasty using excess diverticular wall. Case 2A: 30 year male with obstructive lower urinary tract symptoms (LUTS). Retrograde urethrogram (RGU) revealed bulbar urethral diverticulum akin to anterior urethral valve, managed endoscopically. 1 year follow up urine stream satisfactory. Case 3A: 27 year male previously operated large proximal bulbar urethral stone with incontinence. RGU large proximal bulbar UD with wide open sphincter. Treated with excision of excess diverticular wall and penile clamp with pelvic exercises for incontinence. Congenital UD develops due to imperfect closure of urethral fold, Acquired UDs occurs secondary to stricture, infection, trauma, long standing impacted urethral stones or scrotal / skin flap urethroplasties. RGU and MCU are the best diagnostic technique to confirm and characterize the UD. Urethral diverticulectomy with urethral reconstruction is the recommended treatment for UD. UD is a rare entity. Especially in males, congenital are even more rare. Management should be individualized. Surgery can involve innovation and/or surgical modifications. We used excess diverticular flap for stricture urethroplasty in one case. PMID:28057997

  3. The jugular bulb diverticulum. A radioanatomic investigation.

    PubMed

    Wadin, K; Wilbrand, H

    1986-01-01

    Two hundred and forty-five temporal bone specimens were examined radiographically. Subsequently the topographic relationship between the jugular fossa and surrounding structures was evaluated in plastic casts of the specimens. Fifty-eight casts showed a high jugular fossa and in 17 a jugular bulb diverticulum was found. A diverticulum is regarded as an anomaly of the high jugular bulb and presumably has a potential for expansion. Most frequently a diverticulum was directed medially into the space between the internal acoustic meatus, the vestibular aqueduct and the posterior cranial fossa. Seven diverticula reached the level of the internal acoustic meatus. Encroachment upon the vestibular aqueduct was seen in 4 casts and both the internal acoustic meatus and the cochlear aqueduct were very close to the diverticulum. A few diverticula were directed postero-laterally close to the facial canal and the stapedius muscle. The investigation was supplemented with a selected clinical material of radiographs of temporal bones with high fossae. The results corresponded to those of the experimental investigation. The jugular bulb diverticulum is a relatively common feature and should be regarded as an anomaly with a potential to give rise to clinical symptoms consequent to its intrusion upon surrounding structures.

  4. Obliterated, fibrous omphalo-mesenteric duct in an adult without Meckel's diverticulum or vitelline cyst.

    PubMed

    Mahato, N K

    2010-01-01

    Vitello-intestinal [omphalo-mesenteric duct (OMD)] connects the developing mid-gut to the primitive yolk sac, provides nutrition to the embryo and remains patent and connected to the intestines until the fifth to ninth week of gestational period. Varied remnants of the vitello-intestinal duct have been reported. The present case-report describes a completely obliterated fibrous remnant of the duct. The remnant presented as a thick cord extending from the umbilicus towards the terminal part of the ileum and beyond. The terminal part of the cord showed a few ramifications that ended in the mesentery. This embryological entity was not found to be associated with any other anomaly usually related to non-regression of the vitello-intestinal duct. Though very rare, the occurrence of such innocuous band of fibrous cord across the abdominal cavity may cause entanglement of intestinal loops around it. Possibility of such a situation should be suspected in an acute abdominal condition. The structure reported in this study might not be detected by investigations used to uncover common anomalies of patent vitello-intestinal ducts.

  5. Female urethral diverticulum presenting with acute urinary retention: Reporting the largest diverticulum with review of literature.

    PubMed

    Pradhan, Manas Ranjan; Ranjan, Priyadarshi; Kapoor, Rakesh

    2012-04-01

    Female urethral diverticulum is a rare entity with diverse spectrum of clinical manifestations. It is a very rare cause of bladder outlet obstruction and should be considered as a differential diagnosis in females presenting with acute urinary retention associated with a vaginal mass. Strong clinical suspicion combined with thorough physical examination and focused radiological investigations are vital for its diagnosis. Herein we report a case of giant urethral diverticulum presenting with acute urinary retention in a young female. It was managed by excision and urethral closure, and is the largest urethral diverticulum reported till date in the literature.

  6. Synchronous Perforation of the Ileum and Meckel’s Diverticulum Due to Tuberculosis

    PubMed Central

    Zachariah, Sanoop K.

    2010-01-01

    Perforation of the Meckel’s diverticulum due to tuberculosis is a rare phenomenon. A 45 years old male who presented with perforation peritonitis was found to have a synchronous dual perforation involving the ileum and the Meckel’s diverticulum, due to intestinal tuberculosis. In addition to this, the Meckel’s diverticulum was found to have a daughter diverticulum (diverticulum within diverticulum), which was probably pulsion or traction diverticulum as it did not have all layers of the intestinal wall. Such daughter diverticulum associated with a Meckel’s diverticulum is very unusual. All these factors make this a unique case which is hence reported here. PMID:27956994

  7. Giant congenital diverticulum of the right atrium.

    PubMed

    Tomar, Munesh; Radhakrishnan, Sitaraman; Iyer, Krishna Subramony; Shrivastava, Savitri

    2008-01-01

    Congenital diverticulum of heart is a rare entity, which may arise from the atria, atrial appendages, coronary sinus or the ventricles. A 3-year-old child presented with history of early fatigability for 6 months and recent upper respiratory tract infection. Chest X-ray and echocardiogram revealed marked right atrial enlargement. At surgery, a right atrial diverticulum was excised under cardiopulmonary bypass. Pathology revealed thickened endocardium with edema and myocardial fiber hypertrophy. Our experience with this rare congenital disease is presented along with a review of the literature.

  8. Zapping Zenker's diverticulum: gastroscopic treatment.

    PubMed

    Mulder, C J

    1999-06-01

    Zenker's diverticulum (ZD) is a common cause of dysphagia in the elderly. Many symptomatic elderly are poor candidates for surgery and/or ear, nose and throat treatment. The author's first experiences with gastroscopic treatment by cutting the Zenker bridge to allow an overflow have recently been published. Only patients with contraindications for general anesthesia were accepted to the pilot group. However, the author now treats all ZD patients in this manner. One hundred and twenty-five patients (male to female ratio 1. 6) were referred for treatment from 1993 to 1997. After introduction of the gastroscope into the esophagus, a nasogastric tube was positioned to treat a ZD bridge with a height of less than 1 cm. The ZD bridge was divided by argon plasma coagulation, if necessary, in combination with monopolar forceps, Savary dilator and/or precut needle. All patients received antibiotics, topical anesthesia to the throat, if necessary, and intravenous midazolam, if possible. Radiography was performed after treatment. Normalization of the diet was allowed when the x-ray showed no signs of leakage. All patients referred for treatment were treated successfully. The median age was 77 years (range 41 to 100 years). Symptomatic improvement was seen in all patients after treatment. Complications included subcutaneous emphysema (n=17), mediastinal emphysema (n=5) and bleeding (n=2). One patient (95 years of age) died in her nursing home 27 days after treatment due to massive pulmonary embolism. The thirty-day mortality rate was otherwise zero. Three patients had been previously treated by surgeons and 12 by ear, nose and throat physicians, without sufficient improvement; all were adequately treated by the author. The mean number of treatment sessions was 1.8. This approach seems safe and effective. Treatment of every patient was possible and was carried out, even in patients in very poor condition, without general anesthesia.

  9. High resolution CT of Meckel's cave.

    PubMed

    Chui, M; Tucker, W; Hudson, A; Bayer, N

    1985-01-01

    High resolution CT of the parasellar region was carried out in 50 patients studied for suspected pituitary microadenoma, but who showed normal pituitary gland or microadenoma on CT. This control group of patients all showed an ellipsoid low-density area in the posterior parasellar region. Knowledge of the gross anatomy and correlation with metrizamide cisternography suggest that the low density region represents Meckel's cave, rather than just the trigeminal ganglion alone. Though there is considerable variation in the size of Meckel's cave in different patients as well as the two sides of the same patient, the rather constant ellipsoid configuration of the cave in normal subjects will aid in diagnosing small pathological lesions, thereby obviating more invasive cisternography via the transovale or lumbar route. Patients with "idiopathic" tic douloureux do not show a Meckel's cave significantly different from the control group.

  10. Female urethral diverticulum: cases report and literature

    PubMed Central

    2014-01-01

    Introduction A female urethral diverticulum is an uncommon pathologic entity. It can manifest with a variety of symptoms involving the lower urinary tract. Our objective is to describe the various aspects of the diverticulum of the female urethra such as etiology, diagnosis and treatment. Cases presentation We report five female patients, without prior medical history. They had different symptoms: dysuria in four cases, recurrent urinary tract infection in three cases, stress incontinence in two cases and hematuria in two cases. All patients had dyspareunia. The physical exams found renitent mass located in the endovaginal side of urethra which drained pus in two cases. Urethrocystography found a diverticulum of urethra in all cases. Our five patients underwent diverticulotomy by endovaginal approach. The course after surgical treatment was favorable. The urinary catheter was withdrawn after ten days. Some recurrent symptoms were reported. Conclusion Evaluation of recurrent urinary complaints in young women can lead to the finding of a diverticulum of urethra. Urethrocystography can reveal this entity. Diverticulectomy by endovaginal approach is the best choice for treatment. PMID:24528809

  11. Zenker's Diverticulum: Diagnostic Approach and Surgical Management

    PubMed Central

    Nuño-Guzmán, Carlos M.; García-Carrasco, Daniel; Haro, Miguel; Arróniz-Jáuregui, José; Corona, Jorge L.; Salcido, Macario

    2014-01-01

    Zenker's diverticulum (ZD), also known as cricopharyngeal, pharyngoesophageal or hypopharyngeal diverticulum, is a rare condition characterized by an acquired outpouching of the mucosal and submucosal layers originating from the pharyngoesophageal junction. This false and pulsion diverticulum occurs dorsally at the pharyngoesophageal wall between the inferior pharyngeal constrictor and the cricopharyngeus muscle. The pathophysiology of ZD involves altered compliance of the cricopharyngeus muscle and raised intrabolus pressure. Decreased compliance of the upper esophageal sphincter and failure to open completely for effective bolus clearance both lead to an increase in the hypopharyngeal pressure gradient. Different open surgical techniques and transoral endoscopic approaches have been described for the management of ZD, although there is no consensus about the best option. We report the case of a 61-year-old patient with a 7-year history of dysphagia and odynophagia for solid food, which after 2 months progressed to dysphagia for liquids and after 4 months to regurgitation 2–6 h after meals. The patient experienced a 12-kg weight loss. Diagnosis was established by esophagogram, which showed a diverticulum through the posterior pharyngeal wall, suggestive of a ZD. Esophagogastroduodenoscopy showed a pouch with erythematous mucosa. Under general anesthesia, diverticulectomy and myotomy were performed. After an uneventful recovery and adequate oral intake, the patient remains free of symptoms at 4 months of follow-up. PMID:25759630

  12. Meckel's cave meningiomas with subarachnoid hemorrhage.

    PubMed

    Rosenberg, G A; Herz, D A; Leeds, N; Strully, K

    1975-06-01

    Two patients with Meckel's Cave meningiomas were initially hospitalized as a result of subarachnoid hemorrhage. Four-vessel angiography was necessary to exclude other causes of bleeding while demonstrating these lesions. Apoplectic presentation in both cases led to early diagnosis and successful surgical therapy. A review of the literature reveals subarachnoid hemorrhage to be a rarity in association with meningiomas. The two patients currently reported are believed to be the only examples on record of hemorrhagic meningiomas arising from the region of Meckel's Cave.

  13. Meckel Gruber Syndrome--a case report.

    PubMed

    Desai, S R; Wader, J V

    2004-07-01

    Meckel Gruber Syndrome is a rare syndrome inherited as Mendelian autosomal recessive condition. The affected infant usually has a large occipital encephalocoele associated with renal cysts and sometimes polydactyly. The prognosis is poor. The affected child is still born or dies early in infancy. If diagnosis is done by prenatal ultrasound examination termination of pregnancy can be done.

  14. Meckel Gruber syndrome, A case report

    PubMed Central

    Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

    2015-01-01

    ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies. PMID:26037304

  15. Meckel Gruber syndrome, A case report.

    PubMed

    Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

    2015-01-01

    Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies.

  16. Genetics of the Meckel Syndrome (Dysencephalia Splanchnocystica)

    ERIC Educational Resources Information Center

    Hsia, Y. E.; And Others

    1971-01-01

    Reported are seven cases in two families of the Meckel syndrome, whose key features are occipital encephalocele, cleft lip and palate, polydactyly, and polycystic kidneys. Evidence supports the hypothesis that the syndrome is a recessively inherited condition, determined by homozygous expression of a single autosomal gene. (Author/KW)

  17. Genetics of the Meckel Syndrome (Dysencephalia Splanchnocystica)

    ERIC Educational Resources Information Center

    Hsia, Y. E.; And Others

    1971-01-01

    Reported are seven cases in two families of the Meckel syndrome, whose key features are occipital encephalocele, cleft lip and palate, polydactyly, and polycystic kidneys. Evidence supports the hypothesis that the syndrome is a recessively inherited condition, determined by homozygous expression of a single autosomal gene. (Author/KW)

  18. Meckel's cave tuberculoma with unusual infratemporal extension.

    PubMed

    Kesavadas, Chandrasekharan; Somasundaram, S; Rao, Ravi M; Radhakrishnan, V V

    2007-07-01

    The authors describe a rare case of intracranial tuberculoma of the Meckel's cave and cavernous sinus with extension into the infratemporal fossa causing widening of the foramen ovale and adjacent bone destruction. The rarity of the lesion and the unusual extension of the lesion are presented with a brief review of literature.

  19. Xanthoma in Meckel's cave. A case report.

    PubMed

    Kimura, H; Oka, K; Nakayama, Y; Tomonaga, M

    1991-04-01

    A case of xanthoma located within Meckel's cave and the semilunar ganglion is described in a patient with a trigeminal nerve deficit. This is the first case of xanthoma in such a location. The distinctive morphological appearance is illustrated and the possible histogenesis is discussed.

  20. A rare entity in adults: Bilateral Hutch diverticulum with calculi

    PubMed Central

    Telli, Onur; Guclu, Adil Gucal; Haciyev, Perviz; Burgu, Berk; Gogus, Cagatay

    2015-01-01

    Congenital bladder diverticulum (CBD) is a very uncommon entity in adults. CBD could be unilateral or bilateral and is caused by a congenital weakness in the bladder musculature. CBD is differentiated from the paraureteral or Hutch type of diverticula. A 42-year-old male presented with bilateral Hutch diverticulum and multiple diverticulum calculus on intravenous pyelography. Cystoscopy revealed bladder diverticulum just medial to the left ureteral orifice with multiple calculi; the patient successfully underwent endoscopic laser cystolithotripsy with resolution of his urinary tract infection. To the best of our knowledge, this is the first case report presenting stone formation of CBD in an adult. PMID:26029313

  1. [Pathophysiology, diagnosis and treatment of Zenker's diverticulum].

    PubMed

    Hussain, T; Maurer, J T; Lang, S; Stuck, B A

    2017-02-01

    Zenker's diverticulum occurs at the dorsal pharyngoesophageal junction through Killian's dehiscence and is caused by increased intrabolus pressure. Symptomatic disease most frequently affects male elderly patients. Primary symptom is oropharyngeal dysphagia, as well as regurgitation of undigested food, halitosis, and chronic aspiration. A barium swallow study is performed to confirm diagnosis. Treatment options for symptomatic patients include open surgery, as well as transoral rigid or flexible endoscopic procedures. Transoral procedures have become the main treatment approach over the past year thanks to reduced intraoperative complication rates compared to open surgery. The septum dividing the diverticulum from the esophagus is most commonly divided by a stapler device, papillotome, or laser. For high-risk patients who are poor candidates for general anesthesia, the procedure can be performed via flexible endoscopy in awake patients, albeit at an increased risk of recurrence.

  2. Giant esophageal epiphrenic diverticulum: presentation and treatment.

    PubMed

    Santos, Marcelo Protásio Dos; Akerman, Denise; Santos, Caio Pasquali Dias Dos; Santos, Paulo Vicente Dos; Radtke, Marcos Claudio; Beraldo, Fernando Bray; Gonçalves, José Eduardo

    2017-09-21

    Epiphrenic diverticulum is a rare disease associated with esophageal motor disorders that is usually asymptomatic and has a well-established surgical indication. We report a case of giant epiphrenic diverticulum in a 59-year-old symptomatic woman who was diagnosed after underwent complementary exams. Because of her symptoms, the surgical treatment was chosen, and esophageal diverticulectomy was performed along with laparoscopic cardiomyotomy and anterior partial fundoplication. RESUMO O divertículo epifrênico é uma patologia rara associada a distúrbios motores esofágicos e, frequentemente, assintomática, tendo indicações cirúrgicas bem estabelecidas. Relatamos um caso de divertículo epifrênico gigante em paciente de 59 anos, sexo feminino, sintomática, diagnosticada por exames complementares. Devido à sintomatologia, optou-se por tratamento cirúrgico, sendo realizada a diverticulectomia esofágica com cardiomiotomia e fundoplicatura parcial anterior laparoscópica.

  3. Severe halitosis as presentation of epiphrenic diverticulum.

    PubMed

    Montes de Oca Megías, Elizabeth; Noa Pedroso, Guillermo; Martínez Alfonso, Miguel Ángel; Pérez Triana, Frank; Seijas Cabrera, Osvaldo; Garcia Jordá, Elsy

    2016-11-01

    Halitosis is a common condition, whose main etiology does not respond to diseases of the gastrointestinal system. Epiphrenic diverticula are a rare cause of this manifestation, thus they are not frequent and they are usually asymptomatic. However, they may produce symptoms with inability for patient. A patient with severe halitosis is presented. In his study, an epiphrenic diverticulum is diagnosed and the laparoscopic abdominal diverticulectomy is performed with a complete resolution of symptomatology.

  4. Principles of surgical treatment of Zenker diverticulum

    PubMed Central

    Constantin, A; Mates, IN; Predescu, D; Hoara, P; Achim, FI; Constantinoiu, S

    2012-01-01

    Background: Pharyngo-esophageal diverticula are most frequently described in elderly patients, having symptoms such as dysphagia, regurgitation, chronic cough, aspiration and weight loss. The etiology remains controversial, although most of the theories are linked to structural or functional abnormalities of the crico-pharyngeal muscle. With the therapeutic attitude varying from conservative to surgical (with associated morbidity and mortality), the importance of knowing the etiopathology and clinical implications of the disease for establishing the management of the case is mandatory. The aim of the study is the reevaluation of the methods and therapeutic principles in pharyngo-esophageal diverticular disease, starting from the etio pathogeny. Materials and Methods: Our study group is made up of 11 patients with surgical indication for Zenker diverticulum, operated between 2001 and 2011. Results: During that period, more patients were diagnosed with this pathology, but the surgical indication was carefully established, in conformity with the actual practice guides, which involve the evaluation of the clinical manifestations determined by the diverticulum, as well as the identification and interception of the pathological mechanisms by the therapeutic gesture. Conclusion: Although it has a “benign” pathology, the esophageal diverticulum requires complex surgical procedure that implies significant morbidity. Abbreviations UES= upper esophageal sphincter; NPO= nothing by mouth PMID:22574094

  5. Congenital enlargement of the suburethral diverticulum in a Holstein calf

    PubMed Central

    Vogel, Susan R.; Doré, Elizabeth; Breteau, Gaëlle; Desrochers, André; Babkine, Marie; Nichols, Sylvain

    2011-01-01

    A 3-month-old, female Holstein calf was examined because of marked perineal swelling and tenesmus of 4-days duration. A congenitally enlarged urethral diverticulum was diagnosed using fluoroscopic and ultrasonographic imaging techniques. The urethral diverticulum was surgically resected and the perineal area was reconstructed. PMID:21532825

  6. Killian-Jamieson diverticulum: real-time sonographic findings.

    PubMed

    Bonacchi, Giovanni; Seghieri, Marta; Becciolini, Marco

    2016-12-01

    Killian-Jamieson diverticulum (KJD) is a pharyngoesophageal diverticulum that can be observed during a neck ultrasound examination. Because of its position, it is frequently misinterpreted as a thyroid nodule. We present a case of an incidental finding of KJD, where changes in shape during dynamic scanning led to the correct diagnosis, preventing from invasive procedures such as fine needle aspiration.

  7. Scrotal pop off in a congenital anterior urethral diverticulum.

    PubMed

    Abrol, N; Deshpande, A V; Berry, C S; Devasia, A

    2014-08-01

    Congenital anterior urethral diverticulum is a rare entity. This teaching video shows the scrotal pop-off mechanism for an anterior urethral diverticulum and the unique voiding pattern of a boy who empties his bladder by compression of his scrotum. The findings during urethroscopy and open reconstruction are also demonstrated. A four-year-old boy presented to the clinic with a poor urinary stream and scrotal swelling during voiding. Physical examination during voiding revealed a dumbbell-shaped anterior urethral diverticulum with scrotal pop off and preserved renal function. Open excision of the scrotal part of diverticulum was performed. Urethroplasty was conducted using a de-epithelialised diverticular wall flap from the penobulbar urethra. On follow up the boy voided with a good flow and resolution of symptoms. Scrotal pop off with completion of voiding by manual compression of the diverticulum may preserve bladder and renal function. The preferred treatment of anterior urethral diverticulum is open excision of the diverticulum and reconstruction. The wall of the diverticulum may be used to reinforce the repair ventrally, where the corpus spongiosum is deficient. Copyright © 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  8. Meckel-Gruber syndrome (dysencephalia splanchnocystica).

    PubMed

    Shetty, B Prasanna; Alva, Nandakishore; Patil, Shankargouda; Shetty, Rohit

    2012-09-01

    Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians.

  9. Simple closure of a perforated duodenal diverticulum: "a case report".

    PubMed

    Yokomuro, Shigeki; Uchida, Eiji; Arima, Yasuo; Mizuguchi, Yoshiaki; Shimizu, Tetsuya; Kawahigashi, Yutaka; Kawamoto, Masao; Takahashi, Ken; Arai, Masao; Arima, Yasuo; Tajiri, Takashi

    2004-10-01

    Spontaneous perforation of a duodenal diverticulum is a rare but serious complication with significant mortality rates. Just over 100 cases have been reported in the world literature. One case of perforated duodenal diverticulum treated by simple closure is reported. An elderly female was admitted to our hospital with an acute abdomen. Computed tomography of the abdomen showed retroperitoneal air around the duodenum and right kidney. Laparotomy with a Kocher maneuver disclosed a perforated diverticulum in the second portion of the duodenum. Although diverticulectomy is the most common treatment, simple closure of the perforated duodenal diverticulum with drainage was performed to avoid injury to the distal common bile duct and ampulla of Vater, which were close to the diverticulum. The patient has fully recovered and has been asymptomatic with no signs of recurrence for 25 months.

  10. Primary melanoma of Meckel's cave: case report.

    PubMed

    Falavigna, Asdrubal; Borba, Luis A B; Ferraz, Fernando Antonio Patriani; Almeida, Giovana Camargo de; Krindges Júnior, José Valentim

    2004-06-01

    We present a case of trigeminal neuralgia with cranial normal magnetic resonance image (MRI) and computed tomography. The pain was not relieved by carbamazepine and microvascular decompression surgery was done. After two months the pain was similar to the condition before surgery. At this time, MRI showed an expansive lesion in Meckel's cave that was treated with radical resection by extra-dural approach. The pathologic examination revealed a primary melanoma. The follow-up after six months did not show abnormalities.

  11. High incidence of Meckel's syndrome in Gujarati Indians.

    PubMed

    Young, I D; Rickett, A B; Clarke, M

    1985-08-01

    Five probable cases of Meckel's syndrome have been ascertained retrospectively through the Leicestershire Perinatal Mortality Survey for the years 1976 to 1982. All of these babies were born to Hindu parents originating from the Gujarat State in India, suggesting that Meckel's syndrome is particularly common among this ethnic group, with a gene frequency of approximately 0.028.

  12. Aspergillosis of the Petrous Apex and Meckel's Cave.

    PubMed

    Ederies, Ash; Chen, Joseph; Aviv, Richard I; Pirouzmand, Farhad; Bilbao, Juan M; Thompson, Andrew L; Symons, Sean P

    2010-05-01

    Cranial cerebral aspergillosis is a rare entity in immunocompetent patients. Invasive disease involving the petrous apex and Meckel's cave has rarely been described. We present a case of localized invasive petrous apical and Meckel's cave disease in an immunocompetent patient who presented with hemicranial neuralgic pain.

  13. Intratentorial lipomas with Meckel's cave and cerebellopontine angle extension.

    PubMed

    Ruocco, M J; Robles, H A; Rao, K C; Armonda, R A; Ondra, S L

    1995-08-01

    An unusual case of bilateral intratentorial lipomas with extension into Meckel's caves and the cerebellopontine angle is described. Surgical and histopathologic correlation demonstrate that the lipoma encased the trigeminal nerve in Meckel's caves. The origin of the lipoma from the anteromedial margins of the tentorium is discussed and correlated with a recently proposed theory for the development of intracranial lipomas.

  14. Meckel's cave epidermoid with trigeminal neuralgia: CT findings.

    PubMed

    Kapila, A; Steinbaum, S; Chakeres, D W

    1984-12-01

    An epidermoid tumor of Meckel's cave was found in a middle-aged woman with trigeminal neuralgia. On CT the lesion had negative attenuation numbers of fat and extended from an expanded Meckel's cave through the porous trigeminus into the ambient and cerebellopontine angle cisterns. Surgical excision provided relief of the patient's trigeminal neuralgia.

  15. The Meckel's cartilage in human embryonic and early fetal periods.

    PubMed

    Wyganowska-Świątkowska, Marzena; Przystańska, Agnieszka

    2011-06-01

    The Meckel's cartilage itself and the mandible are derived from the first branchial arch, and their development depends upon the contribution of the cranial neural crest cells. The prenatal development of the Meckel's cartilage, along with its relationship to the developing mandible and the related structures, were studied histologically in human embryos and fetuses. The material was obtained from a collection of the Department of Anatomy, and laboratory procedures were used to prepare sections, which were stained according to standard light-microscopy methods. The formation of the Meckel's cartilage and its related structures was observed and documented. Some critical moments in the development of the Meckel's cartilage are suggested. The sequential development of the Meckel's cartilage started as early as stage 13 (32 days) with the appearance of condensation of mesenchymal cells within the mandibular prominence. During stage 17 (41 days), the primary ossification center of the mandible appeared on the inferior margin of the Meckel's cartilage. The muscular attachments to the Meckel's cartilage in embryos were observed at stage 18 (44 days). Their subsequent movement into the developing mandible during the 10th week seemed to diminish the role of the Meckel's cartilage as the supportive core; simultaneously, the process of regression within the cartilage was induced. During the embryonic period, the bilateral Meckel's cartilages were in closest contact at the posterior surface of their superior margins, preceding formation of the symphyseal cartilage at this site. The event sequence in the development of the Meckel's cartilage is finally discussed.

  16. The complicated duodenal diverticulum: retrospective analysis of 11 cases.

    PubMed

    de Perrot, Thomas; Poletti, Pierre-Alexandre; Becker, Christoph D; Platon, Alexandra

    2012-01-01

    A series of rare complicated duodenal diverticula were reported with emphasis on causes for misdiagnosis. Patients with a discharge diagnosis of complicated duodenal diverticulum were retrospectively obtained. Computed tomographic (CT) reports and findings were reviewed. Complications consisted of diverticulitis (n=2), perforation (n=7), or obstructive cholangitis (n=2). CT imaging demonstrated a duodenal diverticular structure with findings due to the kind of complications. At the time of CT interpretation, a complicated duodenal diverticulum was suspected in 5 out of 11 patients. Awareness of the duodenal diverticulum and complications may improve the diagnostic value of CT in this setting. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. Adenocarcinoma of Meckel's cave: case report.

    PubMed

    Tacconi, L; Arulampalam, T; Johnston, F; Symon, L

    1995-12-01

    A rare localization of adenocarcinoma in Meckel's cave is reported in a 58-year-old woman, who had a 5-month history of pain and altered sensation in the second division of the left trigeminal nerve. Removal of the lesion was achieved by a subtemporal route. Histology showed this to be an adenocarcinoma. The patient underwent investigations for a primary tumor; the investigations were all negative, and the patient was subsequently treated with a course of radiotherapy. At 4-month follow-up, there was no evidence of recurrence, and she remains symptomatically well. The various mechanisms of secondary localization are discussed.

  18. Meckel-Gruber syndrome: a rare clinical entity.

    PubMed

    Jha, Tulika; Bardhan, Jayati; Das, Bibekananda; Patra, Kajal Kumar; Dhali, Badal; Seth, Shelley

    2010-09-01

    Meckel-Gruber syndrome is an inherited genetic disorder of unknown aetiology. It is an autosomal recessive condition and its incidence is as rare as 1:13,250 to 1:140,000. Some population show an increased incidence of this condition eg, Finnish and Gujarati Indians. Since the time it was first reported by Meckel in 1822 and subsequently by Gruber in 1934, only 200 cases have been reported. Here the case was diagnosed antenatally by an ultrasound and termination of the pregnancy at an early stage was done as per the wishes of the parents. This interesting and rare case of Meckel-Gruber syndrome is reported here.

  19. Meckel syndrome with Caroli disease and choledochal cysts.

    PubMed

    Venkatachala, Sandhya; Sivaraman, Ammu

    2011-01-01

    Meckel syndrome is a lethal autosomal recessive disorder characterized by the triad of cystic renal dysplasia, occipital encephalocele, or other anomaly of the central nervous system and post-axial polydactyly. Malformation of the ductal plate is an integral component of Meckel syndrome. Ductal plate malformations include congenital hepatic fibrosis, biliary hamartoma, autosomal dominant polycystic liver disease, Caroli disease, and choledochal cyst. The occurrence of cystic hepatic disease, Caroli disease, and choledochal cyst have not been highlighted. This is a report of a 26-week fetus with features of Meckel syndrome, Caroli disease, and choledochal cyst.

  20. Meckel syndrome: what are the minimum diagnostic criteria?

    PubMed Central

    Wright, C; Healicon, R; English, C; Burn, J

    1994-01-01

    Two sibs are described, the first of whom presented the classic Meckel syndrome triad of encephalocele, postaxial polydactyly, and characteristic renal cystic changes. The second sib had none of these abnormalities, but did show urethral atresia and preaxial polydactyly, two features previously described in some patients with Meckel syndrome. The two cases illustrate both the wide phenotypic spectrum of Meckel syndrome and the difficulty of attempting to define minimum diagnostic criteria for the disorder. The clinical implications arising from this problem are discussed. Images PMID:8071976

  1. Gastric Diverticulum of the Prepyloric Region: A Rare Presentation of Gastric Diverticulum

    PubMed Central

    Tsitsias, T.; Finch, J.G.

    2012-01-01

    Gastric diverticula are the least common diverticula of the gastrointestinal tract. The two main categories identified are congenital and acquired ones. Diverticula of the antrum, prepyloric or pyloric, are extremely rare and usually asymptomatic. We report a diverticulum of the prepyloric region in a patient with a background of peptic ulcer disease and antiplatelet treatment who became symptomatic and was treated successfully with proton pump inhibitors. PMID:22679402

  2. An unusual case of cardiac tamponade: ruptured subaortic diverticulum.

    PubMed

    Salemi, Arash; Lee, Ben; Ivascu, Natalia; Webber, Geoffrey; Paul, Subroto

    2010-05-01

    Cardiac diverticula are rare congenital anomalies found as outpouchings from various chambers of the heart. We present a case of a diverticulum arising from the membranous septum with free rupture into the pericardial space and tamponade.

  3. Pathogenesis and methods of treatment of Zenker's diverticulum.

    PubMed

    van Overbeek, Jos J M

    2003-07-01

    In the literature, various theories concerning the cause of Zenker's diverticulum have been propounded. I believe that an anatomic predisposition plays a prominent role in the pathogenesis. This conclusion will be discussed in light of a study of the literature and characteristics of a series of 646 patients with Zenker's diverticulum. The current methods of treatment by an external surgical approach, as well as the (micro)endoscopic procedures, are described.

  4. Esophageal epiphrenic diverticulum associated with diffuse esophageal spasm.

    PubMed

    Matsumoto, Hideo; Kubota, Hisako; Higashida, Masaharu; Manabe, Noriaki; Haruma, Ken; Hirai, Toshihiro

    2015-01-01

    Esophageal diverticulum, a relatively rare condition, has been considered to be associated with motor abnormalities such as conditions that cause a lack of coordination between the distal esophagus and lower esophageal sphincter. We herein report a case of esophageal epiphrenic diverticulum associated with diffuse esophageal spasm. A 73-year-old woman presented with dysphagia and regurgitation. Imaging examinations revealed a right-sided esophageal diverticulum located about 10cm above the esophagogastric junction. High-resolution manometry revealed normal esophageal motility. However, 24-h pH monitoring revealed continuous acidity due to pooling of residue in the diverticulum. An esophageal epiphrenic diverticulum was diagnosed and resected thoracoscopically. Her dysphagia recurred 2 years later. High-resolution manometry revealed diffuse esophageal spasm. The diverticulum in the present case was considered to have been associated with diffuse esophageal spasm. The motility disorder was likely not identified at the first evaluation. In this case, the patient's symptoms spontaneously resolved without any treatment; however, longer-term follow-up is needed. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  5. Esophageal epiphrenic diverticulum associated with diffuse esophageal spasm

    PubMed Central

    Matsumoto, Hideo; Kubota, Hisako; Higashida, Masaharu; Manabe, Noriaki; Haruma, Ken; Hirai, Toshihiro

    2015-01-01

    Introduction Esophageal diverticulum, a relatively rare condition, has been considered to be associated with motor abnormalities such as conditions that cause a lack of coordination between the distal esophagus and lower esophageal sphincter. Presentation of case We herein report a case of esophageal epiphrenic diverticulum associated with diffuse esophageal spasm. A 73-year-old woman presented with dysphagia and regurgitation. Imaging examinations revealed a right-sided esophageal diverticulum located about 10 cm above the esophagogastric junction. High-resolution manometry revealed normal esophageal motility. However, 24-h pH monitoring revealed continuous acidity due to pooling of residue in the diverticulum. An esophageal epiphrenic diverticulum was diagnosed and resected thoracoscopically. Her dysphagia recurred 2 years later. High-resolution manometry revealed diffuse esophageal spasm. Discussion The diverticulum in the present case was considered to have been associated with diffuse esophageal spasm. The motility disorder was likely not identified at the first evaluation. Conclusion In this case, the patient’s symptoms spontaneously resolved without any treatment; however, longer-term follow-up is needed. PMID:26143577

  6. Left Ventricle Diverticulum with Partial Cantrell's Syndrome

    PubMed Central

    El Kouache, Mustapha; Labib, S.; El Madi, A.; Babakhoya, A.; Atmani, S.; Abouabdilah, Y.; Harandou, M.

    2012-01-01

    Cantrell syndrome is a very rare congenital disease associating five features: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the heart. In this paper, we report a case of partial Cantrell's syndrome with left ventricular diverticulum, triatrial situs solitus, ventricular septal defect, dextrorotation of the heart, an anterior pericardial diaphragmatic defect, and a midline supraumbilical abdominal wall defect with umbilical hernia. The 5-month-old patient underwent a successful cardiac surgical procedure. A PTFE membrane was placed on the apex of the heart to facilitate reopening of the patient's chest. Postoperative course was uneventful. The patient was discharged with good clinical condition and with a normal cardiac function. PMID:24826242

  7. Meckel-Gruber syndrome: A rare and lethal anomaly

    PubMed Central

    Imam, Abdelmutalab; Omer, Ilham M.; Hassan, Ibtsama M.A.; Elamin, Sara A.; Awadalla, Esra A.; Gadalla, Mohammed H.; Hamdoon, Tagwa A.

    2012-01-01

    Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth. PMID:27493335

  8. Meckel-Gruber syndrome: A rare and lethal anomaly.

    PubMed

    Kheir, Abdelmoneim E M; Imam, Abdelmutalab; Omer, Ilham M; Hassan, Ibtsama M A; Elamin, Sara A; Awadalla, Esra A; Gadalla, Mohammed H; Hamdoon, Tagwa A

    2012-01-01

    Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features described. We describe a female baby who had the typical triad of Meckel-Gruber syndrome and died shortly after birth.

  9. Diverticulum With Papillae: Does Position of Papilla Affect Technical Success?

    PubMed

    Parlak, Erkan; Suna, Nuretdin; Kuzu, Ufuk B; Taşkiran, İsmail; Yildiz, Hakan; Torun, Serkan; Yüksel, Mahmut; Çiçek, Bahattin; Dişibeyaz, Selçuk; Şahin, Burhan

    2015-10-01

    The presence of peripapillary diverticulum (PPD) can cause some biliary diseases, especially common bile duct stones, and also, literally, can change the technique of endoscopic retrograde cholangiopancreatography (ERCP) and affect the complication ratio of this procedure. In this study, we investigate the effect of localization and position of the papilla according to the diverticulum on the success of therapeutic ERCP procedures. The study was conducted prospectively in the patients with naive papillae, who underwent ERCP for a period of 16 months. In all patients, the position of papillae according to the diverticulum (the periphery of the diverticulum is thought as the clock circumference, and the position of papillae is defined as the dials of clock), the success rate of biliary cannulation, total procedure time, overall treatment success rate of ERCP, and the complications are investigated. During this period, 222 (18.5%) of the 1205 enrolled patients who underwent ERCP had PPD. Of the patients with PPD, 123 (55.4%) were female and 99 (44.6%) were male, and the median age was 68.9±10.1 years. According to the position of the papilla by the diverticulum, 90 (40.5%) patients have it on 7 o'clock position, 64 (28.8%) patients have on 6 o'clock position, 63 (28.3%) patients have on 5 o'clock position, and 5 (2.3%) patients have on 1 o'clock position. In the cases of the papilla on 1 o'clock position according to the diverticulum, cannulation procedures were found to be more difficult than other patients (P<0.05). The presence of the diverticulum did not affect the success of therapeutic procedures and did not increase the ratio of complications. In the presence of PPD, additional cannulation techniques may be required for the procedure. Particularly, the aid of percutaneous techniques may be needed for the papilla on 1 o'clock position.

  10. Rare Mesenteric Location of Meckel’s Diverticulum, A Forgotten Entity: A Case Study Aboard USS Kitty Hawk

    DTIC Science & Technology

    2004-11-01

    or freqttcncy. His past medical history was significant only for long standing nodular acne treated chronically with 100 inu oral doxycycline twice...whorled gray-tan mass with some cystic spaces that appeared to surface beneath the submucosa but did not appear to communicate with the mueosal surface...The remaining nodule was notable for an area of light brown to tan whorled tissue that revealed cystic yel- low-green material. There was also a

  11. Spontaneous Rupture of Adenocarcinoma of Meckel’s Diverticulum- A Rare Entity

    PubMed Central

    2015-01-01

    Meckel’s diverticulum is a true diverticulum from remnant of vitelline duct. It is most common congenital anomaly of intestine. It is associated with intestinal atresia and anorectal anomalies. It contains heterotrophic epithelium. Most common heterotrophic mucosa is gastric followed by pancreatic tissue. Adenocarcinoma arising from Meckel’s diverticulum is very rare. Spontaneous perforation of adenocarcinoma rarely reported. Most of perforation reported in Meckel’s diverticulum diagnosed during intraoperative period. This is a case report of spontaneous rupture of adenocarcinoma of Meckel’s diverticulum, which was managed with primary resection and ileostomy. PMID:26672729

  12. Flexible endoscopic and surgical management of Zenker's diverticulum.

    PubMed

    Dzeletovic, Ivana; Ekbom, Dale C; Baron, Todd H

    2012-08-01

    Zenker's diverticulum is an outpouching of the mucosa through the Killian's triangle. The etiology of Zenker's diverticulum is not well understood. It is thought to be due to the incoordination or incomplete relaxation of the cricopharyngeal muscle. Most patients are men who present with symptoms of dysphagia between the seventh and eighth decades of life. The diagnosis is made with a dynamic contrast swallowing study. Treatment options include open surgical diverticulectomy and diverticulopexy with myotomy or myotomy alone using flexible or rigid endoscopes. Rigid endoscopic treatment is currently the preferred initial choice for Zenker's diverticulum of any size. The flexible endoscopic technique is used when there is a high risk of general anesthesia, or neck extension is contraindicated. Some centers use flexible endoscopy as the initial treatment option. Due to a lack of prospective studies, the treatment choice should be tailored to the individual patient and local expertise.

  13. Huge uterine-cervical diverticulum mimicking as a cyst.

    PubMed

    Chufal, S; Thapliyal, Naveen; Gupta, Manoj; Pangtey, Nirmal

    2012-01-01

    Here we report an incidental huge uterine-cervical diverticulum from a total abdominal hysterectomy specimen in a perimenopausal woman who presented with acute abdominal pain. The diverticulum was mimicking with various cysts present in the lateral side of the female genital tract. Histopathological examination confirmed this to be a cervical diverticulum with communication to uterine cavity through two different openings. They can attain huge size if left ignored for long duration and present a diagnostic challenge to clinicians, radiologists, as well as pathologists because of its extreme rarity. Therefore, diverticula should also be included as a differential diagnosis. Its histopathological confirmation also highlights that diverticula can present as an acute abdomen, requiring early diagnosis with appropriate timely intervention. Immunohistochemistry CD 10 has also been used to differentiate it from a mesonephric cyst.

  14. Urinary bladder diverticulum and its association with malignancy: an anatomical study on cadavers.

    PubMed

    Prakash; Rajini, T; Kumar Bhardwaj, Ajay; V, Jayanthi; Kalyani Rao, P; Singh, Gajendra

    2010-01-01

    Present work was directed to study the prevalence and anatomical basis of diverticulum formation and its association with malignancy inside the urinary bladder on cadavers. Urinary bladder diverticulum and its complications including malignancy has been reported by different authors based on their study on radiological findings and endoscopy. Present study was undertaken on cadavers to meet the aforementioned objectives. Thirty properly embalmed cadavers (19 males and 11 females) of different ages were dissected. Sagittal section of pelvis was studied. Urinary bladder was incised to expose the interior and it was examined for the presence of diverticulum (including number and location). Detailed history of the cause of death of cadavers with diverticulum was studied to determine how many of them suffered from urinary bladder diverticular carcinoma. 23.4% cadavers (31.6% males and 9.1% females) showed presence of urinary bladder diverticulum. The location of the diverticulum in all the cadavers was on superior and lateral side of the ureteric opening on the posterior surface of the urinary bladder. Diverticulum of one male cadaver aged 74 years was complicated by malignancy. Our study observed greater prevalence of diverticulum formation as compared to previous reports. In the present work, 14.3% diverticulum of the urinary bladder showed malignant change, which is more than earlier reports in the literature. Urinary bladder diverticulum should neither be neglected nor ignored. Appropriate early treatment (including the cause) of the diverticulum should be undertaken to avoid complications like malignancy which will finally ensure longevity.

  15. Clinics in diagnostic imaging (162). Meckel’s diverticulum

    PubMed Central

    Singh, Dinesh R; Pulickal, Geoiphy G; Lo, Zhiwen J; Peh, Wilfred CG

    2015-01-01

    A 28-year-old Chinese man presented with acute bleeding per rectum. Computed tomography showed a posterior outpouching arising from the distal ileum. The outpouching had hyperaemic walls, but no active contrast extravasation was detected. Technetium-99m pertechnetate scintigraphy showed focal areas of abnormal uptake in the right side of the pelvis, superior and posterior to the urinary bladder. These areas of uptake appeared simultaneously with the gastric uptake and demonstrated gradual increase in intensity on subsequent images. The diagnosis of Meckel’s diverticulum was confirmed on surgery and the lesion was resected. The clinical and imaging features of Meckel’s diverticulum are discussed. PMID:26451056

  16. Iatrogenic Uterine Diverticulum in Pregnancy After Robotic-assisted Myomectomy.

    PubMed

    DeStephano, Christopher C; Jernigan, Amelia M; Szymanski, Linda M

    2015-01-01

    Uterine diverticula are rare outpouchings of the uterus associated with abnormal uterine bleeding, pelvic pain, dysmenorrhea, and adverse obstetric events. At the time of cesarean delivery at 36 5/7 weeks' gestation during the patient's first pregnancy and 36 6/7 weeks during the second pregnancy, a fundal iatrogenic uterine diverticulum at the site of a prior robotic-assisted myomectomy was noted. The outpouching communicated with the endometrial cavity and was extremely attenuated, palpably 2 to 3 mm thick. Further research is needed to determine the incidence of iatrogenic uterine diverticulum after robotic myomectomy and whether these malformations increase the risk of adverse obstetric outcomes.

  17. [Aneurysm of the diverticulum of the ductus arteriosus].

    PubMed

    Hattori, T; Hirata, K; Shimizu, S

    1994-01-01

    Aneurysm of the diverticulum of the ductus arteriosus in adult is rare, with only 37 cases reported so far in the literatures. A 18-year-old male was admitted for abnormal tumor shadow in the scout chest X-ray film. Ductal aneurysm was preoperatively diagnosed by chest CT scan, MRI, UCG, and angiography, and was confirmed by the intraoperative findings. In this patient, narrow isthmus and ductus diverticulum were supposed to be contributing factors for aneurysm formation. The aneurysm was approached through a posterolateral thoracotomy and aneurysmal orifice was closed with a trimmed dacron graft under partial femoro-femoral cardiopulmonary bypass. Postoperative course was uneventful.

  18. Midesophageal Pulsion Diverticulum Resulting From Hypercontractile (Jackhammer) Esophagus.

    PubMed

    Khullar, Onkar V; Shroff, Sagar R; Sakaria, Sonali S; Force, Seth D

    2017-02-01

    We report a patient with significant dysphagia from hypercontractile "jackhammer" esophagus and a midesophageal pulsion diverticulum. This was treated with a thoracoscopic diverticulectomy and a long esophageal myotomy sparing the lower esophageal sphincter (LES). We describe the clinical diagnosis and surgical treatment of this uncommon esophageal motility disorder. To our knowledge, this is the first report in the literature of a midesophageal diverticulum caused by jackhammer esophagus. We propose that in the setting of normal LES function, successful treatment should include diverticulectomy with an LES-sparing myotomy. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Dandy-Walker anomaly in Meckel-Gruber syndrome.

    PubMed

    Cincinnati, P; Neri, M E; Valentini, A

    2000-01-01

    We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.

  20. Johann Friedrich Meckel the Younger (1781-1833).

    PubMed

    Seidler, E

    1984-08-01

    On the occasion of the 200th anniversary of the birthday of Johann Friedrich Meckel the Younger (1781-1833) it is appropriate to examine his contributions to the field of clinical genetics. Special emphasis is given to his laws of "diversity" and "reduction." These deal respectively with the evolutionary and developmental differences between organisms and the reasons for similarities in development of parts of an organism and the parts of different organisms. Meckel is an important pioneer of modern clinical teratology because he did not restrict his studies to normal development, but rather concentrated on its aberrations in his reflections on the history of development.

  1. Rare cause of trigeminal neuralgia: Meckel's cave meningocele.

    PubMed

    Alobaid, Abdullah; Schaeffer, Todd; Virojanapa, Justin; Dehdashti, Amir R

    2015-07-01

    The most common etiology of classic trigeminal neuralgia is vascular compression. However, other causes must be excluded. It is very unlikely that a meningocele presents with symptomatic trigeminal neuralgia. We present a rare case of a patient presenting with left trigeminal neuralgia. Thin-slice CT and MRI showed a transclival Meckel's cave meningocele. The patient underwent endoscopic repair of the meningocele, which resulted in complete resolution of her symptoms. Meckel's cave meningocele or encephalocele should be considered among the differential diagnoses of trigeminal neuralgia. Meningocele repair should be suggested as the first treatment option in this rare situation.

  2. Meckel syndrome and the prenatal diagnosis of neural tube defects.

    PubMed Central

    Seller, M J

    1978-01-01

    Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy. Images PMID:745218

  3. Syncope with Surprise: An Unexpected Finding of Huge Gastric Diverticulum

    PubMed Central

    Atzeni, Jenny; Messina Campanella, Antonio; Saba, Alessandra

    2016-01-01

    A gastric diverticulum is a pouch protruding from the gastric wall. The vague long clinical history ranging between dyspepsia, postprandial fullness, and upper gastrointestinal bleeding makes this condition a diagnostic challenge. We present a case of large gastric diverticulum that has been diagnosed during clinical investigations for suspected cardiovascular issues in a patient admitted at the medical ward for syncope. A 51-year-old man presented to the medical department due to a syncopal episode occurring while he was resting on the beach after having his lunch, with concomitant vague epimesogastric gravative pain without any other symptom. A diagnosis of neuromediated syncopal episode was made by the cardiologist. Due to the referred epimesogastric pain, an abdominal ultrasound scan was carried out, showing perisplenic fluid. A CT scan of the abdomen was performed to exclude splenic lesions. The CT scan revealed a large diverticulum protruding from the gastric fundus. The upper gastrointestinal endoscopy visualized a large diverticular neck situated in the posterior wall of the gastric fundus, partially filled by undigested food. The patient underwent surgery, with an uneventful postoperative course. Histologic examination showed a full-thickness stomach specimen, indicative of a congenital diverticulum. At the 2nd month of follow-up, the patient was asymptomatic. PMID:27313940

  4. Urethral diverticulum with massive lithiasis presenting as a scrotal mass.

    PubMed

    Labanaris, Apostolos P; Zugor, Vahudin; Witt, Jorn H; Nützel, Reinhold; Kühn, Reinhard

    2011-01-01

    Urethral diverticula in men are uncommon clinical entities. Their clinical manifestations include urinary tract infection, hematuria, irritative or obstructive voiding symptoms, ventral bulging and displacement of the penile shaft. Male urethral diverticulum with massive lithiasis presenting as a scrotal mass with stress urinary incontinence as the main symptom is extremely rare. Herein, we present such a case. Copyright © 2011 S. Karger AG, Basel.

  5. Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives.

    PubMed

    Mohamed, Sarar; Ibrahim, Fatima; Kamil, Kameel; Satti, Satti A

    2012-01-01

    Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation.

  6. Meckel-Gruber syndrome: Antenatal diagnosis and ethical perspectives

    PubMed Central

    Ibrahim, Fatima; Kamil, Kameel; Satti, Satti A.

    2012-01-01

    Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation. PMID:27493349

  7. Fetal autopsy of Meckel Gruber syndrome -a case report.

    PubMed

    Bolineni, Chandrika; Nagamuthu, Ezhil Arasi; Neelala, Neelaveni

    2013-10-01

    Meckel Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post-axial polydactyly. One such rare case at 28 weeks of gestation was terminated and its case report with the phenotypic features, fetal autopsy and histo-pathological examination are discussed.

  8. Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.

    PubMed

    Khurana, Shruti; Saini, Vikram; Wadhwa, Vibhor; Kaur, Harveen

    2017-06-01

    Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent confirmation and correlation by fetal autopsy.

  9. Johann Friedrich Meckel, the Younger (1781-1833).

    PubMed

    Gluecklich, B

    1976-09-01

    Meckel's name is well known in the medical world because of the intestinal abnormality that carries his eponym. We are less familiar with his personal life and his far-reaching achievement as a prominent anatomist. Also described is his complex personality as well as the indelible impression he made on his contemporaries.

  10. [A case of epidermoid tumor inside the Meckel's cave].

    PubMed

    Ohta, H; Ottomo, M; Nakamura, T; Yokota, A

    1997-10-01

    An epidermoid tumor inside the Meckel's cave is rare. The symptoms caused by this tumor include trigeminal neuralgia, facial hypesthesia and paresis of the 3rd, 4th and 6th nerves. A case of epidermoid tumor inside Meckel's cave was presented. A 54-year-old female who had complained of 3rd nerve palsy with right facial hypesthesia since 3 years before was referred to our clinic. Magnetic resonance imaging (MRI) showed the tumor at Meckel's cave. The tumor removal was performed using the orbito-zygomatic approach. To avoid injury of the internal carotid artery and nerves inside the cavernous sinus, removal of the tumor inside the capsule was carried out leaving the capsule. Postoperatively, the tumor removal was confirmed by MRI and improvement of the 3rd and the 5th nerve palsy was obtained three months after surgery. This case suggests that the capsule of the tumor inside the Meckel's cave should be allowed to remain to avoid injury of the adjacent 4th, 5th and 6th nerves and of the internal carotid artery.

  11. A Case of Symptomatic Tracheal Diverticulum and Surgical Resection as a Treatment Modality

    PubMed Central

    Lee, Shin-Young; Joo, Seok; Lee, Geun Dong; Ham, Seok Jin; Park, Chul Hwan; Lee, Sungsoo

    2016-01-01

    Tracheal diverticulum is often diagnosed incidentally and, due to its rarity, there is no standard treatment. It is a benign entity, but has the potential to cause specific symptoms, such as chronic upper respiratory infection and chronic cough. Symptomatic tracheal diverticulum can be medically treated, but likelihood of recurrence is high. We report a case of surgical resection of symptomatic tracheal diverticulum to prevent recurrence. PMID:27734005

  12. Female urethral diverticulum containing a giant calculus: a CARE-compliant case report.

    PubMed

    Dong, ZhiLong; Wang, Hanzhang; Zuo, LinJun; Hou, MingLi

    2015-05-01

    Urethral diverticula with calculi have a low incidence as reported in the literature. Diverticulum of female urethra is rare, often discovered due to associated complications. We report a case of diverticulum of the female urethra containing giant calculi in a 62-year-old multiparous woman. She consulted with our office due to dysuria and a hard, painful periurethral mass in the anterior vagina wall. The diverticulum was approached surgically by a vaginal route, and local extraction of the calculi and subsequent diverticulectomy successfully treated the condition.Diagnosis of a complicated diverticulum can be easily achieved if one possesses a high degree of clinical symptoms.

  13. [Genealogy of the Meckel anatomy family (from Hem[b]sbach)].

    PubMed

    Viebig, Michael; Schultka, Rüdiger

    2002-11-01

    The main goal of our investigations is to complete the genealogy of the famous Meckel dynasty. It is important to answer a lot of questions which have remained unanswered until now. During the investigations we were able to find the names of three children who died early and were dissected by their father Philipp Friedrich Theodor Meckel (1755-1803). Besides, it was possible to extend distinctly our knowledge of the various genealogical lines of the Meckel family.

  14. A Rare Cause of Dysphagia--Kommerell's Diverticulum.

    PubMed

    Parikh, Pathik; Nasa, Mukesh; Patil, Sandeep; Patel, Jatin; Bhate, Prasad; Sawant, Prabha

    2015-01-01

    A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch with associated ventricular septal defect. Fewer than 50 cases have been reported in literature so far. Our patient presented with short duration of dysphagia without any syncope or left subclavian steal syndrome. The major morbidity was caused by Barrett's oesophagus with reflux and a mixed paraoesophageal and hiatal hernia. There was associated psoriasis. An attempt at repair was not undertaken because of the high operative risk and a small aneurysm. Left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method.

  15. Bilateral Obstructive Uropathy Secondary to Giant Periureteral Diverticulum

    PubMed Central

    San Jose Manso, Luis Alberto; Olivier Gomez, Carlos; Silmi Moyano, Angel Nellyt

    2013-01-01

    Bladder diverticula are herniations of the mucosa through the fibers of the bladder muscle connected by necks of variable amplitude. They are often asymptomatic, although they may lead to complications that require a surgical therapeutic approach. We report the case of a patient with bilateral obstructive uropathy secondary to a giant periureteral diverticulum that was treated by diverticulectomy and reimplantation of the left ureter in the bladder. PMID:24251064

  16. Surgical Treatment of Epiphrenic Diverticulum: Technique and Controversies.

    PubMed

    Andolfi, Ciro; Wiesel, Ory; Fisichella, P Marco

    2016-11-01

    The goal of this article is to illustrate the current minimal invasive approaches to patients with epiphrenic diverticulum in terms of preoperative evaluation, surgical technique, and outcomes. Two techniques will be presented: a laparoscopic and a video-assisted thoracic repair. Indications for each technique will be discussed as well as proper patient selection and management. Current controversies in the treatment of patients with this rare disease will be addressed.

  17. [Laparoscopic management of oesophageal epiphrenic diverticulum: a case report].

    PubMed

    Ceretti, Andrea Pisani; Carzaniga, Pierluigi

    2005-01-01

    Epiphrenic diverticuli are rare pulsion "pseudodiverticuli" of the distal oesophagus that are commonly associated with oesophageal motility disorders. Surgical treatment is usually reserved for patients with symptoms. Traditionally, patients are treated with diverticulectomy, myotomy and fundoplication via a left thoracotomy. The aim of this study was to describe the laparoscopic technique and review the international literature on this minimally invasive approach. We report the case of a 66-year-old woman with a 1-year history of retrosternal pain, regurgitation and weight loss caused by an oesophageal epiphrenic diverticulum. The patient underwent barium oesophagography and oesophagogastroduodenoscopy. The oesophageal diverticulum measured 5 cm. We treated the condition with a laparoscopic oesophageal diverticulectomy, Heller myotomy and Dor fundoplication with intraoperative endoscopy. The operative time was 210 minutes. The postoperative course was complicated by a suspected leakage from the staple line, which was not subsequently confirmed. The patient is now totally asymptomatic after 3 months. Laparoscopy offers good access to the distal oesophagus and the inferior mediastinum. Resection of the diverticulum, treatment of the motor disorder and prevention of postoperative reflux can be obtained with this approach. It should be considered as an alternative to the traditional transthoracic approach and may eventually become the standard technique.

  18. Videothoracoscopic management of middle esophageal diverticulum with secondary bronchoesophageal fistula: report of a case.

    PubMed

    Braghetto, Italo; Cardemil, Gonzalo; Schwartz, Eitan; Valladares, Hector; Rencoret, Guillermo; Estay, Rene; Rodriguez-Navarro, Alberto J

    2008-01-01

    Middle esophageal diverticulum is rare, but can result in bronchoesophageal fistula. Previous reports have described open surgical techniques to treat esophageal diverticula, but few have evaluated the effectiveness of a videothoracoscopy approach. We report a case of middle esophageal diverticulum associated with bronchoesophageal fistula, managed successfully with videothoracoscopy. We also review the relevant literature.

  19. Unusual association of multiple congenital left ventricular diverticulum and cerebrovascular events in an adult.

    PubMed

    Alkan, Mustafa Beyazıt; Bilgin, Murat; Zihni, Burcu; Nalbantgil, Sanem

    2015-04-01

    Congenital ventricular diverticulum is a rare and usually asymptomatic cardiac malformation which can cause major complications such as systemic thromboembolism, infective endocarditis, cardiac rupture, heart failure, arrhythmia and sudden death. We present a case with multiple congenital left ventricular diverticulum admitted to hospital with sudden onset right-sided hemiplegia and dysarthria.

  20. Meckel-Gruber syndrome: Report of two cases

    PubMed Central

    Panduranga, C; Kangle, Ranjit; Badami, Rajshree; Patil, Prakash V

    2012-01-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy. PMID:22346195

  1. Meckel Gruber syndrome: occurrence in non-consanguineous marriages.

    PubMed

    de Silva, M V C; Senanayake, H; Siriwardana, K D V P

    2004-03-01

    Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.

  2. Meckel-Gruber syndrome: Report of two cases.

    PubMed

    Panduranga, C; Kangle, Ranjit; Badami, Rajshree; Patil, Prakash V

    2012-01-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.

  3. Epidermoid tumor within Meckel's cave--case report.

    PubMed

    Nadkarni, T; Dindorkar, K; Muzumdar, D; Goel, A

    2000-01-01

    A rare case of an epidermoid tumor lying within Meckel's cave is reported. A 27-year-old housewife presented with complaints of right facial hypesthesia for two and a half years. On examination she had partial loss of touch sensation in the right trigeminal nerve distribution. Magnetic resonance imaging revealed a tumor located at the right petrous apex and cavernous sinus. The epidermoid tumor was excised through a lateral basal subtemporal approach. The symptoms resolved following surgery.

  4. Tuberculoma in the Meckel's cave: a case report.

    PubMed

    Goel, A; Nadkarni, T; Desai, A P

    1999-09-01

    A case of an intracranial tuberculoma located within the confines of the Meckel's cave is presented. The patient was young, non-immunocompromised and otherwise in good health. The granuloma mingled with the fibres of the trigeminal nerve. The lesion mimicked a trigeminal neurinoma in its clinical presentation, preoperative investigations and intraoperative consistency and vascularity. The rarity of the location and possible mode of transmission of infection to this site is discussed. The literature on this subject is briefly reviewed.

  5. Asymmetric Meckel Cave Enlargement: A Potential Marker of PHACES Syndrome.

    PubMed

    Wright, J N; Wycoco, V

    2017-06-01

    PHACES syndrome is a complex of morphologic abnormalities of unknown cause and includes posterior fossa abnormalities; head and neck infantile hemangiomas; arterial, cardiac, and eye anomalies; and sternal or abdominal wall defects. Accurate identification of the syndrome is important for optimal treatment. The purpose of this study was to investigate the incidence of asymmetric Meckel cave enlargement, a potential novel imaging marker, in a population of patients referred for evaluation of possible PHACES syndrome. Eighty-five patients referred for neuroimaging evaluation of possible PHACES syndrome were identified and stratified on the basis of their ultimate clinical PHACES diagnosis categorization into PHACES, possible PHACES, or not PHACES. MR imaging studies were subsequently reviewed for the presence or absence of unilateral Meckel cave enlargement, with the reviewer blinded to the ultimate PHACES syndrome categorization. Twenty-five of 85 patients (29%) were ultimately categorized as having PHACES or possible PHACES according to consensus guidelines. Asymmetric Meckel cave enlargement was present in 76% (19/25) of these patients and in 82% (19/23) of only those patients with definite PHACES. This finding was present in none of the 60 patients determined not to have PHACES syndrome. In 7/19 patients (37%) with this finding, subtle MR imaging abnormalities consistent with PHACES were missed on the initial MR imaging interpretation. Asymmetric Meckel cave enlargement was a common feature of patients with PHACES in our cohort and may serve as a novel imaging marker. Increased awareness of this imaging feature has the potential to increase the diagnostic accuracy of PHACES. © 2017 by American Journal of Neuroradiology.

  6. Meckel-Gruber syndrome. Importance of prenatal diagnosis.

    PubMed

    Nyberg, D A; Hallesy, D; Mahony, B S; Hirsch, J H; Luthy, D A; Hickok, D

    1990-12-01

    Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

  7. Lesions in Meckel's cave: variable presentation and pathology.

    PubMed

    Beck, D W; Menezes, A H

    1987-11-01

    A series of 12 patients with mass lesions arising from Meckel's cave is presented. Patients' age on presentation ranged from 13 months to 71 years. Nine of the 12 patients had symptoms referable to the fifth cranial nerve, but only three complained of facial pain. The 12 patients presented eight different pathological entities, including meningioma, lipoma, schwannoma, malignant melanotic schwannoma, arachnoid cyst, neurofibroma, epidermoid tumor, and chordoma. Computerized tomography and magnetic resonance imaging were most useful in localizing the lesion to Meckel's cave. All 12 patients underwent a subtemporal approach to the lesion, and gross total removal was achieved in 11. Postoperative results were excellent with no increased neurological deficits seen 3 months postoperatively. Most patients had resolution of the cranial nerve deficits except for fifth nerve function, which was impaired in nine patients postoperatively. This series demonstrates that lesions in Meckel's cave can have a varied and unusual presentation, as well as an assortment of pathology. Total removal of lesions in this area resulted in relief of symptoms in most patients, with minimum morbidity.

  8. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature.

    PubMed

    Parelkar, Sandesh V; Kapadnis, Satish P; Sanghvi, Beejal V; Joshi, Prashant B; Mundada, Dinesh; Oak, Sanjay N

    2013-05-01

    Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature.

  9. Tuberculoma of the Cavernous Sinus and Meckel's Cave in a Child.

    PubMed

    Kumar, V R Roopesh; Madhugiri, Venkatesh S; Verma, Surendra Kumar; Barathi, S Deepak; Yadav, Awdhesh Kumar; Bidkar, Prasanna

    2013-01-01

    Tuberculous infection of the cavernous sinus and Meckel's cave is extremely rare. In this report, we describe a patient with tuberculoma of the cavernous sinus and Meckel's cave, extending to the petrous apex. The patient underwent microsurgical excision of the lesion and antitubercular chemotherapy resulting in a good outcome. We describe the diagnostic difficulties and review the relevant literature.

  10. Extra-axial ependymoma of posterior fossa extending to the Meckel's cave.

    PubMed

    Torun, Fuat; Tuna, Hakan; Bozkurt, Melih; Deda, Haluk

    2005-06-01

    An extra-axial ependymoma extending from the left cerebellopontine corner to the Meckel's cave is reported. This lesion's clinical, radiological, and histological characteristics are presented. This tumor's infrequent extra-axial location, extension to the Meckel's cave and possible origin are discussed.

  11. Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome.

    PubMed

    Clotman, Frédéric; Libbrecht, Louis; Killingsworth, Murray C; Loo, Christine C K; Roskams, Tania; Lemaigre, Frédéric P

    2008-03-01

    Meckel syndrome is an autosomal-recessive disease characterized by a combination of renal cysts, anomalies of the central nervous system, polydactyly and ductal plate malformations (DPM), which are hepatic anomalies consisting of excessive and abnormal foetal biliary structures. Among the genomic loci associated with Meckel syndrome, mutations in four genes were recently identified. These genes code for proteins associated with primary cilia and are possibly involved in cell differentiation. The aim of the present work was to investigate the formation of the primary cilia and the differentiation of the hepatic cells in foetuses with Meckel syndrome. Sections of livers from human foetuses with Meckel syndrome were analysed by immunofluorescence, immunohistochemistry and electron microscopy. The primary cilia of the biliary cells were absent in some Meckel foetuses, but were present in others. In addition, defects in hepatic differentiation were observed in Meckel livers, as evidenced by the presence of hybrid cells co-expressing hepatocytic and biliary markers. Defects in cilia formation occur in some Meckel livers, and most cases show DPM associated with abnormal hepatic cell differentiation. Because differentiation precedes the formation of the cilia during liver development, we propose that defective differentiation may constitute the initial defect in the liver of Meckel syndrome foetuses.

  12. Meckel cave: computed tomographic study. Part I. Normal anatomy. Part II. Pathology

    SciTech Connect

    Kapila, A.; Chakeres, D.W.; Blanco, E.

    1984-08-01

    A formalin-fixed cadaver head with air filling the cisternal and ventricular spaces was scanned by high-resolution computed tomography (CT) in multiple planes (axial, coronal, and sagittal) through the Meckel cave. Correlation of the CT appearance of the Meckel cave was made with an anatomic dissection and whole-head band saw cross-sections. CT techniques allowed consistent and accurate definition of the Meckel cave, the fifth cranial nerve, and adjacent anatomic structures. CT findings of 13 patients with lesions of the Meckel cave are also reviewed, including six trigeminal schwannomas, three meningiomas, two secondary tumors, one glioma, and one congenital fatty tumor. Surgical confirmation was present in 11 cases. Diagnosis and determination of the extent of Meckel cave lesions is possible with the use of high-resolution CT.

  13. Impacted anterior urethral calculus complicated by a stone-containing diverticulum in an elderly man: outcome of transurethral lithotripsy without resection of the diverticulum.

    PubMed

    Zhou, Tie; Chen, Guanghua; Zhang, Wei; Peng, Yonghan; Xiao, Liang; Xu, Chuangliang; Sun, Yinghao

    2013-01-01

    The prevalence of lower urinary tract symptoms (LUTS) is about 20% in men aged 40 or above. Other than benign prostatic hyperplasia (BPH), urethral diverticulum or calculus is not uncommon for LUTS in men. Surgical treatment is often recommended for urethral diverticulum or calculus, but treatment for an impacted urethral calculus complicated by a stone-containing diverticulum is challenging. An 82-year-old man had the persistence of LUTS despite having undergone transurethral resection of prostate for BPH. Regardless of treatment with broad spectrum antibiotics and an α-blocker, LUTS and post-void residual urine volume (100 mL) did not improve although repeated urinalysis showed reduction of WBCs from 100 to 10 per high power field. Further radiology revealed multiple urethral calculi and the stone configuration suggested the existence of a diverticulum. He was successfully treated without resecting the urethral diverticulum; and a new generation of ultrasound lithotripsy (EMS, Nyon, Switzerland) through a 22F offset rigid Storz nephroscope (Karl Storz, Tuttingen, Germany) was used to fragment the stones. The operative time was 30 minutes and the stones were cleanly removed. The patient was discharged after 48 hours with no immediate complications and free of LUTS during a 2 years follow-up. When the diverticulum is the result of a dilatation behind a calculus, removal of the calculus is all that is necessary. Compared with open surgery, ultrasound lithotripsy is less invasive with little harm to urethral mucosa; and more efficient as it absorbs stone fragments while crushing stones.

  14. Congenital Left Ventricular Diverticulum Complicated by Ventricular Fibrillation.

    PubMed

    Yamasaki, Manabu; Kawamatsu, Naoto; Yoshino, Kunihiko; Abe, Kohei; Misumi, Hiroyasu

    2017-09-01

    Congenital left ventricular diverticulum (CLVD) is a rare congenital anomaly and may be associated with fatal adverse events. A previously healthy 20-year-old man collapsed as a result of sudden ventricular fibrillation (VF). Despite intractable VF, he had return of spontaneous circulation with cardiopulmonary resuscitation and subsequent introduction of venoarterial extracorporeal membrane oxygenation (ECMO). After ECMO was discontinued, cardiac magnetic resonance imaging revealed CLVD at the posterolateral wall of the left ventricle. Given the risk of recurrent VF and left ventricular rupture, he underwent surgical repair for CLVD and implantation of a subcutaneous implantable cardioverter defibrillator. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  15. An unfortunate case of subaortic left ventricular diverticulum.

    PubMed

    Kumar, P Vinodh; Moorthy, Asha

    2016-09-01

    A 38-year-old man presented with exertional angina of 1-year duration. Treadmill was strongly positive. Coronary angiogram revealed a significant phasic systolic compression of the left main and the proximal left circumflex artery. Echo and MRI revealed a subaortic left ventricle diverticulum causing compression of the coronary vessels. Before the planned surgery, the patient had sudden deterioration with cardiogenic shock and could not be saved. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  16. Spontaneous Bladder Rupture Masquerading as Pseudo-diverticulum.

    PubMed

    Raghavendran, M; Kumar, Kiran G; Venugopal, A; Prasad, Shiva; Venkatesh, H A

    2017-05-01

    Spontaneous bladder rupture is rare. Presentation is non-specific and in absence of history of trauma, radiation, inflammatory conditions and other leading causes, there is considerable diagnostic delay. Absence of clear cut diagnostic signs leads to increased morbidity and mortality. In many patients, omentum seals perforation, giving diverticular appearance in Cystogram. The objective of this case report is to highlight important specific diagnostic points in history and radiology which will help in clear, early diagnosis and treatment causing immense benefit to the patient. We would also like to highlight a specific radiological point to distinguish true from pseudo-diverticulum.

  17. Meckel's cave access: anatomic study comparing the endoscopic transantral and endonasal approaches.

    PubMed

    Van Rompaey, Jason; Suruliraj, Anand; Carrau, Ricardo; Panizza, Benedict; Solares, C Arturo

    2014-04-01

    Recent advances in endonasal endoscopy have facilitated the surgical access to the lateral skull base including areas such as Meckel's cave. This approach has been well documented, however, few studies have outlined transantral specific access to Meckel's. A transantral approach provides a direct pathway to this region obviating the need for extensive endonasal and transsphenoidal resection. Our aim in this study is to compare the anatomical perspectives obtained in endonasal and transantral approaches. We prepared 14 cadaveric specimens with intravascular injections of colored latex. Eight cadavers underwent endoscopic endonasal transpterygoid approaches to Meckel's cave. Six additional specimens underwent an endoscopic transantral approach to the same region. Photographic evidence was obtained for review. 30 CT scans were analyzed to measure comparative distances to Meckel's cave for both approaches. The endoscopic approaches provided a direct access to the anterior and inferior portions of Meckel's cave. However, the transantral approach required shorter instrumentation, and did not require clearing of the endonasal corridor. This approach gave an anterior view of Meckel's cave making posterior dissection more difficult. A transantral approach to Meckel's cave provides access similar to the endonasal approach with minimal invasiveness. Some of the morbidity associated with extensive endonasal resection could possibly be avoided. Better understanding of the complex skull base anatomy, from different perspectives, helps to improve current endoscopic skull base surgery and to develop new alternatives, consequently, leading to improvements in safety and efficacy.

  18. Littre Hernia: A Rare Case of an Incarcerated Meckel’s Diverticulum

    PubMed Central

    Malling, Brian; Karlsen, Andreas Aarenstrup; Hern, Jesper

    2017-01-01

    Background A Meckel’s diverticulum is a remnant of the vitelline duct, which leads to the formation of a true diverticulum containing all layers of the small intestine. The diverticulum can contain ectopic gastric, duodenal or pancreatic tissue and is the most common congenital anomaly of the gastrointestinal tract with estimates of prevalence ranging from 0.3% to 3%. The condition is usually clinically silent. In children the most common complication is gastrointestinal bleeding caused by ulceration due to the acid secretion by ectopic gastric mucosa. PMID:28597002

  19. Acute Reversible Duodenitis Following Non-Therapeutic Upper Gastrointestinal Endoscopy. Is Duodenal Diverticulum a Predisposing Factor?

    PubMed Central

    Unal, Emre; Ayan, Elif Nurbegum; Yazgan, Sibel

    2016-01-01

    Summary Background Diagnostic upper gastrointestinal (UGI) endoscopy has been regarded as a safe procedure. Case report We report of a 67-year-old woman who developed epigastric pain and dyspeptic complaints following an uneventful upper gastrointestinal endoscopy. The diagnosis of an acute reversible duodenitis was made on the basis of imaging studies. A duodenal diverticulum was also found on CT images, which raised the suspicion that duodenal diverticulum could be a predisposing factor for duodenitis. Conclusions Despite significant inflammation the patient demonstrated rapid clinical improvement with conservative treatment. Presence of a duodenal diverticulum may predispose to acute duodenitis following diagnostic UGI endoscopy. PMID:27994697

  20. Delayed Failure after Endoscopic Staple Repair of an Anterior Spine Surgery Related Pharyngeal Diverticulum

    PubMed Central

    Al-Khudari, Samer; Succar, Eric; Ghanem, Tamer; Gardner, Glendon M.

    2013-01-01

    We present a rare complication of endoscopic staple repair of a pharyngeal diverticulum related to prior anterior cervical spine surgery. A 70-year-old male developed a symptomatic pharyngeal diverticulum 2 years after an anterior cervical fusion that was repaired via endoscopic stapler-assisted diverticulectomy. He initially had improvement of his symptoms after the stapler-assisted approach. Three years later, the patient presented with dysphagia and was found to have erosion of the cervical hardware into the pharyngeal lumen at the site of the prior repair. We present the first reported case of late hardware erosion into a pharyngeal diverticulum after endoscopic stapler repair. PMID:24454395

  1. Entering the duodenal diverticulum: A method for cannulation of the intradiverticular papilla

    PubMed Central

    Wang, Bao-Can; Shi, Wei-Bin; Zhang, Wen-Jie; Gu, Jun; Tao, Yi-Jing; Wang, Yu-Qin; Wang, Xue-Feng

    2012-01-01

    Successful cannulation of the common bile duct may be difficult in patients in whom the papilla is located entirely within a diverticulum. In this study, we report successful biliary cannulation in three patients following intubation of the distal tip of the duodenoscope into the duodenal diverticulum and locating the major papilla. No complications occurred during the operation or during the postoperative period. This method didn’t need second incubation an endoscope and might lower the burden of patients. So this skill is useful to deal with the papilla hidden inside the large diverticulum because of its safety and convenience. PMID:23326150

  2. Type 4 appendiceal diverticulum within a de Garengeot hernia

    PubMed Central

    Coveney, E

    2016-01-01

    A de Garengeot hernia is defined as an incarcerated femoral hernia containing the vermiform appendix. We describe the case of a patient with a type 4 appendiceal diverticulum within a de Garengeot hernia and delineate valuable learning points. A 76-year-old woman presented with a 2-week history of a non-reducible painless femoral mass. Outpatient ultrasonography demonstrated a 36mm × 20mm smooth walled, multiloculated, partially cystic lesion anterior to the right inguinal ligament in keeping with an incarcerated femoral hernia. Intraoperatively, the appendix was found to be incarcerated in the sac of the femoral hernia and appendicectomy was performed. Histopathology demonstrated no evidence of inflammation in the appendix. However, an incidental appendiceal diverticulum was identified. It is widely recognised that a de Garengeot hernia may present with concomitant appendicitis, secondary to raised intraluminal pressure in the incarcerated appendix. Appendiceal diverticulosis is also believed to develop in response to raised pressure in the appendix and may therefore develop secondary to incarceration in a de Garengeot hernia. To our knowledge, only one such case has been described in the literature. A de Garengeot hernia is a rare entity, which poses significant diagnostic challenges. A high index of clinical suspicion is necessary as these hernias are at particularly high risk of perforation and so prompt surgical management is paramount. PMID:27269437

  3. [Prenatal imaging of the Meckel-Gruber syndrome].

    PubMed

    Lowenstein, Lior; Solt, Ido; Reiss, Ari; Bardicef, Mordechai; Drugan, Arie

    2004-03-01

    A 32 years old woman, gravida 2 para 1, presented at 27 + 5 weeks' gestation with a large fetal head for the gestational age, an occipital encephalocele and ventriculomegaly. Both fetal kidneys were large, echogenic and multicystic, but oligohydramnion was not observed. Post-axial polydactyly of the fetal feet was demonstrated. The Meckel-Gruber syndrome was diagnosed, but termination of pregnancy was declined. Three weeks later, the patient spontaneously delivered an 1890 grams live-born female. The newborn died 2 days later in the neonate intensive care unit.

  4. Spontaneous Meckel's cave hematoma: A rare cause of trigeminal neuralgia

    PubMed Central

    Alafaci, Concetta; Grasso, Giovanni; Granata, Francesca; Marino, Daniele; Salpietro, Francesco M.; Tomasello, Francesco

    2015-01-01

    Background: The most common etiology of classic trigeminal neuralgia (TN) is vascular compression. However, other causes must be considered. Among these, spontaneous hematoma of the Meckel's cave (MC) causing symptomatic TN is very rare. Case Description: We present the case of a 60-year-old woman with a 2-month history of left TN and diplopia. Neuroradiological examinations revealed a well-defined hematoma in the left MC. The patient underwent surgical decompression with a progressive neurological improvement. Conclusion: Despite the number of lesions potentially affecting the MC, spontaneous hemorrhage is rare but should be taken into account in the differential diagnosis. PMID:26539319

  5. [Acute Meckel's diverticulitis perforated by a foreign body].

    PubMed

    Pahomeanu, M; Anghelide, A; Mandache, F

    1976-01-01

    The authors present the case of a patient with acute, right iliac fossa abdominal syndrome, simulating acute apendicitis. In the course of the intervention it was noted that the syndrome was determined by an acute Meckel diverticulitis, perforated by a foreign body (fish bone). In view of making the diagnosis of acute diverticulitis, that cannot be assessed before surgery, the importance is stressed of the correlation of the clinical aspects with the apendicular lesions found in the course of the operation, and, when there is no satisfactory concordance, careful checking of the cecum becomes necessary, as well as of the right annexe and of the ileon over at least three feet.

  6. Expression of DPP6 in Meckel's cartilage and tooth germs during mouse facial development.

    PubMed

    Du, J; Fan, Z; Ma, X; Wu, Y; Liu, S; Gao, Y; Shen, Y; Fan, M; Wang, S

    2014-01-01

    Dipeptidyl peptidase-like protein 6 (DPP6), a member of the dipeptidyl aminopeptidase family, plays distinct roles in brain development, but its expression in embryonic Meckel's cartilage and tooth germs development is unknown. We analyzed the expression pattern of DPP6 in Meckel's cartilage and tooth germs development using in situ hybridization. DPP6 was detected in different patterns in Meckel's cartilage and tooth germs during mouse facial development from 11.5 to 13.5 days post-coitus (dpc) embryos. The expression pattern of DPP6 suggests that it may be involved in mandible and tooth development.

  7. Endoscopic Submucosal Dissection of an Inverted Early Gastric Cancer-Forming False Gastric Diverticulum

    PubMed Central

    Lee, Yong-il; Lee, Sang-kil

    2016-01-01

    Endoscopic submucosal dissection (ESD) is a standard treatment for early gastric cancer (EGC) that does not have any risk of lymph node or distant metastases. Here, we report a case of EGC resembling a diverticulum. Diverticular formation makes it difficult for endoscopists to determine the depth of invasion and to subsequently perform ESD. Because the false diverticulum does not have a muscular layer, this lesion can be treated with ESD. Our case was successfully treated with ESD. After ESD, the EGC was confined to the submucosal layer without vertical and lateral margin involvement. This is the first case in which ESD was successfully performed for a case of EGC that coexisted with a false gastric diverticulum. An additional, larger study is needed to determine the efficacy of ESD in various types of EGC, such as a false gastric diverticulum. PMID:26855930

  8. Right aortic arch with aberrant left innominate artery arising from Kommerell's diverticulum*

    PubMed Central

    Faistauer, Ângela; Torres, Felipe Soares; Faccin, Carlo Sasso

    2016-01-01

    We report a case of an uncommon thoracic aorta anomaly-right aortic arch with aberrant left innominate artery arising from Kommerell's diverticulum-that went undiagnosed until adulthood. PMID:27777481

  9. The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

    PubMed

    Cierna, Zuzana; Janega, Pavol; Grochal, Frantisek; Ferianec, Vladimir; Braxatorisova, Tatiana; Strieskova, Lucia; Malova, Jana; Jungova, Petra; Szemes, Tomas

    2017-01-01

    Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17. Homozygous deletion in CC2D2A gene was found by Sanger sequencing. This is to our knowledge the first case of genetically confirmed Meckel-Gruber syndrome with incidental cofinding of mosaic trisomy 17. Abnormal karyotype does not exclude diagnosis of MKS with risk of recurrence 25% in next pregnancy. In the case of anomalies typical for Meckel-Gruber syndrome, genetic analysis is indicated.

  10. [Johann Friedrich Meckel the Younger (1781-1833) and modern teratology].

    PubMed

    Klunker, Rudyard; Göbbel, Luminita; Musil, Anette; Tönnies, Holger; Schultka, Rüdiger

    2002-11-01

    Among other special topics Johann Friedrich Meckel the Younger concentrated his scientific researches on the systematic investigations of the human and animal malformations. He explored many samples which were part of his private anatomical collection. Today, the Institute of Anatomy and Cell Biology possesses a number of important teratological preparations which Meckel and his graduate students minutely investigated (e.g. the individuals to the Meckel, Klippel Feil and Hanhart syndrome). The goals of our studies are to identify the samples originating from the Meckel Collections, and to reinvestigate them with modern methods. Two objects (brainless malformation, Halle I, and neural tube defect, Halle II) were analysed by comparative genomic hybridization (CGH). These results obtained are published in Toennies et al. (2002).

  11. [Endoscopic treatment of Zenker's diverticulum with soft diverticuloscope: a first Tunisian experience].

    PubMed

    Bizid, Sondes; Bouali, Riadh; Lahmar, Sana; Ben Abdallah, Hatem; Abdelli, Nabil

    2015-07-01

    Zenker's diverticulum is an acquired hernia from the posterior pharyngeal mucosa developed in the pharyngo-esophageal junction. The gold standard for diagnosis is pharyngo-esophageal barium swallow study. Open surgery with cricopharyngeal myotomy has long been the conventional treatment. Actually, endoscopic treatment is an efficient alternative to resolve the problem with shorter surgery duration and less complication. We report 3 cases of patients with Zenker's diverticulum treated with endoscopic approach in our department between 2013 and 2014. There were three men aged 71, 79 and 62 years admitted to our department with symptomatic Zenker's diverticulum. Predominant symptoms were dysphagia and regurgitation. Diverticulotomy with a flexible endoscope was performed for all patients, using argon plasma coagulation in the first case and a needle-knife in the two others. Hemostatic clips were placed at the end of the procedure. There was no complication in the last two cases. Perforation at the left lateral side of the cervical diverticulum was observed in the first patient solved by diet and antibiotics. We performed a pharyngo-esophageal barium swallow study before and after the intervention in all patients showing significant regression of the diverticulum and we observed a complete regression of clinical symptoms. Treatment with endoscopic approach using a flexible endoscope and a diverticuloscope for good exposure of the diverticulum is a safe procedure offering a rapid improvement of symptoms with a lower risk of complications and a shorter duration of hospitalization compared to surgical treatment.

  12. Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature

    PubMed Central

    Parelkar, Sandesh V.; Kapadnis, Satish P.; Sanghvi, Beejal V.; Joshi, Prashant B.; Mundada, Dinesh; Oak, Sanjay N.

    2013-01-01

    Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature. PMID:24082939

  13. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis.

    PubMed

    Alexiev, Borislav A; Lin, Xiaoqing; Sun, Chen-Chih; Brenner, David S

    2006-08-01

    This article provides an overview of the major pathologic manifestations of Meckel-Gruber syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and differential diagnosis. Typical sonographic findings (occipital encephalocele, postaxial polydactyly, and cystic enlargement of the kidneys) allow for diagnosis of most cases before the 14th week of gestation, but the pathologist may encounter clinically unsuspected or atypical cases that require morphologic confirmation. In these cases, a meticulous autopsy is necessary to establish the diagnosis of Meckel-Gruber syndrome.

  14. Acquired cervical spinal arachnoid diverticulum in a cat.

    PubMed

    Adams, R J; Garosi, L; Matiasek, K; Lowrie, M

    2015-04-01

    A one-year-old, female entire, domestic, shorthair cat presented with acute onset non-ambulatory tetraparesis. Magnetic resonance imaging was consistent with a C3-C4 acute non-compressive nucleus pulposus extrusion and the cat was treated conservatively. The cat was able to walk after 10 days and was normal 2 months after presentation. The cat was referred five and a half years later for investigation of an insidious onset 3-month history of ataxia and tetraparesis. Magnetic resonance imaging of the cervical spine was repeated, demonstrating a spinal arachnoid diverticulum at C3 causing marked focal compression of the spinal cord. This was treated surgically with hemilaminectomy and durectomy. The cat improved uneventfully and was discharged 12 days later. © 2014 British Small Animal Veterinary Association.

  15. Current status of minimally invasive endoscopic management for Zenker diverticulum.

    PubMed

    Aiolfi, Alberto; Scolari, Federica; Saino, Greta; Bonavina, Luigi

    2015-02-16

    Surgical resection has been the mainstay of treatment of pharyngoesophageal (Zenker) diverticula over the past century. Developments in minimally invasive surgery and new endoscopic devices have led to a paradigm change. The concept of dividing the septum between the esophagus and the pouch rather than resecting the pouch itself has been revisited during the last three decades and new technologies have been investigated to make the transoral operation safe and effective. The internal pharyngoesophageal myotomy accomplished through the transoral stapling approach has been shown to effectively relieve outflow obstruction and restore physiological bolus transit in patients with medium size diverticula. Transoral techniques, either through a rigid device or by flexible endoscopy, are gaining popularity over the open surgical approach due the low morbidity, the fast recovery time and the fact that the procedure can be safely repeated. We provide an analysis of the the current status of minimally invasive endoscopic management of Zenker diverticulum.

  16. Current status of minimally invasive endoscopic management for Zenker diverticulum

    PubMed Central

    Aiolfi, Alberto; Scolari, Federica; Saino, Greta; Bonavina, Luigi

    2015-01-01

    Surgical resection has been the mainstay of treatment of pharyngoesophageal (Zenker) diverticula over the past century. Developments in minimally invasive surgery and new endoscopic devices have led to a paradigm change. The concept of dividing the septum between the esophagus and the pouch rather than resecting the pouch itself has been revisited during the last three decades and new technologies have been investigated to make the transoral operation safe and effective. The internal pharyngoesophageal myotomy accomplished through the transoral stapling approach has been shown to effectively relieve outflow obstruction and restore physiological bolus transit in patients with medium size diverticula. Transoral techniques, either through a rigid device or by flexible endoscopy, are gaining popularity over the open surgical approach due the low morbidity, the fast recovery time and the fact that the procedure can be safely repeated. We provide an analysis of the the current status of minimally invasive endoscopic management of Zenker diverticulum. PMID:25685264

  17. Perforated jejunal diverticulum: a rare case of acute abdomen

    PubMed Central

    Sehgal, Rishabh; Cheung, Cherry X.; Hills, Tristram; Waris, Aqueel; Healy, Donagh; Khan, Tahir

    2016-01-01

    Jejunal pseudo-diverticulosis is a rare acquired herniation of the mucosa and submucosa through weakened areas of the muscularis mucosa of the mesenteric aspect of the bowel. They are asymptomatic in the majority of cases; however, they can present with a wide spectrum of non-specific symptoms such as chronic abdominal discomfort, postprandial flatulence, diarrhoea, malabsorption and steattorhoea. In up to 15% of cases, more serious acute complications may arise such as the development of intestinal obstruction, haemorrhage or as in our case, localized peritonitis secondary to perforation. Perforation carries an overall mortality rate of up to 40% and exploratory laparotomy followed by copious lavage with segmental resection and primary anastomosis remains the mainstay of managing such sequalae of jejunal pseudo-diverticulosis. Our case report highlights the importance of maintaining a high clinical suspicion of a perforated jejunal diverticulum in an elderly patient presenting with an acute abdomen. PMID:27765806

  18. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation.

    PubMed

    Sepulveda, W; Sebire, N J; Souka, A; Snijders, R J; Nicolaides, K H

    1997-02-01

    Our purpose was to examine the feasibility of diagnosing the Meckel-Gruber syndrome at 11 to 14 weeks' gestation, both in high-risk pregnancies and during routine ultrasonographic screening for fetal chromosomal abnormalities. The high-risk population consisted of 9 pregnancies in 7 women with previous pregnancies affected by the Meckel-Gruber syndrome. At 11 to 14 weeks' gestation, systematic ultrasonographic examinations of the fetal skull, brain, kidneys, bladder, hands, and feet were undertaken in each case. The low-risk population consisted of 21,477 self-referred pregnancies undergoing first-trimester ultrasonographic screening for chromosomal defects at 11 to 14 weeks' gestation. The triad of fetal occipital encephalocele, bilateral polycystic kidneys, and postaxial polydactyly was detected by transabdominal ultrasonography and confirmed by transvaginal scanning in 4 of the 9 pregnancies in the high-risk group. The parents were counseled of the likely recurrence of the Meckel-Gruber syndrome, and all elected to terminate the pregnancy by transcervical evacuation at 12 to 13 weeks. In the low-risk population the only case of Meckel-Gruber syndrome was identified at 13 weeks; in the remaining screened pregnancies there were no other cases of termination of pregnancy or neonatal death with the diagnosis of Meckel-Gruber syndrome. This report demonstrates that the Meckel-Gruber syndrome can be confidently detected at the 11- to 14-week scan in both high- and low-risk populations.

  19. [Paratrigeminal epidermoid originated in the meckel's cave (author's transl)].

    PubMed

    Miyasaka, Y; Morii, S; Tachibana, S; Saito, T; Ohwada, T

    1976-05-01

    We have reported a case of paratrigeminal epidermoid originated in the Meckel's cave. A 30 years old man was admitted to the department of neurosurgery with chief complaints of continuous right facial pain and numbness of entire right side of the face of three years duration. The positive neurological findings were hypesthesia over the distribution of the right trigeminal nerve, absence of the right corneal reflex and nystagmus on left lateral gaze. Caloric response was absent on the right side, however the audiogram showed normal. Cerebrospinal fluid examination was within normal limit. Electromyography showed giant spike in the right masseter and temporal muscles. Radiogram of the skull revealed a bone-destroying lesion over the medial florr of the right middle fossa involving the apex of the petrous bone (Fig 1). Right carotid angiography showed straightening and forward displacement of C4- C5 portion of the carotid siphon in the lateral view, and vertebral angiography showed displacement of basilar artery to the left side, upward displacement of the right posterior cerebral and superior cerebellar artery in the frontal view (Fig. 2, 3). At the time of operation, an epidermoid was identified in the Meckel's cave and totally removed microsurgically. Small amount of the tumor extending into the posterior fossa was also removed (Fig. 4, 5, 6, 7). Postoperative course was uneventfull except for an episode of headache and high fever of short duration, suggesting the signs of meningial irritation. Two months postoperativelly patient was relived of facial pain and was discharged with sensory impairment of the right trigeminal nerve distribution. Only 11 cases of paratrigeminal epidermoid, including the cases localized in the Meckel's cave have been reported in the past literatures (Table 1). In this paper we have discussed about the symptomatology and clinical data of paratrigeminal epidermoid and compared with those of trigeminal neurinoma, and meningioma originated

  20. Prenatal diagnosis of Meckel-Gruber syndrome case reports.

    PubMed

    Su, S L; Liu, C M; Lee, J N

    1995-02-01

    Two cases of Meckel-Gruber syndrome are presented. In the first case, abdominal tumor and decreased amniotic fluid were initially suspected. In the second case, Omphalocele was diagnosed by local practitioners. Thorough obstetric sonographic studies revealed encephalocele, bilateral renal cystic dysplasia, polydactyly, microcephalus, intrauterine growth retardation (IUGR) and oligohydramnios. Chromosomal analysis by percutaneous umbilical cord blood sampling (PUBS) was normal with 46,XY in Case 1 and 46,XX in Case 2. The prenatal diagnoses were confirmed by autopsy. The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly. It is interesting to note that the two cases came from two different families without any family history of inherited disease.

  1. Mutations in TMEM231 cause Meckel-Gruber syndrome.

    PubMed

    Shaheen, Ranad; Ansari, Shinu; Mardawi, Elham Al; Alshammari, Muneera J; Alkuraya, Fowzan S

    2013-03-01

    Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease. To report genetic analysis results in two families in which all known MKS diseases genes have been excluded. In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration. We identified one novel splicing mutation in TMEM231, which led to complete degradation of the mutant transcript in one family, and a novel missense mutation in the other, both in the homozygous state. TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies.

  2. Meckel-Gruber Syndrome with unilateral renal agenesis.

    PubMed

    Uysal, Fatma; Uysal, Ahmet

    2015-04-01

    Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilateral renal agenesis was reported only once until now. Here, we describe a case of 26-year primigravida with 23 weeks pregnancy whose detailed sonographical examination of the fetus revealed large encephalocele through the posterior fontanelle microcephaly, anhydramnios, unilateral left enlarged polycystic kidney and right sided renal agenesis. The pregnancy was wilfully terminated on medical grounds. Risk for subsequent pregnancies was explained to the parents.

  3. Meningioma involving Meckel's cave: transpetrosal surgical anatomy and clinical considerations.

    PubMed

    Choo, Daniel I; Steward, David L; Pensak, Myles L

    2002-09-01

    Meningiomas originating in Meckel's cave (MC) are uncommon lesions that represent 1% of all intracranial meningiomas. Innovations in skull base surgery have enabled resection of these lesions with less morbidity, but require an intimate knowledge of both lesional pathology and regional microneuroanatomy. To review the surgical and clinical considerations involved in the management of MC meningiomas, we retrospectively reviewed data from patients who underwent transpetrosal resection of primary MC meningiomas between 1984 and 1998. Of 146 patients who underwent transpetrosal removal of meningiomas, 7 were believed to have tumors originating in MC. All 7 patients presented with trigeminal dysfunction, facial pain, and/or headache. Complete tumor removal was achieved in 5 of the 7 patients. Facial hypoesthesia or anesthesia, paralysis of cranial nerve VI, and ophthalmoplegia were among the postoperative complications encountered. Meningiomas of MC represent treatable lesions whose diagnosis requires prompt imaging of patients with trigeminal dysfunction and symptoms of facial pain and headache.

  4. Fate of Meckel's cartilage chondrocytes in ocular culture

    SciTech Connect

    Richman, J.M.; Diewert, V.M.

    1988-09-01

    Modulation of the chondrocyte phenotype was observed in an organ culture system using Meckel's cartilage. First branchial arch cartilage was dissected from fetal rats of 16- and 17-day gestation. Perichondrium was mechanically removed, cartilage was split at the rostral process, and each half was grafted into the anterior chamber of an adult rat eye. The observed pattern of development in nonirradiated specimens was the following: hypertrophy of the rostral process and endochondral-type ossification, fibrous atrophy in the midsection, and mineralization of the malleus and incus. A change in matrix composition of the implanted cartilage was demonstrated with immunofluorescence staining for cartilage-specific proteoglycan (CSPG). After 15 days of culture, CSPG was found in the auricular process but not in the midsection or rostral process. In order to mark the implanted cells and follow their fate, cartilage was labeled in vitro with (3H)thymidine (3H)TdR). Immediately after labeling 20% of the chondrocytes contained (3H)TdR. After culturing for 5 days, 20% of the chondrocytes were still labeled and 10% of the osteogenic cells also contained radioactive label. The labeling index decreased in both cell types with increased duration of culture. Multinucleated clast-type cells did not contain label. Additional cartilages not labeled with (3H)TdR were exposed to between 20000 and 6000 rad of gamma irradiation before ocular implantation. Irradiated cartilage did not hypertrophy or form bone but a fibrous region developed in the midsection. Cells of the host animal were not induced to form bone around the irradiated cartilage. Our studies suggest that fully differentiated chondrocytes of Meckel's cartilage have the capacity to become osteocytes, osteoblasts, and fibroblasts.

  5. Importance of malnutrition and associated diseases in the management of Zenker's diverticulum.

    PubMed

    Boucher, S; Breheret, R; Laccourreye, L

    2015-06-01

    To study the impact of malnutrition on a population treated for Zenker's diverticulum and to look for the causes of persistence or recurrence of dysphagia after endoscopic surgery. This retrospective study included 30 patients with Zenker's diverticulum treated by endoscopy. All swallowing disorders and manifestations of malnutrition and postoperative improvement in and/or recurrence of symptoms were noted. Nutritional status was evaluated for 26 patients. Before surgery, 54% suffered from malnutrition, which was severe in 31%; 28.6% of the cases with malnutrition showed postoperative complications, versus 8.3% of cases without baseline malnutrition. Ninety percent of patients (n=27) declared complete resolution of symptoms. Nine patients presented recurrence of dysphagia, including 6 with recurrence of Zenker's diverticulum and 3 with, respectively, inclusion body myopathy, esophageal hypertonia and central disease. Malnutrition should be quantified and treated before and after surgery for Zenker's diverticulum to prevent complications and decrease mortality. Associated pathologies should be systematically screened for, especially in case of recurrence of swallowing disorder without recurrence of Zenker's diverticulum. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  6. A giant colonic diverticulum presenting as a 'phantom mass': a case report

    PubMed Central

    2009-01-01

    Introduction Diverticulosis coli is the most common disease of the colon in Western countries. Giant colonic diverticulum, defined as a colonic diverticulum measuring 4 cm in size or larger, represents an unusual manifestation of this common clinical entity. Case presentation A 68-year-old Caucasian British woman with a history of intermittent lower abdominal mass, leg swelling and focal neurological symptoms underwent extensive non-diagnostic investigations over a significant period under a number of disciplines. The reason for a diagnosis being elusive in part related to the fact that the mass was never found on clinical and ultrasound examination. As a result, the patient's validity was questioned. Ultimately, this 'phantom-mass' was diagnosed as a giant colonic diverticulum causing intermittent compression of the iliac vein and obturator nerve. Conclusion Intermittent compression of the iliac vein and the obturator nerve by a colonic diverticulum has not previously been reported. A giant colonic diverticulum presenting as an intermittent mass is very rare. This case also illustrates two factors. First, the patient is often right. Second, the optimal mode of investigation for any proven or described abdominal mass with referred symptoms is cross-sectional imaging, typically a computed tomography scan, irrespective whether the mass or symptoms are constant or intermittent. PMID:19173728

  7. [Urethral diverticulum. Our casuistic and the literatura review].

    PubMed

    Ramírez Backhaus, M; Trassierra Villa, M; Broseta Rico, E; Gimeno Argente, V; Arlandis Guzmán, S; Alonso Gorrea, M; Jiménez Cruz, J F

    2007-09-01

    The possible etiopathogenic factors, symptoms, diagnostic methods, surgical management and complications of the urethral diverticula are reviewed. A retrospective study of the clinical charts with urethral diverticula diagnosis during the period 1986-2006 was carried out. In the last 20 years a total of 19 patients have been treated for this pathology: 15 females and 4 males. Five of the females started with a sensation of vaginal mass; the rest were diagnosed of micturitional (irritative) syndrome, urinary incontinence or urinary infection. In the case of males, 3 of them had a palpable tumour in the penis. The most used diagnostic method was retrograde and voiding cystourethrography; urethrography with double-occlusion balloon catheter was used in 5 cases and urethroscopy in 4 patients; other techniques of image diagnosis like magnetic resonance imaging were necessary for the most complex cases. The treatment was the excision of the diverticulum, except for one of the females who rejected the treatment. The evolution in all treated women was successful, according to follow up 2 years after the treatment. In males, two of them had complex recurrent diverticula. Urethral diverticula are nosologic entities of difficult diagnosis, due to their low prevalence and their unspecific clinic, therefore diagnosis is sometimes incidental. The etiopathogenity is acquired in most cases and its surgical treatment is more challenging in males than in females probably linked to the fact that diverticula appear in urethras with previous surgery, endourologic manipulation or associated injuries.

  8. An unusual-appearing suburethral diverticulum resulting from trauma: a case report.

    PubMed

    Schneider, Erika; Sims, Shireen Madani; Davis, John D

    2014-01-01

    A suburethral diverticulum is a herniation of the urethra into the potential space between the anterior vaginal wall and the periurethral fascia. We report a case of an unusual-appearing suburethral diverticulum that resulted from repetitive self-induced trauma. A 43-year-old, mentally handicapped woman presented to our clinic for evaluation of a papillary mass projecting from her anterior vaginal wall. Her caretakers reported that the woman traumatized herself periodically to induce vaginal bleeding. After evaluation the mass was excised in the operating room, and the diagnosis of a suburethral diverticulum was confirmed. Self-induced trauma as an etiology of suburethral diverticula should be considered in patients with atypical-appearing masses of the anterior vaginal wall.

  9. Calyceal Diverticulum of the Kidney – Diagnostic Imaging Dilemma in Pediatric Patients – Case Report

    PubMed Central

    Bombiński, Przemysław; Warchoł, Stanisław; Brzewski, Michał; Biejat, Agnieszka; Dudek-Warchoł, Teresa; Krzemień, Grażyna; Szmigielska, Agnieszka; Toth, Krzysztof

    2015-01-01

    Summary Background Calyceal diverticula are rarely diagnosed in children. They can mimic other renal cystic lesions and correct diagnosis can be difficult to establish. Connection between fluid collection and collecting system confirmed by imaging studies is the key diagnostic finding. Case Report In this report we present a case of pediatric patient with calyceal diverticulum, with initial ultrasonographic diagnosis of simple renal cyst. Final diagnosis was established after extended diagnostics following infection of a fluid collection. Conclusions 1. Differential diagnosis of well-circumscribed solitary renal fluid collections in children should include particularly: simple cyst, calyceal diverticulum and the first demonstration of ADPKD. 2. Diagnosis of calyceal diverticulum should be confirmed by contrast studies. 3. Standard management of calyceal diverticula in children includes ultrasonographic follow-up and conservative treatment and rarely requires surgical intervention. PMID:25610511

  10. Robotic partial nephrectomy for caliceal diverticulum: a single-center case series.

    PubMed

    Akca, Oktay; Zargar, Homayoun; Autorino, Riccardo; Brandao, Luis Felipe; Laydner, Humberto; Samarasekera, Dinesh; Krishnan, Jayram; Noble, Mark; Haber, George-Pascal; Kaouk, Jihad H; Stein, Robert J

    2014-08-01

    The aim of this study is to examine the role of robotic partial nephrectomy (RPN) in the management of caliceal diverticula by assessing our single-center outcomes. Between July 2007 and July 2013, 7 of 670 patients underwent RPN procedures as a reason of caliceal diverticula. The indications for RPN in all cases were recurrent urinary tract infection and pain attributed to the diverticulum in addition to failed management by endourologic or extracorporeal shockwave lithotripsy (SWL) treatments. One patient with a calcified diverticulum and another with an unsuccessful SWL treatment underwent RPN without further endourologic intervention. The other five patients had a history of unsuccessful percutaneous nephrolithotomy (one case), ureteroscopy (URS) (two cases), and a combination of SWL+URS (two cases). No intraoperative or postoperative complications were observed. No patient was readmitted postoperatively. Unique features of the robotic platform facilitate the excision of diverticulum and subsequent kidney reconstruction for this benign, but complex pathology.

  11. Neonatal repair of left atrial diverticulum with gigantic thrombus without cardiopulmonary bypass.

    PubMed

    Higashida, Akihiko; Hoashi, Takaya; Sakaguchi, Heima; Ichikawa, Hajime

    2017-04-08

    A 5-day-old neonate with coarctation of the aorta, hypoplastic aortic arch, large apical muscular ventricular septal defect, and patent ductus arteriosus developed pulmonary over-circulation and systemic hypoperfusion underwent bilateral pulmonary artery banding through median sternotomy as a part of hybrid stage I palliation. At operation, left atrial diverticulum with gigantic thrombus formation at the base of the left atrial appendage was incidentally detected by intraoperative direct echocardiography, and therefore, was successfully resected with the whole thrombus inside it without use of cardiopulmonary bypass. Histopathological finding was compatible with diverticulum. The patient was free from atrial arrhythmia and recurrent thrombus formation.

  12. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    PubMed

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  13. [Cranio-orbital zygomatic extradural approach for cavernous sinus or Meckel's cave tumors].

    PubMed

    Kinjo, T; Mukawa, J; Mekaru, S; Koga, H

    1996-06-01

    Direct surgery to cavernous sinus (CS) lesions has become one of the optimal treatments based on advancement in microsurgical anatomy and imaging modality, and the progress of microsurgical techniques. We have removed the CS or Meckel's cave tumors extradurally when they do not extend intradurally, using modified Al-Mefty's cranio-orbital zygomatic craniotomy. Three CS tumors; trigeminal neurofibroma, squamous cell carcinoma and chondrosarcoma, and a Meckel's cave meningioma were reported. Total removal was achieved in all but one (case 4). Postoperative complications were permanent ophthalmoplegia in one, transient ophthalmoplegia in one, subcutaneous CSF accumulation in two and trigeminal dysfunction in one. The extradural approach can be the first choice of methods for total removal of tumors when they are confined to the CS or Meckel's cave.

  14. Metastatic involvement of the Meckel's cave and trigeminal nerve. A case report.

    PubMed

    Mastronardi, L; Lunardi, P; Osman Farah, J; Puzzilli, F

    1997-03-01

    The case of a patient with a right atypical trigeminal neuralgia caused by a metastatic tumor involving the Meckel's cave is reported. His medical history was significant for colon-rectal adenocarcinoma. The preoperative diagnosis of Meckel's cave neoplasm was made by MR. The patient underwent surgery, consisting of total removal of tumor and peeling of the ganglion and of the branches of the nerve, obtaining a histological diagnosis and a resolution of pain. The clinical, radiological findings and the treatment of this rare entity are discussed.

  15. [Primary Meckel's cave lymphoma. A case and review of the literature].

    PubMed

    Artico, M; Salvati, M; Raco, A; Innocenzi, G; Delfini, R

    1992-01-01

    A rare case of Meckel's cavity lymphoma is presented. Only two other cases of identical localization have been presented in the literature. The symptoms consisted of sensorimotor impairment of the Vth nerve associated with slight exophthalmos. C.T. scan showed a hyperdense lesion in Meckel's cavity. After total surgical removal, histological analysis diagnosed a B-lymphocyte non-Hodgkin's lymphoma. The patient received both radiotherapy and chemotherapy and at one year follow up, the clinical course was good. The lesion had no clinical or radiological specificity. Its prognosis appears to be identical to that of other intracranial lymphomas.

  16. Image-Guided Endoscopic Endonasal Transmaxillary Transpterygoid Approach to Meckel's Cave.

    PubMed

    Wang, Xuejian; Zhang, Xiaobiao; Hu, Fan; Yu, Yong; Gu, Ye; Xie, Tao; Ge, Junqi

    2016-01-01

    The aim of this report was to summarize our preliminary experience on the resection of tumors located in Meckel's cave via the endoscopic endonasal transmaxillary transpterygoid approach with image-guided system and to investigate the feasibility and efficacy of this approach. Two patients who had tumors in left Meckel's cave underwent surgical treatment using the image-guided endoscopic endonasal transmaxillary transpterygoid approach. This particular technique has advantages of no brain retraction, direct vision of tumor resection and protection of surrounding neurovascular structures. Neuronavigation increases the safety of the endoscopic approach.

  17. Are Online Zenker's Diverticulum Materials Readable and Understandable?

    PubMed

    Balakrishnan, Vini; Chandy, Zachariah; Verma, Sunil P

    2016-11-01

    Patients use a multitude of resources to learn about Zenker's diverticulum (ZD). The objectives of this study were to assess the readability and understandability of online materials on ZD, evaluate them against the existing criteria, and investigate the relationship between readability and understandability. The first 50 webpages from an online search for ZD were analyzed. Twenty-one webpages had materials intended for patients and were included in the study. The patient education materials (PEMs) were analyzed using 6 readability tools. Four individuals used the Patient Education Materials Evaluation Tool (PEMAT) to assess the understandability. Fleiss κ interrater reliability analysis determined consistency among the raters. Finally, Pearson correlation coefficient analyzed the relationship between readability and understandability. The reading grade level of the materials reviewed ranged from 10th to 16th grade while the understandability ranged from 31% to 74%. Correlation analysis demonstrated a strong negative correlation between readability and understandability (r = -0.62, P < .05). Fleiss' κ interrater reliability for the raters demonstrated substantial agreement between the 4 raters (κ = 0.64). Online PEMs pertaining to ZD are written well above the recommended reading level. Materials written at a lower reading level are more understandable. A wide range of understandability exists among materials with identical reading grade levels. Health care providers need to create new PEMs for ZD that are available online that are both readable and understandable. The PEMAT and readability formulas can provide a framework for authors to create these materials. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

  18. Meckel-Grüber syndrome: sonography and pathology.

    PubMed

    Ickowicz, V; Eurin, D; Maugey-Laulom, B; Didier, F; Garel, C; Gubler, M C; Laquerrière, A; Avni, E F

    2006-03-01

    To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS). This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up. Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts. The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters. 2006 ISUOG. Published by John Wiley & Sons, Ltd.

  19. A mouse model for Meckel syndrome type 3.

    PubMed

    Cook, Susan A; Collin, Gayle B; Bronson, Roderick T; Naggert, Jürgen K; Liu, Dong P; Akeson, Ellen C; Davisson, Muriel T

    2009-04-01

    Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies). The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67, also called meckelin (OMIM 609884), which is an integral protein of the renal epithelial cell and membrane of the primary cilium. Here, we describe a spontaneous deletion of the mouse ortholog, Tmem67, which results in polycystic kidney disease and death by 3 wk after birth. Hydrocephalus also occurs in some mutants. We verified the mutated gene by transgenic rescue and characterized the phenotype with microcomputed tomography, histology, scanning electron microscopy, and immunohistochemistry. This mutant provides a mouse model for MKS3 and adds to the growing set of mammalian models essential for studying the role of the primary cilium in kidney function.

  20. Meckel-gruber syndrome associated with gastrointestinal tractus anomaly.

    PubMed

    Ergür, Ayça Törel; Taş, Fikret; Yildiz, Esin; Kiliç, Fikriye; Sezgin, Ilhan

    2004-01-01

    Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives. It was learned that the patient's two sisters had died from similar anomalies. In our case, prenatal sonographic examination revealed oligohydramnios and hydrocephaly in the 33rd week of gestation. At birth her weight was 2200 g. Both physical and radiological examinations diagnosed MGS. Cranial computed tomography (CT) showed agenesis of cerebellar vermis and corpus callosum, and cystic dilatation of the 4th ventricle and lateral ventricles. The case died due to severe respiratory distress in the Intensive Care Unit on day 38. In the postmortem examination, longitudinally located intestine-like stomach was determined without a fundus. In conclusion, intestinal malrotation and hepatic portal fibrosis have been reported in MGS in the literature. In this case, a longitudinally located intestine-like stomach in MGS is reported for the first time. No such association to our knowledge has been previously reported.

  1. Intradural chordoma of the Meckel's cave: a challenging differential diagnosis.

    PubMed

    Barresi, Valeria; Caffo, Maria; Alafaci, Concetta; Granata, Francesca; Tuccari, Giovanni

    2012-10-01

    Chordomas are midline tumors that arise from embryonic remnants of the notochord and are considered to be malignant tumors because of their tendency to invade and destroy the involved bone. Cases of intradural chordomas without bone involvement have been rarely described with a predilection for prepontine location. The absence of bony invasion renders the complete excision of these tumors more feasible and is related to their better prognosis in comparison to conventional chordomas. Herein we report the first intradural chordoma arising in the Meckel's cave. The intradural location of the lesion, outside midline structures, in the absence of bone infiltration, made the differential diagnosis versus other meningeal lesions such as chordoid meningioma challenging. The intense and strong immunohistochemical expression of pan-cytokeratins, S100, cytokeratin-19 and of the notochordal marker brachyury allowed differential diagnosis toward other tumors showing chordoid morphology. The expression of brachyury, which had not been previously analyzed in intradural chordoma, definitely links the histogenesis of this neoplasia to the notochord, similar to that of conventional chordoma. We also show that, different from conventional chordoma, intradural chordoma does not express the metallo-proteinases (MMPs) -2 and -9, which may account for its indolent biological behavior.

  2. Meningeal melanocytoma of Meckel's cave associated with ipsilateral Ota's nevus.

    PubMed

    Botticelli, A R; Villani, M; Angiari, P; Peserico, L

    1983-06-15

    A case of meningeal melanocytoma of the left Meckel's cave associated with ipsilateral Ota's nevus in a 43-year-old woman, was studied by light and electron microscopy. The cells of the tumor were characterized by the presence of dendritic cytoplasmic processes, melanosomes and premelanosomes; hence, they were deemed as neoplastic melanocytes. Moreover, the tumor was lacking in histologic and ultrastructural features of pigmented meningioma, melanotic Schwannoma and primary meningeal melanoma. The prolonged clinical course was different from primary and metastatic malignant melanomas of the meninges. The best treatment appears to be radical excision, when possible; otherwise, the local or partial enucleation followed by radiation therapy has been found to be the best curative to date. On the whole, meningeal melanocytoma cannot be considered as entirely benign, given its morphologic patterns that resemble those of uveal melanoma, and its potential for recurrence. The association of this tumor with Ota's nevus is referred to as having a common origin from an arrested migration of melanoblasts at different stages.

  3. A RARE CASE OF SQUAMOUS CELL CARCINOMA IN URINARY BLADDER DIVERTICULUM SUCCESSFULLY TREATED BY BLADDER-SPARING SURGERY.

    PubMed

    Štimac, Goran; Knežević, Matej; Grubišić, Igor; Soipi, Soip; Tomas, Davor; Krušlin, Božo

    2015-09-01

    The aim is to report a rare case of squamous cell carcinoma arising in a urinary bladder diverticulum and present recent literature overview of treatment options. A 56-year-old man presented with intermittent hematuria. Ultrasound examination indicated primary carcinoma in the urinary bladder diverticulum. Diagnosis was confirmed with cystoscopy and computed tomography. Transvesical diverticulectomy with regional lymphadenectomy was undertaken. Two years after initial treatment, the patient was well without evidence of tumor relapse. This report implicates that although aggressive surgical approach is recommended in the majority of bladder diverticulum tumors, simple diverticulectomy may be indicated in selected, confined cases.

  4. Prenatal Diagnosis of Cardiac Diverticulum with Pericardial Effusion in the First Trimester of Pregnancy with Resolution after Early Pericardiocentesis

    PubMed Central

    Garcia Rodriguez, Raquel; Rodriguez Guedes, Azahara; Garcia Delgado, Raquel; Roldan Gutierrez, Lourdes; Medina Castellano, Margarita; Garcia Hernandez, Jose Angel

    2015-01-01

    Cardiac diverticulum is a rare anomaly, which may present in association with pericardial effusion. Only few cases diagnosed during fetal life have been published and only in 12 cases pericardiocentesis was made with good postnatal outcomes in 83% of the cases. In the first trimester of pregnancy only 6 cases were reported. We described the largest series of cases published. We describe a case of cardiac diverticulum complicated with pericardial effusion during the first trimester of pregnancy and resolved by intrauterine pericardiocentesis at 17 weeks of pregnancy. We made a systematic review of the literature with the cases reported of cardiac diverticulum, management, and outcomes. PMID:26558121

  5. A rare nosological entity: the perforated solitary cecal diverticulum. Research article.

    PubMed

    Boselli, Carlo; Burini, Gloria; Covarelli, Piero; Barberini, Francesco; Gemini, Alessandro; Castellani, Elisa; Noya, Giuseppe; Cirocchi, Roberto

    2014-01-01

    To describe three cases of solitary cecal diverticulum, and trying to evaluate the better method of diagnosis and treatment with analysis of the literature. Description of three cases of solitary cecal diverticulum's perforation admitted in the Department of General and Oncologic Surgery, Santa Maria della Misericordia Hospital, Perugia, during the period January 2011 - January 2012. In all patients the clinical presentation was very similar to that of acute appendicitis. Preoperative diagnosis was achieved in one case through abdominal CT scan, other two cases were identified at final pathology. At one year from the treatment all patient are still alive. Cecal diverticulum is a rare condition, often diagnosed either casually or because of inflammatory or perforative complications. The highest incidence is found in Western population. Because of the clinical presentation, very similar to the appendicitis, and the inflammatory reaction involving the colon and its surrounding tissues, the pre- and intra-operative diagnosis are very difficult. The diagnosis is almost always histological. The treatment may vary from simple expectant medical management, carried out with bowel rest, parenteral support and antibiotics as for left-sided diverticulitis, to surgical approach, performed through simple diverticulectomy or by classical right hemicolectomy. Pre-surgical and, also intra-operative, diagnosis of perforated solitary cecal diverticulum is clearly difficult. CT scan represents the gold standard for the differential diagnosis. Right hemicolectomy is an effective and safe approach, allowing accurate control, preventing complications and recurrences, and it represents the optimal management of the disease.

  6. [Acute retention of urine secondary to a congenital diverticulum of the bladder].

    PubMed

    Azahouani, A; Hida, M; Lasseri, A; Lahfaoui, M; Zaari, N; Belahcen, M; Elazzouzi, D; Benhaddou, H

    2016-10-01

    Bladder diverticula in children are mostly congenital, frequently associated with vesicoureteral reflux. Their positive diagnosis is based primarily on retrograde urethrocystography. One complication of this condition is acute urinary retention. We report the case of a 4-month-old infant who presented acute retention of urine secondary to bilateral congenital bladder diverticulum and review the literature on this subject.

  7. An extremely rare case of symptomatic right hepatic duct diverticulum located outside the liver.

    PubMed

    Kaneyama, Kazuhiro; Yamataka, Atsuyuki; Urao, Masahiko; Kobayashi, Hiroyuki; Lane, Geoffrey J; Miyano, Takeshi

    2005-12-01

    Symptomatic hepatic duct diverticulum located outside the liver is extremely rare, with only one reported case. We encountered this anomaly and present our experience, focusing on surgical management. A 17-year-old-girl was referred to our institute because of recurrent right upper quadrant pain. At presentation, serum amylase, lipase, bilirubin, and transaminases were normal. White blood cell count and C-reactive protein were slightly raised. Ultrasonography and magnetic resonance cholangiopancreatography (MRCP) revealed a diverticulum-like lesion on the right side of the bile duct system appearing to overlap the gallbladder. The provisional diagnosis was type II choledochal cyst. Pancreaticobiliary malunion (PBMU) could not be confirmed on MRCP. The origin of the lesion could not be identified initially at laparotomy, but after repeated intraoperative cholangiography (IC) studies, the lesion was found to originate from a normal-sized right hepatic duct via a narrow duct. It was relatively easy to ligate the narrow duct and treat the lesion smoothly. IC also showed that the common bile duct was not dilated and that PBMU was absent. Histopathology showed the lesion to be a diverticulum of the bile duct epithelium. This is only the second report of a symptomatic hepatic duct diverticulum located outside the liver. Based on our experience, IC is particularly useful for the complete understanding of anomalous hepatobiliary duct anatomy and for planning surgical treatment.

  8. Features described and illustrated in 1684 suggesting Meckel-Gruber syndrome.

    PubMed

    Kompanje, Erwin J O

    2003-01-01

    In 1684, Mr. Christopher Krahe described a monstrous child, born in Denmark on Friday, February 29, 1684. The description is suggestive of a diagnosis of Meckel-Gruber syndrome (dysencephalia splanchnocystica). This may represent the oldest description and illustration of the syndrome, of which the first detailed description is attributed to Johann Friedrich der Jüngere in 1822.

  9. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

    PubMed

    Celentano, Claudio; Prefumo, Federico; Liberati, Marco; Gallo, Giuseppina; Di Nisio, Quirino; Rotmensch, Sigfried

    2006-06-01

    The association of occipital encephalocele, cleft palate, postaxial polydactyly, polycystic kidneys, and hepatic cysts is well known as Meckel-Gruber syndrome (MGS). Nowadays, the diagnosis of MGS is usually performed prenatally by ultrasound findings. MGS was previously described following in vitro fertilization. We report a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intra-cytoplasmic sperm injection (ICSI).

  10. Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects.

    PubMed

    de Silva, D; Suriyawansa, D; Mangalika, M; Samarasinghe, D

    2001-03-01

    Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with MGS affecting three infants.

  11. Roles of FGFR3 during morphogenesis of Meckel's cartilage and mandibular bones

    PubMed Central

    Havens, Bruce A.; Velonis, Dimitris; Kronenberg, Mark S.; Lichtler, Alex C.; Oliver, Bonnie; Mina, Mina

    2008-01-01

    To address the functions of FGFR2 and FGFR3 signaling during mandibular skeletogenesis, we over-expressed in the developing chick mandible, replication-competent retroviruses carrying truncated FGFR2c or FGFR3c that function as dominant negative receptors (RCAS-dnFGFR2 and RCAS-dnFGFR3). Injection of RCAS-dnFGFR3 between HH15−20 led to reduced proliferation, increased apoptosis, and decreased differentiation of chondroblasts in Meckel's cartilage. These changes resulted in the formation of a hypoplastic mandibular process and truncated Meckel's cartilage. This treatment also affected the proliferation and survival of osteoprogenitor cells in osteogenic condensations, leading to the absence of five mandibular bones on the injected side. Injection of RCAS-dnFGFR2 between HH15−20 or RCAS-dnFGFR3 at HH26 did not affect the morphogenesis of Meckel's cartilage but resulted in truncations of the mandibular bones. RCAS-dnFGFR3 affected the proliferation and survival of the cells within the periosteum and osteoblasts. Together these results demonstrate that FGFR3 signaling is required for the elongation of Meckel's cartilage and FGFR2 and FGFR3 have roles during intramembranous ossification of mandibular bones. PMID:18339367

  12. Spontaneous resolution of a Meckel's cave arachnoid cyst causing sixth cranial nerve palsy.

    PubMed

    Jacob, Maud; Gujar, Sachin; Trobe, Jonathan; Gandhi, Dheeraj

    2008-09-01

    A 32-year-old pregnant woman developed a progressive right sixth cranial nerve palsy as an isolated finding. Brain MRI disclosed a discrete lobulated lesion centered in the right Meckel's cave with intermediate signal on T1, high signal on T2, and diffusion characteristics similar to those of cerebrospinal fluid on apparent diffusion coefficient mapping. The initial radiologic diagnosis was schwannoma or meningioma. No intervention occurred. Shortly after cesarean delivery, the abduction deficit began to lessen spontaneously. One month later, the abduction deficit had further improved; 7 months later it had completely resolved. Repeat MRI after delivery failed to disclose the lesion, which was now interpreted as consistent with an arachnoid cyst arising within Meckel's cave. Twenty-one similar cases of Meckel's cave arachnoid cyst or meningocele have been reported, 7 found incidentally and 14 causing symptoms, 2 of which produced ipsilateral sixth cranial nerve palsies. All previously reported symptomatic patients were treated surgically. This is the first report of an arachnoid cyst arising from Meckel's cave in pregnancy and having spontaneous resolution.

  13. Pontine glioma extending to the ipsilateral cavernous sinus and Meckel's cave: MR appearance.

    PubMed

    Yuh, W T; Nguyen, H D; Mayr, N A; Follett, K A

    1992-01-01

    The authors describe an exophytic glioma of the pons that grew into the Meckel's cave and cavernous sinus in a 75-year-old man. Pontine gliomas should be included in the differential diagnosis of a hyperintense, complex cystic mass seen along the distribution of cranial nerve V.

  14. The endoscopic endonasal approach to the Meckel's cave tumors: surgical technique and indications.

    PubMed

    Jouanneau, Emmanuel; Simon, Emile; Jacquesson, Timothée; Sindou, Marc; Tringali, Stéphane; Messerer, Mahmoud; Berhouma, Moncef

    2014-12-01

    Many benign and malignant tumors as well as other inflammatory or vascular diseases may be located in the areas of Meckel's cave or the cavernous sinus. Except for typical features such as for meningiomas, imaging may not by itself be sufficient to choose the best therapeutic option. Thus, even though modern therapy (chemotherapy, radiotherapy, or radiosurgery) dramatically reduces the field of surgery in this challenging location, there is still some place for surgical biopsy or tumor removal in selected cases. Until recently, the microscopic subtemporal extradural approach with or without orbitozygomatic removal was classically used to approach Meckel's cave but with a non-negligible morbidity. Percutaneous biopsy using the Hartel technique has been developed for biopsy of such tumors but may fail in the case of firm tumors, and additionally it is not appropriate for anterior parasellar tumors. With the development of endoscopy, the endonasal route now represents an interesting alternative approach to Meckel's cave as well as the cavernous sinus. Through our experience, we describe the modus operandi and discuss what should be the appropriate indication of the use of the endonasal endoscopic approach for Meckel's cave disease in the armamentarium of the skull base surgeon.

  15. Comparative physical maps of the human and mouse Meckel syndrome critical regions.

    PubMed

    Hentges, Kathryn E; Kyttälä, Mira; Justice, Monica J; Peltonen, Leena

    2004-04-01

    Meckel syndrome (MKS-OMIM 24900) is an autosomal recessive disease characterized by cystic kidneys, occipital encephalocele, polydactyly, and fibrotic changes of the liver, typically resulting in postnatal death. A Meckel syndrome critical region (MKS1) maps to human Chromosome (Chr) 17, in a region of homology to mouse Chr 11. Here we report the comparison of human Chr 17q23 with mouse Chr 11. We have generated physical maps of the human and mouse MKS1 critical regions. Additionally, we have created a transcript map of the MKS1 critical region in both species. By comparing these physical maps, we observe a high degree of similarity in gene order in the human and mouse Meckel syndrome critical regions. We have also examined the expression patterns of genes in the MKS1 region to assess their potential as MKS1 candidates. Finally, we have analyzed genes present in the other Meckel syndrome critical regions, MKS2 and MKS3, to determine whether any of the candidate genes for the three MKS loci have similar gene functions or are members of a common biological pathway.

  16. Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

    SciTech Connect

    Mondel, Prabath Kumar Anand, Sunanda Limaye, Uday S.

    2015-08-15

    Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinical presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.

  17. Unraveling the genetics of Joubert and Meckel-Gruber syndromes

    PubMed Central

    Szymanska, Katarzyna; Hartill, Verity L.; Johnson, Colin A.

    2014-01-01

    Joubert syndrome (JBTS) and Meckel-Gruber syndrome (MKS) are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review, we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each other and other ciliopathies. Recent advances in genetic technology have significantly improved diagnosis and clinical management of ciliopathy patients, with the delineation of some general genotype-phenotype correlations. We highlight those that are most relevant for clinical practice, including the correlation between TMEM67 mutations and the JBTS variant phenotype of COACH syndrome. The subcellular localization of the known MKS and JBTS proteins is now well-described, and we discuss some of the contemporary ideas about ciliopathy disease pathogenesis. Most JBTS and MKS proteins localize to a discrete ciliary compartment called the transition zone, and act as structural components of the so-called “ciliary gate” to regulate the ciliary trafficking of cargo proteins or lipids. Cargo proteins include enzymes and transmembrane proteins that mediate intracellular signaling. The disruption of transition zone function may contribute to the ciliopathy phenotype by altering the composition of the ciliary membrane or axoneme, with impacts on essential developmental signaling including the Wnt and Shh pathways as well as the regulation of secondary messengers such as inositol-1,4,5-trisphosphate (InsP3) and cyclic adenosine monophosphate (cAMP). However, challenges remain in the interpretation of the pathogenic potential of genetic variants of unknown significance, and in the elucidation of the molecular mechanisms of phenotypic variability in JBTS and MKS. The further genetic and functional characterization of these conditions is essential to prioritize patients for new

  18. Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

    PubMed

    Szymanska, Katarzyna; Hartill, Verity L; Johnson, Colin A

    2014-11-05

    Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each other and other ciliopathies. Recent advances in genetic technology have significantly improved diagnosis and clinical management of ciliopathy patients, with the delineation of some general genotype-phenotype correlations. We highlight those that are most relevant for clinical practice, including the correlation between TMEM67 mutations and the JBTS variant phenotype of COACH syndrome. The subcellular localization of the known MKS and JBTS proteins is now well-described, and we discuss some of the contemporary ideas about ciliopathy disease pathogenesis. Most JBTS and MKS proteins localize to a discrete ciliary compartment called the transition zone (TZ), and act as structural components of the so-called "ciliary gate" to regulate the ciliary trafficking of cargo proteins or lipids. Cargo proteins include enzymes and transmembrane proteins that mediate intracellular signaling. The disruption of TZ function may contribute to the ciliopathy phenotype by altering the composition of the ciliary membrane or axoneme, with impacts on essential developmental signaling including the Wnt and Shh pathways as well as the regulation of secondary messengers such as inositol-1,4,5-trisphosphate (InsP3) and cAMP. However, challenges remain in the interpretation of the pathogenic potential of genetic variants of unknown significance, and in the elucidation of the molecular mechanisms of phenotypic variability in JBTS and MKS. The further genetic and functional characterization of these conditions is essential to prioritize patients for new targeted therapies.

  19. Meckel syndrome: genetics, perinatal findings, and differential diagnosis.

    PubMed

    Chen, Chih-Ping

    2007-03-01

    Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum alpha-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

  20. Single-port video-assisted thoracoscopic surgery for a huge epiphrenic esophageal diverticulum.

    PubMed

    Kang, Do Kyun

    2017-01-01

    Epiphrenic esophageal diverticulum is uncommon disease, which is defined as the herniation of the mucosa and submucosa through the muscle layers of the esophageal wall in distal third of the esophagus. Traditionally, thoracotomy has been the preferred surgical approach. Recently, many surgeons have attempted minimally invasive surgeries for epiphrenic esophageal diverticula. They reported that minimally invasive surgery (MIS) for epiphrenic esophageal diverticula was a safe and feasible approach which had many advantages. There are various options of surgical approaches for MIS of epiphrenic diverticula. However, the best surgical approach remains uncertain. We report the case of a huge epiphrenic esophageal diverticulum, which was successfully treated by single-port video-assisted thoracoscopic surgery (VATS).

  1. Single-port video-assisted thoracoscopic surgery for a huge epiphrenic esophageal diverticulum

    PubMed Central

    2017-01-01

    Epiphrenic esophageal diverticulum is uncommon disease, which is defined as the herniation of the mucosa and submucosa through the muscle layers of the esophageal wall in distal third of the esophagus. Traditionally, thoracotomy has been the preferred surgical approach. Recently, many surgeons have attempted minimally invasive surgeries for epiphrenic esophageal diverticula. They reported that minimally invasive surgery (MIS) for epiphrenic esophageal diverticula was a safe and feasible approach which had many advantages. There are various options of surgical approaches for MIS of epiphrenic diverticula. However, the best surgical approach remains uncertain. We report the case of a huge epiphrenic esophageal diverticulum, which was successfully treated by single-port video-assisted thoracoscopic surgery (VATS). PMID:28203430

  2. Infected tracheal diverticulum: a rare association with alpha-1 antitrypsin deficiency.

    PubMed

    Amaral, Cecília Beatriz Alves; Silva, Sónia; Feijó, Salvato

    2014-01-01

    Tracheal diverticulum, defined as a benign outpouching of the tracheal wall, is rarely diagnosed in clinical practice. It can be congenital or acquired in origin, and most cases are asymptomatic, typically being diagnosed postmortem. We report a case of a 69-year-old woman who was hospitalized after presenting with fever, fatigue, pleuritic chest pain, and a right neck mass complicated by dysphagia. Her medical history was significant: pulmonary emphysema (alpha-1 antitrypsin deficiency); bronchiectasis; and thyroidectomy. On physical examination, she presented diminished breath sounds and muffled heart sounds, with a systolic murmur. Laboratory tests revealed elevated inflammatory markers, a CT scan showed an air-filled, multilocular mass in the right tracheal wall, and magnetic resonance imaging confirmed the CT findings. Fiberoptic bronchoscopy failed to reveal any abnormalities. Nevertheless, the patient was diagnosed with tracheal diverticulum. The treatment approach was conservative, consisting mainly of antibiotics. After showing clinical improvement, the patient was discharged.

  3. Congenital anterior urethral diverticulum presenting as a scrotal mass in a two-year-old child

    PubMed Central

    Gürağaç, Ali; Irkilata, Hasan Cem; Yunusov, Nahit; Demirer, Zafer

    2016-01-01

    Here, we describe a case of congenital anterior urethral diverticulum (CAUD) in a two-year-old boy, who presented with right inguinoscrotal swelling that mimicked a spermatic cord cyst or hydrocele. Accurate diagnosis was made intraoperatively by retrograde urethrography. Open diverticulectomy and primary urethroplasty were performed for its management. The clinical presentation, diagnosis, and the management of this rare condition is discussed. PMID:28096926

  4. [Giant negative T waves in idiopathic apical diverticulum of the left ventricle in adults].

    PubMed

    Barboteu, M; Desnos, M; Hagège, A; Dufour, M; Chauvaud, S; Junes, G; Baleynaud, S; Bruneval, P; Guérot, C

    1995-10-01

    Left ventricular diverticula, congenital or acquired, with normal coronary arteries are rare. Apical diverticula are exceptionally rare in the adult. The authors present the clinical, paraclinical, anatomopathological pre- and postoperative data in a case of apical diverticulum of the left ventricle presenting with giant negative T waves. The differential diagnosis of these electrocardiographic changes is discussed, in particular apical cardiomyopathy, especially as the two conditions may be associated.

  5. Techniques and efficacy of flexible endoscopic therapy of Zenker’s diverticulum

    PubMed Central

    Perbtani, Yaseen; Suarez, Alejandro; Wagh, Mihir S

    2015-01-01

    Zenker’s diverticulum (ZD) is an abnormal hypopharyngeal pouch often presenting with dysphagia. Treatment is often sought with invasive surgical management of the diverticulum being the only mode of definitive therapy. Primarily done by an open transcervical approach in the past, nowadays treatment is usually provided by otolaryngologists using a less invasive trans-oral technique with a rigid endoscope. When first described, this method grew into acceptance quickly due to its similar efficacy and vastly improved safety profile compared to the open transcervical approach. However, the main limitation with this approach is that it may not be suitable for all patients. Nonetheless, progress in the field of natural orifice endoscopic surgery over the last 10-20 years has led to the increase in utilization of the flexible endoscope in the treatment of ZD. Primarily performed by interventional gastroenterologists, this approach overcomes the prior limitation of its surgical counterpart and allows adequate visualization of the diverticulum independent of the patient’s body habitus. Additionally, it may be performed without the use of general anesthesia and in an outpatient setting, thus further increasing the utility of this modality, especially in elderly patients with other comorbidities. Today, results in more than 600 patients have been described in various published case series using different techniques and devices demonstrating a high percentage of clinical symptom resolution with low rates of adverse events. In this article, we present our experience with flexible endoscopic therapy of Zenker’s diverticulum and highlight the endoscopic technique, outcomes and adverse events related to this minimally invasive modality. PMID:25789090

  6. Endoscopic treatment of Zenker’s diverticulum by carbon dioxide laser

    PubMed Central

    Peretti, G; Piazza, C; Del Bon, F; Cocco, D; De Benedetto, L; Mangili, S

    2010-01-01

    Summary The management of Zenker’s diverticulum remains controversial, as both external and endoscopic procedures are potentially associated with post-operative complications and risks. The endoscopic approach is based on cricopharyngeal myotomy or myectomy by laser, cautery or stapling. A retrospective chart review has been made from December 1994 to April 2009 of all patients with Zenker’s diverticulum treated by endoscopic cricopharyngeal myectomy using CO2 laser at the Department of Otorhinolaryngology – Head and Neck Surgery of the University of Brescia, Italy. Of the 28 patients (19 males, 9 females; mean age, 64 years; range, 46-95) scheduled for the trans-oral procedure, 27 (96%) were endoscopically treated. Diagnosis was based on the patient’s history, flexible fiberoptic examination of the larynx, hypopharynx, and oesophagus, and videofluoroscopy with barium. Exclusion criteria included severe medical co-morbidities, impossibility to endoscopically expose the diverticulum, and small (< 2 cm) or large (> 6 cm) diverticula. The endoscopic procedure was performed using a CO2 laser to section the cricopharyngeal muscle and remove the posterior part in order to obtain partial myectomy. Major complications occurred in 2 (7%) patients. No cases of recurrent nerve paralysis, pharyngo-cutaneous fistula, neck emphysema, post-operative bleeding, mediastinitis or aspiration pneumonia were observed in the present series. A swallow survey was obtained by telephone: 85% of patients reported improved swallowing (without symptoms in 11 and with moderate dysphagia in 7). Based on the present series, endoscopic CO2 laser cricopharyngeal myectomy for Zenker’s diverticulum can be considered an effective and safe procedure, with reduced hospitalization time and complication rate. PMID:20559466

  7. Inferior wall diverticulum of left ventricle coexisting with mental retardation and atrial septal defect.

    PubMed

    Liu, Henry; Zhou, Ting; Liu, Jiao; Tong, Yiru; Shanewise, Jack S

    2012-10-01

    We report a case of congenital inferior wall left ventricular diverticulum (LVD), atrial septal defect and mental retardation detected by intraoperative transesophageal echocardiography. The combination of three features strongly suggests that genetic factors play important role in the pathogenesis of the disorder. Most LVDs are asymptomatic. Echocardiographers and cardiac anesthesiologists should be aware of this anomaly, and include it in the differential diagnosis of abnormally shaped ventricular wall and seek other congenital abnormalities if LVD is detected.

  8. Perforated caecal diverticulum as a content of inguinal hernia - report of a rare case.

    PubMed

    Tantia, Om; Bandyopadhyay, Samik; Jain, Mayank; Sasmal, Prakash Kumar; Khanna, Shashi; Sen, Bimalendu

    2009-10-01

    A tablet induced perforation of a caecal diverticulum into a hernial sac is a rare happening. The report discusses the presentation and outcome of a patient with such an unusual disease. A 55-year-old man presented with features of irreducible right sided indirect inguinal hernia. A hard swelling near upper pole of right testis was noted. Scrotal ultrasound revealed a normal testis. At operation caecum and proximal ascending colon were found in the hernial sac with the caecum adherent to the testis. As caecal malignancy could not be ruled out and enbloc Rt Haemicolectomy with Rt orchidectomy was performed. The patient had an uneventful recovery. Pathological examination of the specimen revealed a perforated caecal diverticulum with presence of multiple tablets in its lumen invaginating the upper pole of right testis without any evidence of malignancy. Tablet induced perforation of a caecal diverticulum into a hernial sac is a rare clinical entity. If malignancy cannot be negated at operation, a right haemicolectomy is a safe and feasible option.

  9. Phytobezoar in a jejunal diverticulum as a cause of small bowel obstruction: a case report

    PubMed Central

    2011-01-01

    Introduction Phytobezoars are concretions of poorly digested fruit and vegetable fibers found in the alimentary tract. Previous gastric resection, gastrojejunostomy, or pyloroplasty predispose people to bezoar formation. Small-bowel bezoars normally come from the stomach, and primary small-bowel bezoars are very rare. They are seen only in patients with underlying small-bowel diseases such as diverticula, strictures, or tumors. Primary small-bowel bezoars almost always present as intestinal obstructions, although it is a very rare cause, being responsible for less than 3% of all small-bowel obstructions in one series. Jejunal diverticula are rare, with an incidence of less than 0.5%. They are usually asymptomatic pseudodiverticula of pulsion type, and complications are reported in 10% to 30% of patients. A phytobezoar in a jejunal diverticulum is an extremely rare presentation. Case presentation A 78-year-old Pakistani man presented to our clinic with small-bowel obstruction. Upon exploration, we found a primary small-bowel bezoar originating in a jejunal diverticulum and causing jejunal obstruction. Resection and anastomosis of the jejunal segment harboring the diverticulum was performed, and our patient had an uneventful recovery. Conclusion Primary small-bowel bezoars are very rare but must be kept in mind as a possible cause of small-bowel obstruction. PMID:21951579

  10. [A case of carcinoma arising in a diverticulum of the transverse colon].

    PubMed

    Nomi, Masako; Umemoto, Satoshi; Kikutake, Takashi; Hosaka, Seiji; Mase, Takahiro; Kawamoto, Shunji; Yoshida, Takahisa

    2014-11-01

    A 64 year-old woman presented with advanced, transverse colon cancer arising in the diverticulum. Tumor invasion extended beyond the serosa to the anal side of the colon. Anemia and fatigue progressed after 6 months of iron administration. The hemoglobin value was 5.3 g/dL and carcinoembryonic antigen (CEA) level was elevated to 44.2 ng/mL. A palpable and tender fist-sized mass was found in the right upper abdomen. Computed tomography (CT) revealed a low-density mass in the transverse colon invading beyond the serosa to the anal side of the colon. Right hemi-colectomy with lymph node dissection was performed. The resected specimen contained multiple diverticula including the one from which the tumor arose. Histological examination revealed a well-differentiated, tubular adenocarcinoma (UICC TNM T4bN0M0) arising in a transverse colon diverticulum. There has been no recurrence for 2 years. Colon cancer arising in a diverticulum may expand to the extra-serosa and easily invade to the adjacent organ. In such cases, malignancy should be considered.

  11. Urethral diverticulum in the female: a meta-analysis of modern series.

    PubMed

    Cameron, Anne P

    2016-04-01

    Urethral diverticula are a complex problem for the female pelvic surgeon. Given the rarity of the condition most published series are small and single institutional. This is a review article and a meta-analysis including all case series of female urethral diverticulum from the year 2000 to 2015 including only those case series with a minimum of ten subjects. Twenty-five articles were included and data was sufficient to perform a meta-analysis on patient age, symptoms at presentation, physical exam findings, location of diverticulum, diverticular size, radiological findings, pathology, complications, and recurrence rates. Urethral diverticulum have variable symptom presentation and can mimic many other common conditions, but often present with a palpable urethral mass. Surgical diverticulectomy is the most commonly performed procedure, but does put the patient at risk for de novo stress incontinence and recurrent diverticula are not rare. Patients with pre-existing stress incontinence can be safely offered concomitant autologous pubovaginal sling at the time of diverticulectomy. Pathology is benign 97% of the time but one must have a high degree of suspicion in the case of a firm mass or if MRI indicates a mass within the diverticula. Physicians need to have a high degree of suspicion particularly in those patients whose symptoms do not resolve with standard treatment and pelvic MRI is the investigation of choice.

  12. Changes in Swallowing-related Quality of Life After Endoscopic Treatment For Zenker's Diverticulum Using SWAL-QOL Questionnaire.

    PubMed

    Colpaert, C; Vanderveken, O M; Wouters, K; Van de Heyning, P; Van Laer, C

    2017-03-09

    Dysphagia affects the most cardinal of human functions: the ability to eat and drink. The aim of this prospective study was to evaluate swallowing dysfunction in patients diagnosed with Zenker's diverticulum using the Swallowing Quality of Life (SWAL-QOL) questionnaire preoperatively. In addition, SWAL-QOL was used to assess changes in the outcome of swallowing function after endoscopic treatment of Zenker's diverticulum compared to baseline. Pre- and postoperative SWAL-QOL data were analyzed in 25 patients who underwent endoscopic treatment of Zenker's diverticulum between January 2011 and December 2013. Patients were treated by different endoscopic techniques, depending on the size of the diverticulum: CO2 laser technique or stapler technique, or the combination of both techniques used in larger diverticula. Their mean age was 69 years, and 28% of patients were female. The mean interval between endoscopic surgery and completion of the postoperative SWAL-QOL was 85 days. The median (min-max) preoperative total SWAL-QOL score was 621 (226-925) out of 1100, indicating the perception of oropharyngeal dysphagia and diminished quality of life. Following endoscopic treatment of Zenker's diverticulum, significant improvement was demonstrated in the postoperative total SWAL-QOL score of 865 (406-1072) out of 1100 (p < 0.001). On the majority of subscales of SWAL-QOL there was significant improvement between pre- and postoperative scores. To the authors' knowledge, this is the first report in the literature on the changes in pre- and postoperative SWAL-QOL scores for patients with Zenker's diverticulum before and after treatment. The results of this study indicate that endoscopic treatment of Zenker's diverticulum leads to significant symptom relief as documented by significant changes in the majority of the SWAL-QOL domains.

  13. Anesthetic and airway management of general anesthesia in a patient with Meckel-Gruber syndrome.

    PubMed

    Miyazu, Mitsunori; Sobue, Kazuya; Ito, Hiroaki; Azami, Takafumi; Ito, Shoji; Takeuchi, Akinori; Sasano, Hiroshi; Tsuda, Takako; Katsuya, Hirotada

    2005-01-01

    Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the larynx and tongue, along with other associated malformations, is in the list of diseases associated with difficult airway. However, there has been no report on the management of general anesthesia and airway management for such patients. A 2-year-old girl with Meckel-Gruber syndrome was scheduled for cardioplasty and gastrostomy for gastroesophageal reflux under general anesthesia. Preoperative examination revealed obesity, microgenia, dysspondylism, proteinuria, hypoplastic kidneys, and stenosis of the anal canal. Although we anticipated some difficulty with the intubation and prepared several alternative methods for intubation, such as a bronchofiberscope and a laryngeal mask airway, tracheal intubation was completed without difficulty using conventional laryngoscopy after inhalational induction with sevoflurane. Because most patients with this syndrome die before and shortly after delivery, those who survive to some age might have less severe deformities.

  14. Syndrome de Meckel Gruber: à propos d’un cas rare

    PubMed Central

    Itchimouh, Sanaa; Khabtou, Karima; Mahdaoui, Sakher; Boufettal, Houssine; Samouh, Naima

    2016-01-01

    Le syndrome de Meckel Gruber est un syndrome poly malformatif rare, de transmission autosomique récessive, défini par d'encéphalocèle occipital, polydactylie et dysplasie kystique rénale. L'échographie constitue, à l'heure actuelle, le meilleur moyen de dépistage anténatal de cette poly malformation létale et sa confirmation se fait par l'étude du caryotype. Nous rapportons un cas de syndrome de Meckel découvert par échographie. La grossesse a été interrompue à 25 semaines d'aménorrhée. PMID:28154732

  15. Interconnecting the posterior and middle cranial fossae for tumors that traverse Meckel's cave.

    PubMed

    Cheung, S W; Jackler, R K; Pitts, L H; Gutin, P H

    1995-03-01

    Meckel's cave is an avenue for tumor to spread between the posterior and middle cranial fossae. The most common neoplasms that traverse this channel are trigeminal schwannomas and meningiomas. The classic approach to address disease in both cranial fossae involves separate craniotomies. Recent innovations in skull base surgery have made it possible to perform a single opening with simultaneous exposure of the posterior and middle fossae, without undue brain retraction. Tumors with a large middle fossa component and a smaller posterior fossa portion are exposed via subtemporal craniotomy with petrosectomy and tentorium division. However, tumors with a large posterior fossa component and a smaller middle fossa portion in the setting of serviceable hearing are addressed with retrosigmoid craniotomy and petrosectomy. For bilobed tumors with substantial components in both fossae, subtemporal craniotomy combined with varying degrees of transtemporal petrosectomy and tentorium division is employed. The evolution of techniques to address tumors that traverse Meckel's cave is reviewed and a treatment algorithm is proposed.

  16. Epidermoid tumors of Meckel's cave: case report and review of the literature.

    PubMed

    Miyazawa, N; Yamazaki, H; Wakao, T; Nukui, H

    1989-12-01

    Lesions of Meckel's cave are extremely uncommon and difficult to diagnose. The symptoms and signs are variable, and the lesions may not appear on routine roentgenographic or computed tomographic examination. A patient with a small epidermoid tumor of Meckel's cave that was diagnosed by magnetic resonance imaging is herein reported. The epidermoid appeared as a low-intensity mass on the T1-weighted image and as a high-intensity mass on the T2-weighted image. Coronal sections defined the anatomic relationship to the trigeminal nerve. Preoperative recordings of the trigeminal sensory evoked response may be predictive of postoperative recovery of neurological deficits. Furthermore, intraoperative recording was extremely useful in avoiding inadvertent neurological injury. Review of the literature confirms the rarity of this lesion and the usefulness of magnetic resonance imaging in diagnosing it, although based on a limited number of cases.

  17. Pressure monitoring inside Meckel's cave during percutaneous microcompression of gasserian ganglion.

    PubMed

    Zanusso, M; Curri, D; Landi, A; Colombo, F; Volpin, L; Cervellini, P

    1991-01-01

    During percutaneous microcompression of the gasserian ganglion for the relief of trigeminal neuralgia, a computerized technique for monitoring the pressure inside Meckel's cave was employed in 22 patients. A dedicated transducer connected to a computer records the balloon inflation pressure. Its variations are discernible within tenths of a bar and are plotted in relation to time. The intraoperative pressure inside Meckel's cave is from 0.9 to 2.4 bars. When pressure was low, there was recurrence of pain. The highest values of pressure (1.9-2.4 bars) were observed in most of the patients suffering from untoward side effects. The clinical results seem to be influenced by the level of the intraoperative intracavitary pressure.

  18. Trigeminal Neuralgia Due to a Small Meckel's Cave Epidermoid Tumor: Surgery Using an Extradural Corridor.

    PubMed

    Furtado, Sunil V; Hegde, Alangar S

    2009-09-01

    Tumors at the petrous apex are associated with a variety of symptoms, which most often involve the trigeminal nerve. The authors present a rare case of a small epidermoid tumor in Meckel's cave that caused medically refractory trigeminal neuralgia. The surgical challenge associated with approaches to such lesions is discussed. The skull base tumor was excised completely through a small temporal craniotomy. The practicality of neuronavigation in reaching the petrous apex using a small extradural window is presented.

  19. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

    PubMed

    Karmous-Benailly, Houda; Martinovic, Jelena; Gubler, Marie-Claire; Sirot, Yoann; Clech, Laure; Ozilou, Catherine; Auge, Joëlle; Brahimi, Nora; Etchevers, Heather; Detrait, Eric; Esculpavit, Chantal; Audollent, Sophie; Goudefroye, Géraldine; Gonzales, Marie; Tantau, Julia; Loget, Philippe; Joubert, Madeleine; Gaillard, Dominique; Jeanne-Pasquier, Corinne; Delezoide, Anne-Lise; Peter, Marie-Odile; Plessis, Ghislaine; Simon-Bouy, Brigitte; Dollfus, Hélène; Le Merrer, Martine; Munnich, Arnold; Encha-Razavi, Férechté; Vekemans, Michel; Attié-Bitach, Tania

    2005-03-01

    Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1-BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder--that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or "Meckel-like" syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome.

  20. Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

    PubMed Central

    Karmous-Benailly, Houda; Martinovic, Jelena; Gubler, Marie-Claire; Sirot, Yoann; Clech, Laure; Ozilou, Catherine; Augé, Joëlle; Brahimi, Nora; Etchevers, Heather; Detrait, Eric; Esculpavit, Chantal; Audollent, Sophie; Goudefroye, Géraldine; Gonzales, Marie; Tantau, Julia; Loget, Philippe; Joubert, Madeleine; Gaillard, Dominique; Jeanne-Pasquier, Corinne; Delezoide, Anne-Lise; Peter, Marie-Odile; Plessis, Ghislaine; Simon-Bouy, Brigitte; Dollfus, Hélène; Le Merrer, Martine; Munnich, Arnold; Encha-Razavi, Férechté; Vekemans, Michel; Attié-Bitach, Tania

    2005-01-01

    Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1–BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%–40% of BBS cases. In addition, a complex triallelic inheritance has been established in this disorder—that is, in some families, three mutations at two BBS loci are necessary for the disease to be expressed. The clinical features of BBS that can be observed at birth are polydactyly, kidney anomaly, hepatic fibrosis, and genital and heart malformations. Interestingly, polydactyly, cystic kidneys, and liver anomalies (hepatic fibrosis with bile-duct proliferation) are also observed in Meckel syndrome, along with occipital encephalocele. Therefore, we decided to sequence the eight BBS genes in a series of 13 antenatal cases presenting with cystic kidneys and polydactyly and/or hepatic fibrosis but no encephalocele. These fetuses were mostly diagnosed as having Meckel or “Meckel-like” syndrome. In six cases, we identified a recessive mutation in a BBS gene (three in BBS2, two in BBS4, and one in BBS6). We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome. PMID:15666242

  1. An immunohistochemical study of human fetal liver in the Meckel-Gruber syndrome.

    PubMed

    Loo, Christine K C; Freeman, Brian; Killingsworth, Murray; Wu, Xiao-Juan

    2005-04-01

    The ductal plate abnormality of the liver in fetuses with the Meckel-Gruber syndrome has been well characterised, but its aetiology remains unknown. We have analysed liver structure in six fetuses with this syndrome, using routine histology, immunocytochemistry, and electron microscopy. Liver tissue from six fetuses of 11-27 weeks gestational age was examined by immunoperoxidase staining with antigens to cyokeratin (AE1/3) and polyclonal CEA. We also examined the ultrastructure of the syndromic fetal liver. The findings were compared with livers of control fetuses obtained from miscarriages, of similar size and gestational age but without dysmorphic features or developmental anomalies. The ductal plate abnormality was present in all the fetuses with the Meckel-Gruber syndrome. There were abnormalities of biliary excretion in all syndromic fetuses. Ultrastructural studies of the portal tract revealed abnormal collagen bundles in the Meckel-Gruber syndrome. Our findings, in conjunction with other reports in the literature, suggest that the ductal plate abnormality may be caused by failure of anastomosis of the intra- and extrahepatic biliary systems, perhaps in association with abnormalities of the portal tract stroma and biliary excretion.

  2. Expression of osteogenic proteins during the intrasplenic transplantation of Meckel's chondrocytes: A histochemical and immunohistochemical study.

    PubMed

    Ishizeki, Kiyoto; Kagiya, Tadayoshi; Fujiwara, Naoki; Otsu, Keishi; Harada, Hidemitsu

    2009-03-01

    Meckel's chondrocytes, derived from the ectomesenchyme, have the potential to transform into other phenotypes. In this study, we transplanted cell pellets of Meckel's chondrocytes into isogenic mouse spleens and analyzed their phenotypic transformation into osteogenic cells using histological and immunohistochemical methods. With the increasing duration of transplantation, chondrocytes were incorporated into splenic tissues and formed a von Kossa-positive calcified matrix containing calcium and phosphoric acid, similar to that of intact bone. Type I, II, and X collagens, and the bone-marker proteins osteocalcin, osteopontin, osteonectin, and bone morphogenetic protein-2 (BMP-2) were immunolocalized in the matrix formed by the transplanted chondrocytes. Osteopontin and osteonectin were detected in the calcified matrix at earlier stages than osteocalcin and BMP-2. Type II collagen was expressed during the first week of transplantation, and type X collagen-positive cells appeared scattered during the initial stage of calcification, these collagens being later replaced by type I collagen formed by osteocyte-like cells. Electron microscopic observations revealed that chondrocytes surrounded by the calcified matrix transformed into spindle-shaped osteocytic cells accompanying the formation of bone-type thick-banded collagen fibrils. These results suggest that phenotypic switching of Meckel's chondrocytes can occur under in vivo conditions at a cellular morphological level.

  3. Role of the "rising tide sign" in the diagnosis and assessment of the results of surgery for Zenker's diverticulum.

    PubMed

    Chen, J-R; Mirghani, H; Jafari, A; de Crouy Chanel, O; Périé, S; Lacau St Guily, J

    2013-12-01

    To evaluate the role of the videoendoscopic "rising tide sign" (RTS) in the diagnosis and assessment of surgical repair of Zenker's diverticulum. Retrospective. A total of 148 patients with Zenker's diverticulum underwent surgery in our department. A videoendoscopic swallowing study (VESS) was performed pre- and postoperatively, and the two examinations compared for the presence of the RTS. VESS characteristics based on the time to RTS onset and the size of diverticulum, as seen on a barium swallow, were also compared in a subset of 38 patients. All patients presented with the RTS on preoperative VESS. No correlation was observed between the time to onset of the sign and size of the diverticulum. Follow-up data were available for 121 patients (mean follow-up: 8 months): 111 patients were significantly improved during follow-up, with complete disappearance of the RTS. Recurrence of symptoms was observed at this time in 10 patients. Seven of these 10 patients had concomitant recurrence of the RTS and required repeat surgery after a mean follow-up of 37 months. The RTS observed by videoendoscopy is a supplementary tool for the diagnosis of Zenker's diverticulum and for evaluation of the efficacy of surgery during the postoperative follow-up. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  4. Contribution of Apoptosis and Apoptosis-Related Proteins to the Malformation of the Primitive Intrahepatic Biliary System in Meckel Syndrome

    PubMed Central

    Sergi, Consolato; Kahl, Philip; Otto, Herwart F.

    2000-01-01

    In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term “ductal plate malformation of the liver” was coined to label the insufficient remodeling of the primitive intrahepatic biliary system. Meckel syndrome is an autosomal recessive inherited disease characterized by occipital encephalocele, postaxial polydactyly, diffuse cystic renal dysplasia, and malformation of the ductal plate of the liver. We studied 52 fetuses with Meckel syndrome from five German centers (Berlin, Freiburg, Heidelberg, Mainz, and Marburg). Analysis of apoptosis and cell proliferation (Ki-67) was performed by terminal deoxynucleotide transferase-mediated dUTP nick-end labeling (TUNEL) and immunohistochemistry in the liver of 24 normal fetuses of different gestational ages (14–38 weeks of gestation) and in 14 fetuses with Meckel syndrome (17–38 weeks of gestation). The expression of two apoptosis-related proteins, Fas (a transmembrane cell surface protein involved in the apoptosis) and Bcl-2 (an anti-apoptotic protein), was studied by immunohistochemistry in the liver of 11 normal fetuses of different gestational ages (14–40 weeks of gestation) and in 40 fetuses with Meckel syndrome (16–38 weeks of gestation). In control fetuses, apoptosis rate and cell proliferation were high in the remodeling ductal plate and moderate in the ductal plate and in remodeled bile ducts. During gestation, expression of Fas and Bcl-2 decreased and increased, respectively. The malformed ductal plates in the fetal livers with Meckel syndrome showed a marked decrease in the apoptotic rate and Fas expression and an increase in proliferative activity and Bcl-2 expression in comparison with control fetuses. Furthermore, by linear regression analysis, we found that both proliferation activity

  5. Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome.

    PubMed

    Sergi, C; Kahl, P; Otto, H F

    2000-05-01

    In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term "ductal plate malformation of the liver" was coined to label the insufficient remodeling of the primitive intrahepatic biliary system. Meckel syndrome is an autosomal recessive inherited disease characterized by occipital encephalocele, postaxial polydactyly, diffuse cystic renal dysplasia, and malformation of the ductal plate of the liver. We studied 52 fetuses with Meckel syndrome from five German centers (Berlin, Freiburg, Heidelberg, Mainz, and Marburg). Analysis of apoptosis and cell proliferation (Ki-67) was performed by terminal deoxynucleotide transferase-mediated dUTP nick-end labeling (TUNEL) and immunohistochemistry in the liver of 24 normal fetuses of different gestational ages (14-38 weeks of gestation) and in 14 fetuses with Meckel syndrome (17-38 weeks of gestation). The expression of two apoptosis-related proteins, Fas (a transmembrane cell surface protein involved in the apoptosis) and Bcl-2 (an anti-apoptotic protein), was studied by immunohistochemistry in the liver of 11 normal fetuses of different gestational ages (14-40 weeks of gestation) and in 40 fetuses with Meckel syndrome (16-38 weeks of gestation). In control fetuses, apoptosis rate and cell proliferation were high in the remodeling ductal plate and moderate in the ductal plate and in remodeled bile ducts. During gestation, expression of Fas and Bcl-2 decreased and increased, respectively. The malformed ductal plates in the fetal livers with Meckel syndrome showed a marked decrease in the apoptotic rate and Fas expression and an increase in proliferative activity and Bcl-2 expression in comparison with control fetuses. Furthermore, by linear regression analysis, we found that both proliferation activity and apoptosis

  6. Large diverticulum of the urinary bladder: A rare cause of deep vein thrombosis with consecutive pulmonary embolism

    PubMed Central

    Zimmermann, Oliver; Torzewski, Jan; Reichenbach-Klinke, Ekkehard; Zenk, Christine

    2015-01-01

    A 73-year-old man was admitted with progressive dyspnea; he also had benign prostatic hyperplasia (BPH). An angio computed tomography scan showed pulmonary embolism with thrombi in both main pulmonary arteries. By duplex ultrasonography, we detected a thrombus in the right vena femoralis superficialis and vena femoralis communis. Simultaneously, we also noticed a large diverticulum on the right side of the urinary bladder and urinary stasis II of the left kidney. We consider the BPH as the trigger for a secondary diverticulum of the urinary bladder. As a result of its large dimensions, mechanical compression of the deep right pelvic veins resulted in thrombosis which finally caused the pulmonary embolism. With respect to the urinary stasis II, surgical excavation of the diverticulum with infravesical desobstruction was planned. The potentially lethal course of large diverticula may require surgery. PMID:26029307

  7. Perforated Meckel’s diverticulum in an adult due to faecolith: A case report and review of literature

    PubMed Central

    Modi, Sunny; Kanapathy Pillai, Shant; DeClercq, Stefaan

    2015-01-01

    Meckel’s diverticulum (MD) is a persistent remnant of the vitelointestinal duct and is present in 2% of population [1]. It is the most common congenital malformation of the gastrointestinal tract. It can present clinically as haemorrhage, diverticulitis, intussusception, chronic ulceration, intestinal obstruction and perforation. Complicated presentation, especially bleeding, tends to be more common in the paediatric group, whereas intestinal obstruction is more common in adults [2]. Patients with a perforation of Meckel’s diverticulum by an enterolith are rare and may present with right iliac fossa pain, which mimics acute appendicitis. PMID:26363105

  8. Massive upper gastrointestinal bleeding originating from a fourth-stage duodenal diverticulum: a case report and review of the literature

    PubMed Central

    Rioux, Louis; Groseilliers, Sylvain Des; Fortin, Michel; Mutch, David O.

    1996-01-01

    Duodenal diverticulum is well-known pathologic entity. Most such diverticula are asymptomatic and located on the second stage of the duodenum. The diagnosis is most often established by endoscopy or upper gastrointestinal radiography. Hemorrhage has been described but is an infrequent complication. We report on a patient who presented with massive upper gastrointestinal bleeding, originating from a fourth-stage duodenal diverticulum. The diagnosis was made with a combination of arteriography and scanning with technetium 99-labelled red cells. Diverticulectomy was performed with a successful outcome. This report underlines the diagnostic limits of fiberoptic endoscopy for hemorrhagic lesions located past the third stage of the duodenum. PMID:8956821

  9. [Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring].

    PubMed

    Tamayo-Espinosa, Tania; Erdmenger-Orellana, Julio; Becerra-Becerra, Rosario; Balderrabano-Saucedo, Norma; Segura-Standford, Begoña

    2017-06-15

    The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilatation of the aorta called Kommerell diverticulum. We report 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  10. Conservative management of perforated duodenal diverticulum: A case report and review of the literature

    PubMed Central

    Martínez-Cecilia, David; Arjona-Sánchez, Alvaro; Gómez-Álvarez, Manuel; Torres-Tordera, Eva; Luque-Molina, Antonio; Valentí-Azcárate, Victor; Briceño-Delgado, Javier; Padillo, Francisco-Javier; López-Cillero, Pedro; Rufián-Peña, Sebastián

    2008-01-01

    Duodenal diverticula are a relatively common condition. They are asymptomatic, unless they become complicated, with perforation being the rarest but most severe complication. Surgical treatment is the most frequently performed approach. We report the case of a patient with a perforated duodenal diverticulum, which was diagnosed early and treated conservatively with antibiotics and percutaneous drainage of secondary retroperitoneal abscesses. We suggest this method could be an acceptable option for the management of similar cases, provided that the patient is in good general condition and without septic signs. PMID:18350639

  11. Extraperitoneal Rupture of a Bladder Diverticulum and the Role of Multidetector Computed Tomography Cystography.

    PubMed

    Kodama, Koichi; Takase, Yasukazu; Saito, Katsuhiko

    2016-11-01

    Nontraumatic rupture of the bladder is less widely recognized than traumatic rupture, with a challenging early diagnosis due to high variability in clinical presentations. We report a case of extraperitoneal rupture of a bladder diverticulum in a patient with diabetes mellitus who presented with paralytic ileus. Despite conservative management, the patient developed sepsis requiring surgical treatment. Urinary tract infection and bladder outlet obstruction were considered to be potential mechanisms of the rupture. Multidetector computed tomography cystography should be used as the first-line modality when evaluating for a suspected bladder rupture, even in patients with nontraumatic bladder rupture.

  12. Endotherapy of Zenker's diverticulum using the needle-knife technique: long-term follow-up.

    PubMed

    Vogelsang, A; Preiss, C; Neuhaus, H; Schumacher, B

    2007-02-01

    Endotherapy of Zenker's diverticulum by mucomyotomy of the bridge between the diverticulum and the esophageal lumen has been introduced as a promising alternative to surgical techniques. However the data on long-term clinical outcome are limited. After poor results in four patients treated by argon plasma coagulation, we studied the efficacy and the long-term outcome of dissection using a needle-knife in a consecutive series of patients. Between December 2001 and November 2004, 31 consecutively treated symptomatic patients (18 men; median age 69 years; range 52-92) with Zenker's diverticulum were enrolled into this retrospective study. In all cases mucomyotomy was performed with a needle-knife with the patient under conscious sedation. The procedure was repeated in the case of incomplete relief from dysphagia or of recurrent symptoms during follow-up. All patients completed questionnaires on the frequency and severity of dysphagia, using a numeric analogue scale, ranging from 0 (never/none/excellent) to 10 (each time of swallowing/very severe/very bad). Endoscopic mucomyotomy was achieved in all 31 patients, with initial symptomatic improvement. Repeat treatment was required in 10 patients after a mean of 5.3 months, due to recurrence of symptoms. During a mean follow-up period of 26 months (range 14-49), 26 patients (84%) had long-term success of variable degree (65% with no or minimal remaining symptoms); four patients (13%) had insufficient relief and wanted a repeat treatment; and one patient (3%) underwent surgery. The success rate in the entire group was 84% (26/31) including those with repeat treatment, and 61% (19/31) if only success following a single treatment session was counted. Minor complications such as subcutaneous or mediastinal emphysema were observed in 23% and were conservatively managed. There were no major complications. A single needle-knife mucomyotomy procedure can achieve long-term symptomatic improvement in about two out of three cases of

  13. Imaging diagnosis--Vertebral canal porcupine quill with presumptive secondary arachnoid diverticulum.

    PubMed

    Schneider, Adam R; Chen, Annie V; Tucker, Russell L

    2010-01-01

    A 3-year-old Gordon Setter developed cervical hyperesthesia and a stiff gait. Upon magnetic resonance (MR) imaging, an arachnoid diverticulum was detected at the C1 level. Upon surgical resection, a porcupine quill was identified within the vertebral canal in the area of the cyst. At a retrospective review of the MR images, the quill appeared as a circular well-demarcated T2-hypointense lesion. Porcupine quill migrations are common in the dog but migration into the central nervous system is rare.

  14. Long-term outcome and quality of life after transoral stapling for Zenker diverticulum

    PubMed Central

    Bonavina, Luigi; Aiolfi, Alberto; Scolari, Federica; Bona, Davide; Lovece, Andrea; Asti, Emanuele

    2015-01-01

    AIM: To investigate long-term results and quality of life after transoral stapling of Zenker diverticulum. METHODS: The data of all patients admitted to our institution for the surgical treatment of Zenker diverticulum were entered into a prospective database. Demographics, symptoms, intraoperative and postoperative data, morbidity, time to oral feeding, and length of hospital stay were recorded. All patients underwent upper gastrointestinal endoscopy and a barium swallow study to measure the length of the diverticulum from the apex of the septum to the bottom of the pouch. Transoral stapling was performed using a Weerda diverticuloscope under general anesthesia. Over time, the technique was modified by applying traction sutures to ease engagement of the common septum inside the stapler jaws. Perioperative variables, symptoms, long-term outcome, and quality of life were analyzed. The operation was considered successful if the patient reported complete remission (grade 1) or marked improvement (grade 2) of dysphagia, regurgitation, and respiratory symptoms. Statistical analysis was performed using Statistical Package for Social Science (SPSS, Version 15, SPSS, Inc., Chicago, IL). RESULTS: Between 2001 and 2013, the transoral approach was successfully completed in 100 patients with a median age of 75 years. Patients with a larger (≥ 3 cm) diverticulum were older than those with a smaller pouch (P < 0.038). Complications occurred in 4% of the patients but there was no mortality. A statistically significant improvement of dysphagia and regurgitation scores (P < 0.001) was recorded over a median follow-up of 63 mo. Similarly, a significant decrease in the median number of pneumonia episodes per year (P < 0.001) was recorded after surgery. The overall long-term success rate of the procedure was 76%. The success rate of the operation was greater in patients of 70 years of age or older compared to younger individuals (P = 0.038). Use of traction sutures on the septum was

  15. Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany.

    PubMed

    Göbbel, Luminita; Schultka, Rüdiger; Klunker, Rudyard; Stock, Karsten; Helm, Jürgen; Olsson, Lennart; Opitz, John M; Gerlach, Antje; Tönnies, Holger

    2007-01-15

    The Anatomical collection of the Department of Anatomy and Cell Biology, Medical School of the University of Halle, Germany, comprises more than 8,000 specimens. Around 600 of them show congenital anomalies. The collection of abnormal human and animal fetuses began as the private collection of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803) and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the systematic science of developmental pathology. Radiographical techniques, computer tomographic (CT) methods, magnetic resonance imaging (MRI), and comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel-anatomical collections. Cystic hygroma colli was found in five of the human fetuses originally described by JF Meckel the Younger in 1826 and one of his students in 1819 [Hencke, 1819]. CGH analyses were used to test whether the observed cystic hygroma colli could be caused by chromosomal aneuploidies. CGH-ratio profiles of all chromosomes were apparently normal. PCR-based sex determination tests on ancient DNA were used to determine the fetal gonosomal constitution. It is likely that the Meckel specimens are among the oldest fetuses in which Ullrich-Turner "phenotype" has been diagnosed.

  16. Ewing sarcoma ewsa protein regulates chondrogenesis of Meckel's cartilage through modulation of Sox9 in zebrafish.

    PubMed

    Merkes, Chris; Turkalo, Timothy K; Wilder, Nicole; Park, Hyewon; Wenger, Luke W; Lewin, Seth J; Azuma, Mizuki

    2015-01-01

    Ewing sarcoma is the second most common skeletal (bone and cartilage) cancer in adolescents, and it is characterized by the expression of the aberrant chimeric fusion gene EWS/FLI1. Wild-type EWS has been proposed to play a role in mitosis, splicing and transcription. We have previously shown that EWS/FLI1 interacts with EWS, and it inhibits EWS activity in a dominant manner. Ewing sarcoma is a cancer that specifically develops in skeletal tissues, and although the above data suggests the significance of EWS, its role in chondrogenesis/skeletogenesis is not understood. To elucidate the function of EWS in skeletal development, we generated and analyzed a maternal zygotic (MZ) ewsa/ewsa line because the ewsa/wt and ewsa/ewsa zebrafish appeared to be normal and fertile. Compared with wt/wt, the Meckel's cartilage of MZ ewsa/ewsa mutants had a higher number of craniofacial prehypertrophic chondrocytes that failed to mature into hypertrophic chondrocytes at 4 days post-fertilization (dpf). Ewsa interacted with Sox9, which is the master transcription factor for chondrogenesis. Sox9 target genes were either upregulated (ctgfa, ctgfb, col2a1a, and col2a1b) or downregulated (sox5, nog1, nog2, and bmp4) in MZ ewsa/ewsa embryos compared with the wt/wt zebrafish embryos. Among these Sox9 target genes, the chromatin immunoprecipitation (ChIP) experiment demonstrated that Ewsa directly binds to ctgfa and ctgfb loci. Consistently, immunohistochemistry showed that the Ctgf protein is upregulated in the Meckel's cartilage of MZ ewsa/ewsa mutants. Together, we propose that Ewsa promotes the differentiation from prehypertrophic chondrocytes to hypertrophic chondrocytes of Meckel's cartilage through inhibiting Sox9 binding site of the ctgf gene promoter. Because Ewing sarcoma specifically develops in skeletal tissue that is originating from chondrocytes, this new role of EWS may provide a potential molecular basis of its pathogenesis.

  17. Meckel gruber syndrome: report of two cases with review of literature.

    PubMed

    Myageri, Aneel; Grampurohit, Vandana; Rao, Ravikala

    2013-01-01

    Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in the Department of Pathology; two of these fetuses were diagnosed as MKS. MKS is characterized by occipital meningoencephalocele, cystic kidneys, postaxial polydactyly, and fibrosis in the liver. MKS cases show genetic heterogeneity. MKS results in 100% fetal or neonatal mortality. As MKS has a high risk (25%) of recurrence; parents should be counseled for future pregnancies.

  18. Meckel Gruber Syndrome: Report of Two Cases with Review of Literature

    PubMed Central

    Myageri, Aneel; Grampurohit, Vandana; Rao, Ravikala

    2013-01-01

    Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in the Department of Pathology; two of these fetuses were diagnosed as MKS. MKS is characterized by occipital meningoencephalocele, cystic kidneys, postaxial polydactyly, and fibrosis in the liver. MKS cases show genetic heterogeneity. MKS results in 100% fetal or neonatal mortality. As MKS has a high risk (25%) of recurrence; parents should be counseled for future pregnancies. PMID:24479060

  19. Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case.

    PubMed

    Tanriverdi, Hamit Alper; Hendrik, Hans Joachim; Ertan, Kubilay; Schmidt, Werner

    2002-06-01

    We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.

  20. Histiocytic tumor of Meckel's cave. An intracranial equivalent of juvenile xanthogranuloma of the skin.

    PubMed

    Paulus, W; Kirchner, T; Michaela, M; Kühl, J; Warmuth-Metz, M; Sörensen, N; Müller-Hermelink, H K; Roggendorf, W

    1992-01-01

    We present the case of a 7-year-old boy who had a solitary mass within Meckel's cave that recurred 6 weeks after the initial resection. The histological, immunohistochemical, electron-microscopical, and molecular genetical features established the lesion's histiocytic nature. Our findings showed that it was closely related to juvenile xanthogranuloma, a benign lesion that usually occurs in the skin but has not yet been histologically confirmed in the brain. The present tumor is different from other intracranial histiocytic and xanthogranulomatous lesions.

  1. Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?

    PubMed Central

    Gulati, R; Phadke, S R; Agarwal, S S

    1997-01-01

    Meckel syndrome is an inherited autosomal recessive disease. A family is described in which four persons had minor malformations related to the syndrome, suggesting the possibility of manifesting heterozygotes. It is uncertain whether these malformations represent partial expression of the disease or are coincidental. However, partial expression has been described in heterozygotes for other autosomal recessive diseases. Until the gene responsible for this lethal syndrome is cloned and sequenced, such relatives of the proband may be offered genetic counselling and prenatal diagnosis. PMID:9391891

  2. Cardiac anomalies in Cantrell's pentalogy: From ventricular diverticulum to complete thoracic ectopia cordis.

    PubMed

    Kaouthar, Hakim; Jihen, Ayari; Faten, Jebri; Hela, Msaad; Fatma, Ouarda; Lilia, Chaker; Rafik, Boussaada

    2013-01-01

    Cantrell's pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. It is characterized by a combination of five anomalies that are: a midline supra umbilical abdominal wall defect, a sternal defect, an anterior diaphragmatic defect, a diaphragmatic pericardial defect and a congenital intra cardiac defect. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. We report two cases of Cantrell's pentalogy in which cardiac ectopia was complete in one case and limited to left ventricular diverticulum in the other case. Both cases had a common intracardiac defect which is a double outlet right ventricle. The first case underwent surgical repair of the intracardiac lesions with resection of the diverticulum associated to repair of the midline defects with good outcome. The second case that presented with complete extra thoracic ectopia cordis died because of sepsis. We review through this article the main characteristics of Cantrell's pentalogy, we highlight the diversity of anatomic lesions and study the prognosis of this syndrome.

  3. Cardiac anomalies in Cantrell’s pentalogy: From ventricular diverticulum to complete thoracic ectopia cordis

    PubMed Central

    Kaouthar, Hakim; Jihen, Ayari; Faten, Jebri; Hela, Msaad; Fatma, Ouarda; Lilia, Chaker; Rafik, Boussaada

    2014-01-01

    Summary Cantrell’s pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. It is characterized by a combination of five anomalies that are: a midline supra umbilical abdominal wall defect, a sternal defect, an anterior diaphragmatic defect, a diaphragmatic pericardial defect and a congenital intra cardiac defect. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. We report two cases of Cantrell’s pentalogy in which cardiac ectopia was complete in one case and limited to left ventricular diverticulum in the other case. Both cases had a common intracardiac defect which is a double outlet right ventricle. The first case underwent surgical repair of the intracardiac lesions with resection of the diverticulum associated to repair of the midline defects with good outcome. The second case that presented with complete extra thoracic ectopia cordis died because of sepsis. We review through this article the main characteristics of Cantrell’s pentalogy, we highlight the diversity of anatomic lesions and study the prognosis of this syndrome. PMID:25541632

  4. A superficial esophageal cancer in an epiphrenic diverticulum treated by endoscopic submucosal dissection.

    PubMed

    Fu, Kuangi; Jin, Peng; He, Yuqi; Suzuki, Masanori; Sheng, Jianqiu

    2017-08-07

    We report a unique case of a superficial esophageal cancer arising in a single diverticulum, diagnosed with magnifying image-enhanced endoscopy and then successfully treated by endoscopic submucosal dissection (ESD). A 66-year-old man with alcohol-related liver injury visited our hospital for endoscopy for investigation of varix. Esophagogastroduodenoscopy showed no varix but a large epiphrenic diverticulum with an area of fainted redness just above the esophagogastric junction. Narrow band imaging revealed a sharply demarcated brownish dotted area, and dilated intra-epithelial papillary capillary loops (IPCL) were subsequently seen after magnification. Chromoendoscopy with 1% Lugol's iodine solution demonstrated a well-demarcated unstained area, approximately 20 mm in diameter. Endoscopic biopsy revealed a squamous cell carcinoma (SCC). The tumor was completely resected by ESD without perforation. Histologically, it was an intraepithelial SCC without lympho-vascular invasion of cancer cells. No local recurrence or metastasis was detected at the last follow-up of 42 months.

  5. Long-term results of endosurgical and open surgical approach for Zenker diverticulum

    PubMed Central

    Bonavina, Luigi; Bona, Davide; Abraham, Medhanie; Saino, Greta; Abate, Emmanuele

    2007-01-01

    AIM: To assess the effectiveness of minimally invasive versus traditional open surgical approach in the treatment of Zenker diverticulum. METHODS: Between 1976 and 2006, 297 patients underwent transoral stapling (n = 181) or stapled diverticulectomy and cricopharyngeal myotomy (n = 116). Subjective and objective evaluations of the outcome of the two procedures were made at 1 and 6 mo after operation, and then every year. Long-term follow-up data were available for a subgroup of patients at a minimum of 5 and 10 years. RESULTS: The operative time and hospital stay were markedly reduced in patients undergoing the endosurgical approach. Overall, 92% of patients undergoing the endosurgical approach and 94% of those undergoing the open approach were symptom-free or were significantly improved after a median follow-up of 27 and 48 mo, respectively. At a minimum follow-up of 5 and 10 years, most patients were asymptomatic after both procedures, except for those individuals undergoing an endosurgical procedure for a small diverticulum (< 3 cm). CONCLUSION: Both operations relieve the outflow obstruction at the pharyngoesophageal junction, indicating that cricopharyngeal myotomy has an important therapeutic role in this disease independent of the resection of the pouch and of the surgical approach. Diverticula smaller than 3 cm represent a formal contraindication to the endosurgical approach because the common wall is too short to accommodate one cartridge of staples and to allow complete division of the sphincter. PMID:17552006

  6. Fluoroscopic balloon-guided transesophageal echocardiography in a patient with Zenker's diverticulum.

    PubMed

    Fergus, Icilma; Bennett, Edward S; Rogers, David M; Siskind, Steven; Messineo, Frank C

    2004-05-01

    During the past 20 years, transesophageal echocardiography (TEE) became an important diagnostic technique. Indications for TEE include: defining the cause and severity of native valve disease, particularly mitral regurgitation; detecting vegetations and other sequelae of endocarditis; assessing prosthetic valve function; and identifying a potential cardiac source for emboli.(1) TEE is usually well tolerated and is associated with few adverse events. However, structural abnormalities of the esophagus such as diverticula, stenoses, tumors, and advanced varices are relative contraindications to TEE because of the technical difficulties associated with probe advancement and the risk of esophageal perforation.(2) This report describes the successful performance of TEE in a patient with a Zenker's diverticulum. The patient was severely symptomatic of atrial fibrillation and was a poor candidate for long-term anticoagulation. Therefore, it was necessary to rule out a thrombus before cardioversion. Because the Zenker's diverticulum was large, a novel approach was taken using a balloon to occlude the orifice allowing safe passage of the TEE probe.

  7. Microanatomy of the mandibular symphysis in lizards: patterns in fiber orientation and Meckel's cartilage and their significance in cranial evolution.

    PubMed

    Holliday, Casey M; Gardner, Nicholas M; Paesani, Sylvia M; Douthitt, Mallory; Ratliff, Jack L

    2010-08-01

    Although the mandibular symphysis is a functionally and evolutionarily important feature of the vertebrate skull, little is known about the soft-tissue morphology of the joint in squamate reptiles. Lizards evolved a diversity of skull shapes and feeding behaviors, thus it is expected that the morphology of the symphysis will correspond with functional patterns. Here, we present new histological data illustrating the morphology of the joint in a number of taxa including iguanians, geckos, scincomorphs, lacertoids, and anguimorphs. The symphyses of all taxa exhibit dorsal and ventral fibrous portions of the joints that possess an array of parallel and woven collagen fibers. The middle and ventral portions of the joints are complemented by contributions of Meckel's cartilage. Kinetic taxa have more loosely built symphyses with large domains of parallel-oriented fibers whereas hard biting and akinetic taxa have symphyses primarily composed of dense, woven fibers. Whereas most taxa maintain unfused Meckel's cartilages, iguanians, and geckos independently evolved fused Meckel's cartilages; however, the joint's morphologies suggest different developmental mechanisms. Fused Meckel's cartilages may be associated with the apomorphic lingual behaviors exhibited by iguanians (tongue translation) and geckos (drinking). These morphological data shed new light on the functional, developmental, and evolutionary patterns displayed by the heads of lizards.

  8. Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.

    PubMed

    Biosse Duplan, Martin; Komla-Ebri, Davide; Heuzé, Yann; Estibals, Valentin; Gaudas, Emilie; Kaci, Nabil; Benoist-Lasselin, Catherine; Zerah, Michel; Kramer, Ina; Kneissel, Michaela; Porta, Diana Grauss; Di Rocco, Federico; Legeai-Mallet, Laurence

    2016-07-15

    Activating FGFR3 mutations in human result in achondroplasia (ACH), the most frequent form of dwarfism, where cartilages are severely disturbed causing long bones, cranial base and vertebrae defects. Because mandibular development and growth rely on cartilages that guide or directly participate to the ossification process, we investigated the impact of FGFR3 mutations on mandibular shape, size and position. By using CT scan imaging of ACH children and by analyzing Fgfr3(Y367C/+) mice, a model of ACH, we show that FGFR3 gain-of-function mutations lead to structural anomalies of primary (Meckel's) and secondary (condylar) cartilages of the mandible, resulting in mandibular hypoplasia and dysmorphogenesis. These defects are likely related to a defective chondrocyte proliferation and differentiation and pan-FGFR tyrosine kinase inhibitor NVP-BGJ398 corrects Meckel's and condylar cartilages defects ex vivo. Moreover, we show that low dose of NVP-BGJ398 improves in vivo condyle growth and corrects dysmorphologies in Fgfr3(Y367C/+) mice, suggesting that postnatal treatment with NVP-BGJ398 mice might offer a new therapeutic strategy to improve mandible anomalies in ACH and others FGFR3-related disorders. © The Author 2016. Published by Oxford University Press.

  9. Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week.

    PubMed

    Mittermayer, C; Lee, A; Brugger, P C

    2004-08-01

    The Meckel-Gruber syndrome (MKS) is a rare autosomal recessive disorder that is characterized by typical sonographical findings: occipital encephalocele, postaxial polydactyly and cystic enlargement of the kidneys. Its recurrence risk of 25 % demands an exact diagnosis. Retrospective analysis of the sonographic characteristics in relation to the gestational age in eight cases with the pathologic diagnosis of MKS. The sonographic characteristics depend on the gestational age. The classic trias was solely seen in the case diagnosed before 14 (th) week of gestation. In the other seven cases, diagnosed between the 17 (th) and 20 (th) week of gestational age, only two of three characteristic signs of MKS could be visualised by US. Polydactyly was missed by ultrasound in all seven cases due to the marked oligohydramnion. The Meckel-Gruber syndrome can be confidently detected and diagnosed by sonography at the 11th to 14th gestational week. Later in the pregnancy, severe oligohydramnion makes it more difficult to establish the diagnosis by US alone. In these cases a meticulous autopsy is necessary to establish the diagnosis of MKS.

  10. The uterine blush. A potential false-positive in Meckel's scan interpretation

    SciTech Connect

    Fink-Bennett, D.

    1982-10-01

    To determine the presence, prevalence, and clinical importance of /sup 99m/Tc pertechnetate uterine uptake, this retrospective analysis of 71 Meckel's scans was undertaken. Specifically, each study was evaluated for the presence of a focal accumulation of radiotracer cephalad to the bladder. Patients received an intravenous dose of 150 microCi/kg of /sup 99m/Tc pertechnetate. Each study consisted of 15 one minute anterior serial gamma camera images, and a 15, 30, and 60 minute anterior, right lateral and posterior scintiscan. Menstrual histories were obtained from all patients except two. No males (33/33), nor premenstrual (13/13), menopausal (4/4) or posthysterectomy (2/2) patients revealed a uterine blush. Eleven of 15 patients (73%) with regular menses demonstrated a uterine blush. They were in the menstrual or secretory phases of their cycle. Four demonstrated no uterine uptake, had regular periods, but were in the proliferative phase of their cycle. Two with irregular periods, and one with no recorded menstrual history, manifested the blush. Radiotracer should be expected in the uterus during the menstrual and secretory phases of the menstrual cycle. It is a manifestation of a normal physiologic phenomenon, and must be recognized to prevent false-positive Meckel's scan interpretations.

  11. Meckel's cartilage in Xenopus laevis during metamorphosis: a light and electron microscope study.

    PubMed Central

    Thomson, D A

    1986-01-01

    Meckel's cartilage, in Xenopus laevis prior to metamorphosis, is a tissue exhibiting very large lacunae, separated by thin rims of matrix, presenting a net-like appearance, similar to that of cartilage in invertebrates. The cells on the periphery of the tissue are rather more flattened, and more closely packed. On the lateral aspects of the cartilage distinct columns of apparently dividing cells are evident. During metamorphic climax, the amount of matrix separating the lacunae increases, with an associated decrease in lacunar size, and some of the deeper cells develop cilia, which are not seen either before or after climax. By the end of metamorphic climax there is a considerable increase in the amount of matrix present in the tissue, while many cells at all depths in the cartilage show the presence of lysosome-like structures, possibly associated with the changing shape of the cartilage. Intramembranous ossification is proceeding around Meckel's cartilage, but there is no evidence of endochondral ossification up to the end of metamorphosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 Fig. 11 Fig. 12 Fig. 13 Fig. 14 Fig. 15 Fig. 16 Fig. 17 Fig. 18 Fig. 19 PMID:3693112

  12. MR imaging of primary tumors of trigeminal nerve and Meckel's cave.

    PubMed

    Yuh, W T; Wright, D C; Barloon, T J; Schultz, D H; Sato, Y; Cervantes, C A

    1988-09-01

    MR imaging features of 11 primary tumors of the trigeminal nerve and Meckel's cave were analyzed. The tumors consisted of two trigeminal schwannomas, five meningiomas, one lipoma, and three epidermoid tumors. The trigeminal schwannomas had homogeneously decreased signal intensity on T1-weighted images and increased signal intensity on T2-weighted images. Three of the five meningiomas had signal intensity similar to that of surrounding brain on both T1- and T2-weighted images. One meningioma had decreased signal intensity on T1-weighted images and increased signal intensity on T2-weighted images. The other had relatively low signal intensity on both T1- and T2-weighted images owing to heavy calcification demonstrated on CT. The lipoma had homogeneous signal intensity that was isointense with orbital and subcutaneous fat on both T1- and T2-weighted images. The epidermoid tumors had decreased signal intensity on T1-weighted images and markedly increased signal intensity on T2-weighted images. In addition, the epidermoids had an insinuating growth pattern and minimal mass effect. The extent of involvement in the trigeminal nerve distribution was well demonstrated in each case. Because of its multiplanar capability, exquisite anatomic detail, and characteristic tissue signal intensity, we conclude that MR is helpful in the differential diagnosis of primary tumors of the trigeminal nerve and Meckel's cave and in the evaluation of tumor involvement for preoperative planning.

  13. Successful endovascular repair of an aneurysm of the ductus diverticulum with a branched stent graft: case report and review of literature.

    PubMed

    Saito, Naritatsu; Kimura, Takeshi; Toma, Masanao; Teragaki, Masakazu; Minaminimura, Hiroyoshi; Kita, Toru; Inoue, Kanji

    2004-12-01

    Aneurysm of the ductus diverticulum rarely has been reported in adults, and the reported aneurysms were treated with conventional open surgery or were diagnosed at autopsy. We report a successful endovascular repair of an aneurysm of the ductus diverticulum with the Inoue branched stent graft. In a 78-year-old woman, an abnormal shadow was noted at the aortopulmonary window on a chest x-ray film. A computed tomography scan demonstrated a 3.8-cm saccular aneurysm, which protruded inferiorly from the distal end of the aortic arch. The aneurysm was considered an aneurysm of the ductus diverticulum, and surgery was required. However, the patient was considered at high risk for respiratory dysfunction with conventional open surgery. Endovascular repair with an Inoue single-branched stent graft was performed with the patient under local anesthesia, successfully and without complication or endoleak. To our knowledge, this is the first report of endovascular treatment of an aneurysm of the ductus diverticulum.

  14. Narrowing of Meckel's cave and cavernous sinus and enlargement of the optic nerve sheath in Pseudotumor Cerebri.

    PubMed

    Degnan, Andrew Joseph; Levy, Lucien M

    2011-01-01

    Pseudotumor cerebri (PTC) is a clinical entity of uncertain etiology associated with several subtle findings on magnetic resonance imaging (MRI) including posterior flattening of the globes, enlargement of the optic nerve sheath (ONS), empty sella sign. We aimed to characterize the incidence of and significance of 2 novel MRI findings: narrowing of Meckel's cave and of cavernous sinus. Forty-six patients with a condition diagnosed as PTC based on clinical history were retrospectively reviewed, and their MRI studies were assessed for previously reported imaging findings associated with PTC. The maximal diameters of the cavernous sinuses, Meckel's caves, and ONSs were measured along with those of age-matched controls on axial T2-weighted images. The Meckel's caves and cavernous sinuses are significantly (P < 0.01) narrowed in patients (mean diameters: 0.41 and 0.25 cm) versus controls (0.54 and 0.36 cm), respectively. The ONS was enlarged in patients with a mean diameter of 0.65 cm versus 0.54 cm (P < 0.01). Meckel's cave narrowing and ONS enlargement seem to be better indicators of PTC than cavernous sinus narrowing, with sensitivities of 78.3% and 86.9% and specificities of 84.8% and 76.1% versus 60.9% and 76.1%, respectively. This finding of narrowed Meckel's caves in PTC may be clinically useful as a novel imaging finding seen on routine MRI studies. Optic nerve sheath enlargement is also confirmed as an important finding in PTC.

  15. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

    PubMed

    Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria Teresa; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, Francesca; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, Maria Alessandra; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider-Khouja, Neziha; Valente, Enza Maria

    2014-05-05

    Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome.

  16. [The scholarly program of Johann Friedrich Meckel the Younger (1781-1833) and it importance for the development of life sciences].

    PubMed

    Göbbel, Luminita; Schultka, Rüdiger

    2002-11-01

    Although Johann Friedrich Meckel the Younger was one of the most famous anatomists, his research work has been severely neglected in the recent historiographical literature on the German morphology. The goal of our study is to approach a general characterization of his research program. Our analysis reveals that Meckel introduced the Cuvierian empiricism in Germany, but he also considered the "Abstraktion" as a main component of the scientific knowledge. According to his epistemology on nascent organisms and transmutable species, both, variability and relatedness of the organic forms are important to the same degree. Meckel explicitly adopted the Jean-Baptiste de Lamarcks (1744-1829) evolutionary theories. Even though in Meckel's discourse about diversity the Cuvierian notion of "functional adaptation" was preserved, the main goal of his research program was to demonstrate empirically the "Allgemeinheit des Bildungstypus". For this purpose, he considered the entire variety of the animal kingdom: normal as well as abnormal organisms, adult specimens and above all embryos. Moreover, he believed that the abnormal development is due to the same laws as the normal development. He applied parallelisms to a new domain, the study of malformation. With Meckel's researches on teratology, a new era in the analyses of the anomalies was opened. They became an integral part of the natural diversity and thus a highly exploited subject of biomedical researches. Meckel's empirical and epistemological writings on the embryology, comparative embryology, teratology, pathology, systematics and comparative anatomy have largely contributed to the foundation of the biological research.

  17. Laparoscopic surgery for small-bowel obstruction caused by Meckel’s diverticulum

    PubMed Central

    Matsumoto, Takatsugu; Nagai, Motoki; Koike, Daisuke; Nomura, Yukihiro; Tanaka, Nobutaka

    2016-01-01

    A 26-year-old woman was referred to our hospital because of abdominal distention and vomiting. Contrast-enhanced computed tomography showed a blind loop of the bowel extending to near the uterus and a fibrotic band connecting the mesentery to the top of the bowel, suggestive of Meckel’s diverticulum (MD) and a mesodiverticular band (MDB). After intestinal decompression, elective laparoscopic surgery was carried out. Using three 5-mm ports, MD was dissected from the surrounding adhesion and MDB was divided intracorporeally. And subsequent Meckel’s diverticulectomy was performed. The presence of heterotopic gastric mucosa was confirmed histologically. The patient had an uneventful postoperative course and was discharged 5 d after the operation. She has remained healthy and symptom-free during 4 years of follow-up. This was considered to be an unusual case of preoperatively diagnosed and laparoscopically treated small-bowel obstruction due to MD in a young adult woman. PMID:26981191

  18. Diverticulum of the Vermiform Appendix—A Review of 28 Cases

    PubMed Central

    Yates, Lyle N.

    1972-01-01

    Twenty-eight previously unreported cases of appendiceal diverticula were found in a 15-year retrospective review of records at five hospitals. The incidence is probably higher than is realized. Data drawn from the review indicated that the age of the patient and a history of previous attacks might be slight clues to distinguishing between diverticulum and acute appendicitis. Inflamed or not, rarely are these diverticula recognizable at the time of operation, but if the appendix is bulbous or club-shaped or there is increased thickening of the mesentery, the surgeon's suspicion should be aroused. In four of fourteen acute cases in the series, perforation had occurred—within 15 hours of the onset of symptoms in two cases. In four others there was abscess formation within the mesentery of the appendix. PMID:4621490

  19. Surface electromyography in preoperative evaluation and postoperative monitoring of Zenker's diverticulum.

    PubMed

    Vaiman, Michael

    2006-01-01

    Patients with Zenker's diverticulum (ZD) underwent surface electromyography (sEMG) evaluation to determine sEMG patterns specific for ZD. Group 1 comprised patients with proven long-standing ZD that refused surgical treatment (n = 11, age mean = 55.7 years). Group 2 comprised surgically operated on patients with ZD (n = 6, age mean = 61 years). The timing, amplitude, and graphic patterns of activity of the masseter, submental, and laryngeal strap muscles were examined during voluntary single water swallows ("normal"), single swallows of excessive amounts of water (20 ml, "stress test"), and continuous drinking of 100 cc of water. The muscle activity in pharyngeal and initial esophageal stages of swallowing was measured, and graphic records were evaluated in relation to timing and voltage. The data were compared with the previously established normative database. The main sEMG patterns of ZD are (1) duration of swallowing and drinking is longer than normal (p < 0.05), (2) electric amplitude of laryngeal strap muscles during swallowing activity is higher than normal (p < 0.05), and (3) regurgitation peaks immediately after swallow followed by secondary swallow of the regurgitated portion of a bolus as seen at the sEMG records are specific graphic patterns for the ZD. Zenker's diverticulum has its own specific sEMG patterns. Surface EMG, being an important screening method for patients with dysphagia, is a valuable additional diagnostic tool for ZD. Because it is noninvasive and nonradiographic, it can be used for monitoring of long-standing cases of the disease as well as monitoring of postsurgical recovery.

  20. Embryological basis and clinical correlation of the rare congenital anomaly of the human gall bladder: - "the diverticulum" - a morphological study.

    PubMed

    Rajguru, Jaba; Jain, Shilpi; Khare, Satyam; Fulzele, Ratna R; Ghai, Rashmi

    2013-10-01

    Diverticulum of the human gall bladder is an important but distinct anatomical entity with significant clinical implications. It is one of the rarest congenital anomalies of the gall bladder being rarely discussed in literature. This article details the morphology of the diverticula found, along with the embryological basis and clinical significance of this important anatomical and clinical entity. To study the diverticula found, with respect to their morphology, and ascertain whether they were of congenital or acquired variety. Setting and Designs: The present study is a retrospective study carried on hundred cadavers during undergraduate dissection, in the Department of Anatomy, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, and Department of Anatomy, Subharti Medical College , Meerut during a four year period i.e. 2008-2012 after obtaining necessary permission from institutional ethical committee. Hundred gall bladder specimens collected from 10% formalin fixed cadavers were studied in detail with regard to their number, position, shapes dimensions and histology. Nine, congenital (true) diverticula were found in one hundred gall bladder specimens. The diverticula were of various shapes and dimensions. They formed pouches on the luminal surface of the gall bladder. Diagnosis of congenital diverticulum was confirmed by histology. In this cadaveric study, solitary diverticulum was found in nine (9%) specimens out of one hundred specimens. Association of diverticulum with non-specific prolonged ailments, acalculus cholecystitis, cholecystitis and cholelithiasis, recurrent cholangitis and carcinoma of gallbladder has been reported in literature. This important anatomical as well as clinical entity poses challenges for radiologists and laparoscopic surgeons during interventional procedures and also should be differentiated from other types of congenital anomalies and pathological states of gall bladder.

  1. Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage

    PubMed Central

    Alam, Areej; Adhi, Mehreen; Bano, Raffat; Zubair, Aisha; Mushtaq, Ammara

    2013-01-01

    Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage. PMID:24353549

  2. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

    PubMed

    Shaheen, Ranad; Faqeih, Eissa; Seidahmed, Mohammed Z; Sunker, Asma; Alali, Faten Ezzat; AlQahtani, Khadijah; Alkuraya, Fowzan S

    2011-06-01

    Meckel Gruber syndrome (MKS) is an autosomal recessive multisystem disorder that represents a severe form of ciliopathy in humans and is characterized by significant genetic heterogeneity. In this article, we describe the identification of a novel MKS locus MKS8 that we map to TCTN2, in a multiplex consanguineous family. TCTN2 is a paralog of the recently identified Tectonic 1, which has been shown to modulate sonic hedgehog signaling. Expression analysis at different developmental stages of the murine ortholog revealed a spatial and temporal pattern consistent with the MKS phenotype observed in our patient. The exclusion of this and the other seven MKS genes in our collection of consanguineous Arab MKS families confirms the existence of two additional MKS loci. © 2011 Wiley-Liss, Inc.

  3. Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage.

    PubMed

    Alam, Areej; Adhi, Mehreen; Bano, Raffat; Zubair, Aisha; Mushtaq, Ammara

    2013-01-01

    Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.

  4. A quantitative analysis of cellular and matrix changes in Meckel's cartilage in Xenopus laevis.

    PubMed Central

    Thomson, D A

    1987-01-01

    The changes in cell population and matrix volume fraction in Meckel's cartilage during metamorphic climax have been assessed using standard stereological techniques. The period of climax has been divided into three phases, a preliminary 'Lag' phase (NF Stages 57-60), a 'Division' phase (NF Stages 60-62) when the cell population rises rapidly and a 'Synthesis' phase (NF Stages 62-66) when the matrix content of the tissue also increases dramatically. These changes along with the membranous ossification occurring at the same time are postulated to be associated with the change in the feeding habit of the larvae from filtration prior to metamorphic climax to active predation in the young frog. PMID:3654355

  5. [The microsurgery of the tumor involving Meckel's cave and nearby area].

    PubMed

    Li, L

    1992-09-01

    A retrospective review of 12 cases of tumor involving Mackel's cave and nearby area seen at the Tongji hospital in a 20-year period. All of the cases may be divided to three clearly defined clinical groups: (1) Patients with typical trigeminal neuralgia. The tumor usually involve the ganglion. After removal the mass the prognosis were excellent. (2) Schwannoma or neurofibrosarcoma embedded in the semilunar ganglion with a history of atypical face pain without neurological deficit. After operation the pain relief was not as good as the group 1. (3) Patients with the history of face dysethesias and pain, tumors usually involving the middle fossa of cranial base with multiple cranial nerve deficit. These patients had variable mass lesions and after removed tumor the prognosis was not as good as in group 1 and group 2. The anatomy of Meckel's cave and surgical technique in treating these tumors were discussed also.

  6. [Chondroma adjacent to Meckel's cave mimicking a fifth cranial nerve neurinoma. A case report].

    PubMed

    Narro-Donate, Jose María; Huete-Allut, Antonio; Velasco-Albendea, Francisco J; Escribano-Mesa, Jose A; Mendez-Román, Paddy; Masegosa-González, Jose

    2016-01-01

    Cranial chondromas are tumours arising from chondrocyte embryonic remnants cells that usually appear in the skull base synchondrosis. In contrast to the rest of the organism, where chondroid tumours are the most common primary bone tumour just behind the haematopoietic lineage ones, they are a rarity at cranial level, with an incidence of less than 1% of intracranial tumours. The case is reported on a 42 year-old male referred to our clinic due to the finding of an extra-axial lesion located close to the Meckel's cave region, with extension to the posterior fossa and brainstem compression after progressive paraparesis of 6 months onset. With the diagnosis of trigeminal schwannoma, a subtotal tumour resection was performed using a combined supra-infratentorial pre-sigmoidal approach. The postoperative histopathology report confirmed the diagnosis of cranial chondroma.

  7. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

    PubMed

    Tallila, Jonna; Salonen, Riitta; Kohlschmidt, Nicolai; Peltonen, Leena; Kestilä, Marjo

    2009-08-01

    Meckel syndrome (MKS) is a lethal malformation syndrome that belongs to the group of disorders that are associated with primary cilia dysfunction. Total of five genes are known to be involved in the molecular background of MKS. Here we have systematically analyzed all these genes in a total of 29 MKS families. Seven of the families were Finnish and the rest originated from elsewhere in Europe. We found 12 novel mutations in 13 families. Mutations in the MKS genes are also found in other syndromes and it seems reasonable to assume that there is a correlation between the syndromes and the mutations. To obtain some supportive information, we collected all the previously published mutations in the genes to see whether the different syndromes are dictated by the nature of the mutations. Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes.

  8. Mutation Spectrum of Meckel Syndrome Genes: One Group of Syndromes or Several Distinct Groups?

    PubMed Central

    Tallila, Jonna; Salonen, Riitta; Kohlschmidt, Nicolai; Peltonen, Leena; Kestilä, Marjo

    2009-01-01

    Meckel syndrome (MKS) is a lethal malformation syndrome that belongs to the group of disorders that are associated with primary cilia dysfunction. Total of five genes are known to be involved in the molecular background of MKS. Here we have systematically analyzed all these genes in a total of 29 MKS families. Seven of the families were Finnish and the rest originated from elsewhere in Europe. We found 12 novel mutations in 13 families. Mutations in the MKS genes are also found in other syndromes and it seems reasonable to assume that there is a correlation between the syndromes and the mutations. To obtain some supportive information, we collected all the previously published mutations in the genes to see whether the different syndromes are dictated by the nature of the mutations. Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes. PMID:19466712

  9. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

    PubMed

    Frank, Valeska; den Hollander, Anneke I; Brüchle, Nadina Ortiz; Zonneveld, Marijke N; Nürnberg, Gudrun; Becker, Christian; Du Bois, Gabriele; Kendziorra, Heide; Roosing, Susanne; Senderek, Jan; Nürnberg, Peter; Cremers, Frans P M; Zerres, Klaus; Bergmann, Carsten

    2008-01-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 were identified, putting MKS on the list of ciliary disorders (ciliopathies). By positional cloning in a distantly related multiplex family, we mapped a novel locus for MKS to a 3-Mb interval on 12q21. Sequencing of the CEP290 gene located in the minimal critical region showed a homozygous 1-bp deletion supposed to lead to loss of function of the encoded centrosomal protein CEP290/nephrocystin-6. CEP290 is thought to be involved in chromosome segregation and localizes to cilia, centrosomes, and the nucleus. Subsequent analysis of another consanguineous multiplex family revealed homozygous haplotypes and the same frameshift mutation. Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome. We compiled clinical and genetic data of all patients with CEP290 mutations described so far. No clear-cut genotype-phenotype correlations were apparent as almost all mutations are nonsense, frameshift, or splice-site changes and scattered throughout the gene irrespective of the patients' phenotypes. Conclusively, other factors than the type and location of CEP290 mutations may underlie phenotypic variability. (c) 2007 Wiley-Liss, Inc.

  10. Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

    PubMed Central

    2012-01-01

    Background Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causative to date. Methods Families diagnosed with Meckel-Gruber syndrome were recruited for research studies following informed consent. DNA samples were analyzed by microsatellite genotyping and direct Sanger sequencing. Results We now report the genetic analyses of 87 individuals from 49 consanguineous and 19 non-consanguineous families in an unselected cohort with reported MKS, or an associated severe ciliopathy in a kindred. Linkage and/or direct sequencing were prioritized for seven MKS genes (MKS1, TMEM216, TMEM67/MKS3, RPGRIP1L, CC2D2A, CEP290 and TMEM237) selected on the basis of reported frequency of mutations or ease of analysis. We have identified biallelic mutations in 39 individuals, of which 13 mutations are novel and previously unreported. We also confirm general genotype-phenotype correlations. Conclusions TMEM67 was the most frequently mutated gene in this cohort, and we confirm two founder splice-site mutations (c.1546 + 1 G > A and c.870-2A > G) in families of Pakistani ethnic origin. In these families, we have also identified two separate founder mutations for RPGRIP1L (c. 1945 C > T p.R649X) and CC2D2A (c. 3540delA p.R1180SfsX6). Two missense mutations in TMEM67 (c. 755 T > C p.M252T, and c. 1392 C > T p.R441C) are also probable founder mutations. These findings will contribute to improved genetic diagnosis and carrier testing for affected families, and imply the existence of further genetic heterogeneity in this syndrome. PMID:23351400

  11. Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

    PubMed

    Szymanska, Katarzyna; Berry, Ian; Logan, Clare V; Cousins, Simon Rr; Lindsay, Helen; Jafri, Hussain; Raashid, Yasmin; Malik-Sharif, Saghira; Castle, Bruce; Ahmed, Mushtag; Bennett, Chris; Carlton, Ruth; Johnson, Colin A

    2012-10-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causative to date. Families diagnosed with Meckel-Gruber syndrome were recruited for research studies following informed consent. DNA samples were analyzed by microsatellite genotyping and direct Sanger sequencing. We now report the genetic analyses of 87 individuals from 49 consanguineous and 19 non-consanguineous families in an unselected cohort with reported MKS, or an associated severe ciliopathy in a kindred. Linkage and/or direct sequencing were prioritized for seven MKS genes (MKS1, TMEM216, TMEM67/MKS3, RPGRIP1L, CC2D2A, CEP290 and TMEM237) selected on the basis of reported frequency of mutations or ease of analysis. We have identified biallelic mutations in 39 individuals, of which 13 mutations are novel and previously unreported. We also confirm general genotype-phenotype correlations. TMEM67 was the most frequently mutated gene in this cohort, and we confirm two founder splice-site mutations (c.1546 + 1 G > A and c.870-2A > G) in families of Pakistani ethnic origin. In these families, we have also identified two separate founder mutations for RPGRIP1L (c. 1945 C > T p.R649X) and CC2D2A (c. 3540delA p.R1180SfsX6). Two missense mutations in TMEM67 (c. 755 T > C p.M252T, and c. 1392 C > T p.R441C) are also probable founder mutations. These findings will contribute to improved genetic diagnosis and carrier testing for affected families, and imply the existence of further genetic heterogeneity in this syndrome.

  12. [Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].

    PubMed

    Audifred-Salomón, J; Barrita-Domínguez I J; Ortiz, de Zárate-Alarcón; Sánchez-Hernández, H; Camacho-Cervantes, A

    2016-02-01

    Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The mortality rate is 100% and in view of the high index of recurrence, subsequent pregnancies should be investigated appropriately with genetic counseling. We present the case of a 15 years-old mother with 30.2 weeks pregnancy resulting from rape by consanguinity (grandfather), without prenatal care. On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pellucidum or herniated sac cerebellum and occipital level (encephalocele) are evident. It starts cervical ripening with prostaglandins for 24 hours to conduct further labor with oxytocic and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy family is authorized; however, it not has done because it is legal and only medical geneticist obtains medical case assessment. The Meckel-Gruber syndrome is a very rare condition that occurs in cases of consanguinity occasions. Mortality occurs in 100% of cases, so you should talk to parents and explain the best maternal prognosis, with abortion in the early stages and subsequent genetic counseling.

  13. Sudden perinatal death due to rupture of congenital cardiac diverticulum. Pathological findings and medico-legal investigations in malpractice charge.

    PubMed

    Marchesi, Matteo; Boracchi, Michele; Gentile, Guendalina; Maghin, Francesca; Zoja, Riccardo

    2017-09-01

    Congenital diverticula of the left ventricle, very rare malformations, are determined by an abnormal embryonic development of the ventricular wall and can be isolated or associated to other cardiac anomalies. In most of the cases, these pathologies are not symptomatic and in some patients can be associated to ventricular arrhythmia, cardiac rupture with tamponade and sudden death. Authors are presenting the case of a sudden death in an 8-weeks-old newborn due to rupture of a cardiac congenital diverticulum of the left ventricle, discovered only at the moment of the autopsic examination. The parents of the victim pressed charges against the medical staff that was appointed to the cares, blaming them with malpractice. The missed diagnosis of a cardiac congenital diverticulum of the left ventricle, a rare pathology, reflects the trickiness of the medical management that can lead to medico-legal controversies and, even though such rare conditions must be always taken into consideration when investigating possible dysfunction causing the death, diagnostic difficulties, in the case in exam, justify the missed diagnosis intra-vitam of cardiac ventricular diverticulum. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. Adult Onset Dysphagia: Right Sided Aortic Arch, Ductus Diverticulum, and Retroesophageal Ligamentum Arteriosum Comprising an Obstructing Vascular Ring

    PubMed Central

    Raheja, Hitesh; Kamholz, Stephan; Shetty, Vijay

    2017-01-01

    A 49-year-old African American male patient with no past medical history was admitted because of 3 months of difficulty swallowing solid and liquid foods. He had constant retrosternal discomfort and appeared malnourished. The chest radiograph revealed a right sided aortic arch with tracheal deviation to the left. A swallow study confirmed a fixed esophageal narrowing at the level of T6. Contrast enhanced Computed Tomography (CT) angiogram of the chest and neck revealed a mirror image right aortic arch with a left sided cardiac apex and a prominent ductus diverticulum (measuring 1.7 × 1.8 cm). This structure extended posterior to and indented the mid esophagus. A left posterolateral thoracotomy was performed and the ductus diverticulum was resected. A retroesophageal ligamentum arteriosum was found during surgery and divided. This rare combination of congenital anatomical aberrations led to severe dysphagia in our patient. Successful surgical correction in the form of resection of the ductus diverticulum and division of the retroesophageal ligamentum arteriosum led to complete resolution of our patient's symptoms.

  15. [Giant prostatic calculus with neurogenic bladder disease and prostate diverticulum: a case report and review of the literature].

    PubMed

    Li, Xiao-Shi; Quan, Chang-Yi; Li, Gang; Cai, Qi-Liang; Hu, Bin; Wang, Jiu-Wei; Niu, Yuan-Jie

    2013-02-01

    To study the etiology, clinical manifestation, diagnosis and treatment of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum. We retrospectively analyzed the clinical data of a case of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum and reviewed the relevant literature. The patient was a 37-year-old man, with urinary incontinence for 22 years and intermittent dysuria with frequent micturition for 9 years, aggravated in the past 3 months. He had received surgery for spina bifida and giant vesico-prostatic calculus. The results of preoperative routine urinary examination were as follows: WBC 17 -20/HPF, RBC 12 - 15/HPF. KUB, IVU and pelvic CT revealed spina bifida occulta, neurogenic bladder and giant prostatic calculus. The patient underwent TURP and transurethral lithotripsy with holmium-YAG laser. The prostatic calculus was carbonate apatite in composition. Urinary dynamic images at 2 weeks after surgery exhibited significant improvement in the highest urine flow rate and residual urine volume. Seventeen months of postoperative follow-up showed dramatically improved urinary incontinence and thicker urine stream. Prostate diverticulum with prostatic giant calculus is very rare, and neurogenic bladder may play a role in its etiology. Cystoscopy is an accurate screening method for its diagnosis. For the young patients and those who wish to retain sexual function, TURP combined with holmium laser lithotripsy can be employed, and intraoperative rectal examination should be taken to ensure complete removal of calculi.

  16. A large renal pelvic diverticulum, presenting incomplete excretion during tc-99m MAG-3 scintigraphy and tracer accumulation on tc-99m DMSA scintigraphy; a case report.

    PubMed

    Turgut, Bulent; Erselcan, Taner; Ozdemir, Semra; Hasbek, Zekiye; Tosun, H Bayram; Topaktas, Seher

    2004-12-01

    This case report illustrates the dynamic and static renal scintigraphic images of a patient with an unusual large diverticulum of the renal pelvis. The initial diagnosis by intravenous pyelography (IVP) and ultrasonographic (US) examination was a renal pelvic diverticulum of the left kidney, and the patient was referred to the nuclear medicine department for exploration of the effect of the pelvic diverticulum on renal functions. We performed dynamic renal scintigraphy with technetium-99m (Tc-99m) labeled mercaptoacetyl triglycine (MAG-3) and static renal scintigraphy with Tc-99m labeled dimercaptosuccinic acid (DMSA). In dynamic renal scintigraphy, bilaterally normal concentration function was observed. While right kidney excretion function was normal, an incomplete excretion pattern was seen on the left side. Complete urinary flow obstruction occurred approximately at the 10th minute of the acquisition, which did not seem to respond to the i.v. furosemide application. However, when only the renal cortex was included in the region of interest, the obstructive pattern disappeared. In static renal scintigraphy, a large renal pelvic diverticulum localized antero-medially was clearly visualized in the left-anterior oblique projection, most probably due to accumulation of radiopharmaceutical inside it. This case showed that a renal pelvic diverticulum should be thought of when an incomplete excretion pattern is seen on dynamic renal scintigraphy. Using only a cortical region of interest may also help to distinguish other types of obstructive pattern from diverticulum. Additionally, Tc-99m DMSA scintigraphy may show diverticulum localization with antero-oblique projections in addition to routine projections.

  17. [Pain of the trigeminal nerve as the first symptom of a metastasis from an oesohaguscarcinoma in Meckel's cave - case report].

    PubMed

    Mewes, H; Schroth, I; Deinsberger, W; Böker, D K

    2001-01-01

    Pain in all three divisions of the trigeminal nerve is in over 65% of all cases the first symptom of a tumour in Meckel's cave. Tumors in this location make up only 0,5% of all intracranial tumours. The most common are trigeminal schwannomas and meningeomas. A metastases as a cause of trigeminal pain is a rare description in the literature so far. We describe a patient with trigeminal pain and a tumour in Meckels's cave shown in the MRI, who were operated in our department. The histological examination of the tumour resulted in the diagnosis of metastatic carcinoma of an until then unknown oesophaguscarcinoma. - Although metastatic tumours are rare, we could show with our case, that they have to be included in differential dignostic considerations.

  18. Earliest description by Johann Friedrich Meckel, Senior (1750) of what is known today as Lutembacher syndrome (1916).

    PubMed

    Wiedemann, H R

    1994-10-15

    The letter that the famous anatomist Johann Friedrich Meckel, Sr. sent from Berlin on May 5, 1750 to the great Albrecht von Haller (at that time resident in Göttingen) contains the earliest reference to an unusual observation made by the former. Even today this observation is considered in the clinical literature to be the first description of a coarctation of the aorta. In fact, it is probably the first description of what is known today as Lutembacher syndrome.

  19. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

    PubMed

    Kyttälä, Mira; Tallila, Jonna; Salonen, Riitta; Kopra, Outi; Kohlschmidt, Nicolai; Paavola-Sakki, Paulina; Peltonen, Leena; Kestilä, Marjo

    2006-02-01

    Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes of the liver and polydactyly. Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. Comparative genomics and proteomics data implicate MKS1 in ciliary functions.

  20. [Dermoid Cyst in Meckel's Cave Presenting with Oculomotor Nerve Palsy and Trigeminal Neuralgia:A Case Report].

    PubMed

    Tanabe, Nozomu; Tomita, Takahiro; Nagai, Shoichi; Kuwayama, Naoya; Noguchi, Kyo; Kuroda, Satoshi

    2016-10-01

    The authors report a rare case of an intracranial dermoid cyst found in Meckel's cave. A 63-year-old woman developed left oculomotor nerve palsy and was referred to their hospital. Magnetic resonance imaging revealed a cystic lesion in the left Meckel's cave and prepontine cistern, but her symptoms gradually improved during conservative observation. However, three years later she complained of left facial pain in the territory of the second branch of the trigeminal nerve. The left oculomotor nerve palsy exacerbated again. Although her trigeminal neuralgia improved after carbamazepine administration, her oculomotor nerve palsy did not recover. Therefore, she underwent direct surgery through the anterior transpetrosal approach, and the fat-containing tumor cyst was completely resected. The tumor was strongly compressing the left trigeminal nerve and its ganglion in Meckel's cave. After surgery, her facial pain completely resolved and her oculomotor nerve palsy gradually improved. Histological examination revealed that the cyst wall was composed of a single layer of squamous epithelium and contained hair and keratin. A pathological diagnosis of a dermoid cyst was made.

  1. Endoscopic diverticulotomy with an isolated-tip needle-knife papillotome (Iso-Tome) and a fitted overtube for the treatment of a Killian-Jamieson diverticulum

    PubMed Central

    Lee, Chang Kyun; Chung, Il-Kwun; Park, Ji-Young; Lee, Tae Hoon; Lee, Suck-Ho; Park, Sang-Heum; Kim, Hong-Soo; Kim, Sun-Joo

    2008-01-01

    A Killian-Jamieson diverticulum (KJD) is an unfamiliar and rare cervical esophageal diverticulum. This diverticulum originates on the anterolateral wall of the proximal cervical esophagus through a muscular gap (the Killian-Jamieson space) below the cricopharyngeal muscle and lateral to the longitudinal muscle of the esophagus. To date, only surgical treatment has been recommended for a symptomatic KJD due to its close proximity to the recurrent laryngeal nerve and the concern of possible nerve injury. Recently, traditional open surgery for a symptomatic KJD is being challenged by the development of new endoscopic techniques and devices. We present here a case of a symptomatic KJD that was successfully treated with the flexible endoscopic diverticulotomy using two new devices. An isolated-tip needle-knife papillotome (Iso-Tome) was used for the dissection of the tissue bridge of the diverticulum. And a flexible overtube with a modified distal end (a fitted overtube) was used for adequate visualization of the tissue bridge of the diverticulum and protection of the surrounding tissue during dissection of the tissue bridge. Our successful experience suggests that the flexible endoscopic diverticulotomy with the use of appropriate endoscopic devices can be a safe and effective method for the treatment of a symptomatic KJD. PMID:19030220

  2. ASSESSMENT OF MECHANICAL AND MANUAL SUTURE IN THE SURGICAL TREATMENT OF THE PHARYNGOESOPHAGEAL DIVERTICULUM

    PubMed Central

    de AQUINO, José Luis Braga; CHAGAS, José Francisco Salles; SAID, Marcelo Manzano; PASCOAL, Maria Beatriz Nogueira; BRANDI-FILHO, Luis Antonio; PEREIRA, Douglas Alexandre Rizzanti; FRUET, Fernanda

    2015-01-01

    Background: The occurrence of the pharyngoesophageal, or Zenker diverticulum is not frequent in the national scenario, and the technique of the diverticulectomy with cricomyotomy in medium and great dimension diverticula is still the most indicated. Because the resection of the diverticulum requires the suture of the pharynx, dehiscence can occur, thereafter delaying swallowing. Hence, the idea is to accomplish this surgical procedure, comparing the manual and mechanical suture, in order to evaluate the real benefit of the mechanical technique. Aim: To evaluate the results of the pharyngoesophageal diverticulectomy with cricomyotomy using manual and mechanical suture with regard to local and systemic complications. Method: Fifty-seven patients with pharyngoesophageal diverticula diagnosed through high digestive endoscopy and pharyngeal esophagogram were studied. The applied surgical technique was diverticulectomy with myotomy of the cricopharyngeal muscle, done in 24 patients (42.2%) the mechanical suture (group A) with the mechanical linear suture device and in 33 (57.8%) a manual closure of the pharynx (group B). Results: In the postoperative period, one patient of group A (4.1%) presented fistula caused by dehiscence of the pharyngeal suture, and three of group B (15.1%) presented the same complication, with a good outcome using a conservative treatment. In the same group, three patients (9.0%) presented stenosis of the suture of the pharynx, with good outcome and with endoscopic dilatations, and no patient from group A presented such complication. Lung infection was present in five patients, being two (8.3%) of group A and three (9.0%) on B, having good outcomes after specific treatment. In the late review, done with 43 patients (94.4%) of group A and 22 (88.0%) on B, the patients declared to be pleased with the surgical procedure, because they were able to regain normal swallowing. Conclusion: The diverticulectomy with myotomy and pharyngeal closure using

  3. Functional analysis of CTRP3/cartducin in Meckel's cartilage and developing condylar cartilage in the fetal mouse mandible

    PubMed Central

    Yokohama-Tamaki, Tamaki; Maeda, Takashi; Tanaka, Tetsuya S; Shibata, Shunichi

    2011-01-01

    CTRP3/cartducin, a novel C1q family protein, is expressed in proliferating chondrocytes in the growth plate and has an important role in regulating the growth of both chondrogenic precursors and chondrocytes in vitro. We examined the expression of CTRP3/cartducin mRNA in Meckel's cartilage and in condylar cartilage of the fetal mouse mandible. Based on in situ hybridization studies, CTRP3/cartducin mRNA was not expressed in the anlagen of Meckel's cartilage at embryonic day (E)11.5, but it was strongly expressed in Meckel's cartilage at E14.0, and then reduced in the hypertrophic chondrocytes at E16.0. CTRP3/cartducin mRNA was not expressed in the condylar anlagen at E14.0, but was expressed in the upper part of newly formed condylar cartilage at E15.0. At E16.0, CTRP3/cartducin mRNA was expressed from the polymorphic cell zone to the upper part of the hypertrophic cell zone, but was reduced in the lower part of the hypertrophic cell zone. CTRP3/cartducin-antisense oligodeoxynucleotide (AS-ODN) treatment of Meckel's cartilage and condylar anlagen from E14.0 using an organ culture system indicated that, after 4-day culture, CTRP3/cartducin abrogation induced curvature deformation of Meckel's cartilage with loss of the perichondrium and new cartilage formation. Aggrecan, type I collagen, and tenascin-C were simultaneously immunostained in this newly formed cartilage, indicating possible transformation from the perichondrium into cartilage. Further, addition of recombinant mouse CTRP3/cartducin protein to the organ culture medium with AS-ODN tended to reverse the deformation. These results suggest a novel function for CTRP3/cartducin in maintaining the perichondrium. Moreover, AS-ODN induced a deformation of the shape, loss of the perichondrium/fibrous cell zone, and disorder of the distinct architecture of zones in the mandibular condylar cartilage. Additionally, AS-ODN-treated condylar cartilage showed reduced levels of mRNA expression of aggrecan, collagen types I

  4. Functional analysis of CTRP3/cartducin in Meckel's cartilage and developing condylar cartilage in the fetal mouse mandible.

    PubMed

    Yokohama-Tamaki, Tamaki; Maeda, Takashi; Tanaka, Tetsuya S; Shibata, Shunichi

    2011-05-01

    CTRP3/cartducin, a novel C1q family protein, is expressed in proliferating chondrocytes in the growth plate and has an important role in regulating the growth of both chondrogenic precursors and chondrocytes in vitro. We examined the expression of CTRP3/cartducin mRNA in Meckel's cartilage and in condylar cartilage of the fetal mouse mandible. Based on in situ hybridization studies, CTRP3/cartducin mRNA was not expressed in the anlagen of Meckel's cartilage at embryonic day (E)11.5, but it was strongly expressed in Meckel's cartilage at E14.0, and then reduced in the hypertrophic chondrocytes at E16.0. CTRP3/cartducin mRNA was not expressed in the condylar anlagen at E14.0, but was expressed in the upper part of newly formed condylar cartilage at E15.0. At E16.0, CTRP3/cartducin mRNA was expressed from the polymorphic cell zone to the upper part of the hypertrophic cell zone, but was reduced in the lower part of the hypertrophic cell zone. CTRP3/cartducin-antisense oligodeoxynucleotide (AS-ODN) treatment of Meckel's cartilage and condylar anlagen from E14.0 using an organ culture system indicated that, after 4-day culture, CTRP3/cartducin abrogation induced curvature deformation of Meckel's cartilage with loss of the perichondrium and new cartilage formation. Aggrecan, type I collagen, and tenascin-C were simultaneously immunostained in this newly formed cartilage, indicating possible transformation from the perichondrium into cartilage. Further, addition of recombinant mouse CTRP3/cartducin protein to the organ culture medium with AS-ODN tended to reverse the deformation. These results suggest a novel function for CTRP3/cartducin in maintaining the perichondrium. Moreover, AS-ODN induced a deformation of the shape, loss of the perichondrium/fibrous cell zone, and disorder of the distinct architecture of zones in the mandibular condylar cartilage. Additionally, AS-ODN-treated condylar cartilage showed reduced levels of mRNA expression of aggrecan, collagen types I

  5. Gallstone ileus associated with impaction at Meckel’s diverticulum: Case report and literature review

    PubMed Central

    Lamba, Harveen K; Shi, Yiwen; Prabhu, Ajita

    2016-01-01

    Gallstone ileus due to erosion of one or more gallstones into the gastrointestinal tract is an uncommon cause of small bowel obstruction. The site of impaction is usually distal ileum, and less commonly the jejunum, colon, duodenum, or stomach. We report a rare case of gallstone ileus with impaction at the proximal small bowel and at a Meckel’s diverticulum (MD) in a 64-year-old woman managed with laparoscopic converted to open small bowel resections. Patient was discharged home in stable condition and remained asymptomatic at 6-mo follow up. We review the current literature on surgical approaches to MD and gallstone ileus. Diverticulectomy or segmental resection is preferred for complicated MD. For gallstone ileus, simple enterolithotomy or segmental resection are the most the most favored especially in older co-morbid patients due to lower mortality rates and the rarity of recurrent gallstone ileus. In addition, laparoscopy has been increasingly reported as a safe approach to manage gallstone ileus. PMID:27933137

  6. Sigmoid sinus diverticulum: a new surgical approach to the correction of pulsatile tinnitus.

    PubMed

    Otto, Kristen J; Hudgins, Patricia A; Abdelkafy, Wael; Mattox, Douglas E

    2007-01-01

    Tinnitus represents a bothersome symptom not infrequently encountered in an otology practice. Tinnitus can be the harbinger of identifiable middle or inner ear abnormality; but more frequently, tinnitus stands alone as a subjective symptom with no easy treatment. When a patient complains of tinnitus that is pulsatile in nature, a thorough workup is indicated to rule out vascular abnormality. We report of a new diagnostic finding and method of surgical correction for select patients with pulsatile tinnitus. Retrospective case series. Tertiary care, academic referral center. Among patients seen for complaints of unilateral or bilateral pulsatile tinnitus, five were identified with diverticula of the sigmoid sinus. All patients had normal in-office otoscopic, tympanometric, and audiometric evaluations. Patients with paragangliomas or benign intracranial hypertension were excluded. Auscultation of the pinna or mastoid revealed an audible bruit in most patients. All patients underwent computed tomographic angiography of the temporal bone. In all cases, this finding was on the side coincident with the tinnitus. Three of five patients underwent transmastoid reconstruction of the sigmoid sinus. Patients were evaluated clinically for presence or absence of pulsatile tinnitus after reconstructive surgery. All patients electing surgical reconstruction had immediate and lasting resolution of the tinnitus. Surgical reconstruction can provide lasting symptom relief for patients with pulsatile tinnitus and computed tomographic evidence of a sigmoid sinus diverticulum.

  7. An unusual combination of congenital anomalies in an adult patient: patent ductus arteriosus, Kommerell's diverticulum with aberrant right subclavian artery, and heterotaxy syndrome.

    PubMed

    Celik, Murat; Celik, Turgay; Iyisoy, Atila; Guler, Adem

    2011-01-01

    The heterotaxy syndrome is a rare and sporadic disorder. This syndrome presents with situs ambiguus, splenic malformations such as asplenia or polysplenia, and congenital heart disease. Congenital heart diseases associated with this syndrome include a broad variety of manifestations. Patent ductus arteriosus is one of them and percutaneous transcatheter closure can be challenging in the setting of this syndrome. Kommerell's diverticulum is a saccular aneurysmal dilation at the origin of an aberrant subclavian artery, and can be related with other congenital anomalies. However, there is no previous report of Kommerell's diverticulum being found together with patent ductus arteriosus and heterotaxy syndrome.

  8. Antenatal detection of Meckel-Grüber syndrome in only one dizygotic twin following in vitro fertilization and embryo transfer.

    PubMed

    Shozu, M; Akimoto, K; Tanaka, J; Sonoda, Y; Inoue, M; Michikura, Y

    1997-01-01

    The first case of Meckel-Grüber syndrome in a dizygotic twin pregnancy following in vitro fertilization and embryo transfer is reported. An ultrasound examination at 26 weeks of gestation revealed multiple malformations of the presenting twin: the combination of an occipital encephalomeningocele, bilateral polycystic kidneys and postaxial polydactyly was suggestive of Meckel-Grüber syndrome. Diagnosis was confirmed after birth. The importance of this case is stressed since particular care must be taken to avoid multiple pregnancies in couples at risk undergoing assisted reproduction.

  9. A rare complication of colonic diverticulosis: giant diverticulum. Case report and overview of pathophysiology, diagnosis and therapeutic options.

    PubMed

    Vanderstappen, J H H; Hoofwijk, A G M; Sikkink, C J J M

    2014-01-01

    A rare complication of diverticulosis of the colon is giant colonic diverticulum, an entity first described by Bonvin in 1946. The experience of any surgeon with this problem is at the most still small and reported management in the literature has been varied. We present the case of a 84-year-old woman presenting with a painless abdominal mass and constipation. A 30 x 10 cm gas-filled cyst was discovered on abdominal X-ray and CT examination. Furthermore, we provide an overview of pathophysiology, diagnosis and therapeutic options.

  10. Endoscopic versus surgical approach in the treatment of Zenker’s diverticulum: systematic review and meta-analysis

    PubMed Central

    Albers, Débora V.; Kondo, André; Bernardo, Wanderley M.; Sakai, Paulo; Moura, Renata Nobre; Silva, Gustavo Luis Rodela; Ide, Edson; Tomishige, Toshiro; de Moura, Eduardo G. H.

    2016-01-01

    Background: Zenker’s diverticulum is a rare disease in the general population. Its treatment can be carried out by either an endoscopic or surgical approach. The objective of this study was to systematically identify all reports that compare both treatment modalities and to assess the outcomes in terms of length of procedure, length of hospitalization, time until diet introduction, complication rates, and recurrence rates. Methods: A search of Medline and Embase selected all studies that compared different methods of surgical and endoscopic treatment for Zenker’s diverticulum published in the English, Portuguese, and Spanish languages between 1975 and 2014. The meta-analysis was developed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. Data were extracted and analyzed for five different outcomes. Results: Eleven studies met the inclusion criteria, describing outcomes of endoscopic versus surgical treatment for 596 patients with Zenker’s diverticulum. A meta-analysis of the studies suggested a statistically significant reduction in operating time and length of hospitalization, favoring endoscopic treatment (standardized mean difference (SMD) – 78.06, 95 %CI – 90.63, – 65.48 and SMD – 3.72, 95 %CI – 4.49, – 2.95, respectively), just as with the reduction in the fasting period (SMD – 4.30, 95 %CI – 5.18, – 3.42) and risk of complications (SMD – 0.09, 95 %CI 0.03, 0.43) for patients who had undergone the endoscopic approach in comparison with the surgical group. Also, a statistically significant reduction in the risk of symptom recurrence was seen when the treatment of Zenker’s diverticulum was carried out by a surgical approach compared with endoscopic treatment (SMD 0.08, 95 %CI 0.03, 0.13). Conclusion: Compared with a surgical approach, endoscopic treatment appeared to result in a shorter length of procedure and

  11. Giant bladder diverticulum presenting with recurrent acute urinary retention--a rare event in adult patients: case report.

    PubMed

    Petito, Luigi; Lurati, Massimo; Verbo, Alessandro; Manno, Alberto; Pedretti, Giorgio; Coco, Claudio

    2006-01-01

    Acquired giant bladder diverticula of obstructive genesis are not particularly unusual. On the other hand, acute urinary retention due to bladder diverticula is an extremely rare event in adult patients, since most cases are paediatric. A 40-year-old white male with a history of invasive urological procedures presented with recurrent acute urinary retention. Diagnostic procedures including cystourethrography and cystoscopy revealed a giant bladder diverticulum causing ab extrinseco compression of the urethra. The iatrogenic aetiology of the vicious circle of chronic urethral obstruction and increased luminal pressure promoting diverticular growth is discussed.

  12. Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

    PubMed Central

    Sang, Liyun; Miller, Julie J.; Corbit, Kevin C.; Giles, Rachel H.; Brauer, Matthew J.; Otto, Edgar A.; Baye, Lisa M.; Wen, Xiaohui; Scales, Suzie J.; Kwong, Mandy; Huntzicker, Erik G.; Sfakianos, Mindan K.; Sandoval, Wendy; Bazan, J. Fernando; Kulkarni, Priya; Garcia-Gonzalo, Francesc R.; Seol, Allen D.; O'Toole, John F.; Held, Susanne; Reutter, Heiko M.; Lane, William S.; Rafiq, Muhammad Arshad; Noor, Abdul; Ansar, Muhammad; Devi, Akella Radha Rama; Sheffield, Val C.; Slusarski, Diane C.; Vincent, John B.; Doherty, Daniel A.; Hildebrandt, Friedhelm; Reiter, Jeremy F.; Jackson, Peter K.

    2011-01-01

    Nephronophthisis (NPHP), Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and cerebellar/neural tube malformation. Whether defects in kidney, retinal, or neural disease primarily involve ciliary, Hedgehog, or cell polarity pathways remains unclear. Using high-confidence proteomics, we identified 850 interactors copurifying with nine NPHP/JBTS/MKS proteins, and discovered three connected modules: “NPHP1-4-8” functioning at the apical surface; “NPHP5-6” at centrosomes; and “MKS” linked to Hedgehog signaling. Assays for ciliogenesis and epithelial morphogenesis in 3D renal cultures link renal cystic disease to apical organization defects, whereas ciliary and Hedgehog pathway defects lead to retinal or neural deficits. Using 38 interactors as candidates, linkage and sequencing analysis of 250 patients identified ATXN10 and TCTN2 as new NPHP-JBTS genes and our Tctn2 mouse knockout shows neural tube and Hedgehog signaling defects. Our study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways. PMID:21565611

  13. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

    PubMed

    Maglic, Dino; Stephen, Joshi; Malicdan, May Christine V; Guo, Jennifer; Fischer, Roxanne; Konzman, Daniel; Mullikin, James C; Gahl, William A; Vilboux, Thierry; Gunay-Aygun, Meral

    2016-11-01

    Joubert and Meckel-Gruber syndromes (JS and MGS) are ciliopathies with overlapping features. JS patients manifest the "molar tooth sign" on brain imaging and variable eye, kidney, and liver disease. MGS presents with polycystic kidneys, occipital encephalocele, and polydactyly; it is typically perinatally fatal. Both syndromes are genetically heterogeneous; some genes cause either syndrome. Here, we report two brothers married to unrelated women. The first brother had three daughters with JS and a son with polycystic kidneys who died at birth. The second brother's wife had a fetal demise due to MGS. Whole exome sequencing identified TMEM231 NM_001077416.2: c.784G>A; p.(Asp262Asn) in all children and the wife of the first brother; the second brother's wife had a c.406T>G;p.(Trp136Gly) change. In-depth analysis uncovered a rare gene conversion event in TMEM231, leading to loss of exon 4, in all the affected children of first brother. We believe that the combination of this gene conversion with different missense mutations led to a spectrum of phenotypes that span JS and MGS. © 2016 WILEY PERIODICALS, INC.

  14. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

    PubMed

    Bruechle, Nadia Ortiz; Steuernagel, Peter; Zerres, Klaus; Kurth, Ingo; Eggermann, Thomas; Knopp, Cordula

    2017-06-15

    Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly. We identified a homozygous mutation in TMEM67 (MKS3) in a fetus affected by MKS; however, only the mother was a carrier of the respective mutation. Genotyping with polymorphic microsatellite markers and single nucleotide polymorphism (SNP) array revealed a maternal uniparental disomy (UPD) of the entire chromosome 8 (upd(8)mat), harboring TMEM67. This is the first reported case of UPD as a cause of MKS. The possible underlying mechanisms for uniparental disomy (UPD) are reviewed. Even if rare, awareness of UPD and comprehensive work-up in the case of unexpected homozygosity for a recessive mutation is essential for accurate genetic counseling and assessment of the risk of recurrence.

  15. Distribution of myofibroblastic cells in the liver and kidney of Meckel-Gruber syndrome.

    PubMed

    Kuroda, Naoto; Ishiura, Yoshihito; Kawashima, Masaaki; Miyazaki, Eriko; Hayashi, Yoshihiro; Enzan, Hideaki

    2004-01-01

    Meckel-Gruber syndrome (MGS) is a rare disorder characterized by occipital encephalocele, polydactyly and polycystic kidney. Early diagnosis is very important because MGS has a high risk of recurrence and infants with MGS are frequently stillborn or die soon after birth. An autopsy case of MGS is presented and the focus is specifically on the myofibroblastic cells of the liver and polycystic kidney. Although routine histological examination did not reveal hepatic fibrosis, a specific distribution of alpha smooth muscle actin (alpha-SMA)-positive and h-caldesmon (h-CD)-negative stromal cells (myofibroblastic cells) was observed along the limiting plate of the portal area. Furthermore, myofibroblastic cells were focally distributed along the sinusoidal wall and around the bile ducts in the portal area. In the polycystic kidney, the presence of myofibroblastic cells in the stroma between the cystic lesions was also confirmed by electron microscopy. In conclusion, myofibroblastic cells were distributed in the liver and kidney of a patient with MGS and their specific distribution in the liver may be indicative of prestage hepatic fibrosis.

  16. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

    PubMed

    Baala, Lekbir; Romano, Stephane; Khaddour, Rana; Saunier, Sophie; Smith, Ursula M; Audollent, Sophie; Ozilou, Catherine; Faivre, Laurence; Laurent, Nicole; Foliguet, Bernard; Munnich, Arnold; Lyonnet, Stanislas; Salomon, Remi; Encha-Razavi, Ferechte; Gubler, Marie-Claire; Boddaert, Nathalie; de Lonlay, Pascale; Johnson, Colin A; Vekemans, Michel; Antignac, Corinne; Attie-Bitach, Tania

    2007-01-01

    Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly. Occipital encephalocele and/or polydactyly have occasionally been reported in some patients with JS, and these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS). MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. Since there is obvious phenotypic overlap between JS and MKS, we hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of JS. After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3.

  17. Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.

    PubMed

    Kurtulmuş, Seçil; Demirpençe, Savaş; Can Öztekin, Deniz; Koç, Altuğ; Tavlı, Vedide

    2014-03-01

    We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including fetal heart. Fetal echocardiography revealed a horizontal liver, left-sided stomach and vena cava interruption with azygos continuation. There was also an apical trabecular ventricular septal defect, aorta and pulmonary artery arising from the left ventricle, pulmonary artery hypoplasia, pulmonary valve stenosis and left atrial isomerism. The heart rate was 46/min, consistent with third-degree atrioventricular block. Multiple anomalies including occipital encephalocele, bilateral polycystic kidneys, cleft lip, cleft palate, and polydactyly were also detected in the obstetric ultrasonography. The pregnancy was terminated in the 23rd gestational week based on the consensus of perinatology council. The autopsy examination confirmed the diagnosis of MKS, left atrial isomerism and heterotaxy syndrome. Although some cardiac defects have been reported previously in MKS fetuses, here we expand the cardiac spectrum of anomalies associated with MKS to include left atrial isomerism and heterotaxy syndrome.

  18. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.

    PubMed

    Eckmann-Scholz, Christel; Jonat, Walter; Zerres, Klaus; Ortiz-Brüchle, Nadine

    2012-10-01

    To describe early ultrasound findings in Meckel-Gruber syndrome (MKS) in first and second trimester of three families, detailed ultrasound findings have been documented in addition to pathoanatomical findings and results of DNA studies. A splice site mutation in the MKS4 gene could be detected. Clinical management accounting risk assessment for future pregnancies is discussed and early ultrasound markers in MKS are described. All cases were examined in a tertiary center for prenatal diagnosis by ultrasound. Necroscopy confirmed the clinical diagnosis. Fetal DNA analysis was accomplished in a reference center for MKS. In addition, ultrasound findings in early pregnancy of two further cases are described. Three couples presented with pregnancies complicated by MKS. The earliest diagnosis was suspected in 11 + 6 weeks of gestation and was confirmed in 13 + 0 weeks by ultrasound revealing a large occipital encephalocele and polycystic kidneys. Another case with recurrent MKS in two consecutive pregnancies was diagnosed in 20 weeks and 14 weeks of gestation, respectively. Here a close molecular genetic follow-up was performed leading to the detection of two mutations in the MKS4 gene in both fetuses. The third case was diagnosed in 15 weeks of gestation. Ultrasound findings in all pregnancies were doubtless and autopsies confirmed the diagnosis. Detection of MKS is already possible in the first trimester. Knowledge of the underlying genetic defect helps counseling the couples with recurrence of MKS and chorionic villi sampling in the first trimester of pregnancy can be offered.

  19. A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.

    PubMed

    Al-Belushi, Mariam; Al Ibrahim, Abdullah; Ahmed, Mayada; Ahmed, Badredeen; Khenyab, Najat; Konje, Justin C

    2016-01-01

    Meckel-Gruber (MKS) syndrome is a lethal autosomal abnormality diagnosed most commonly from classical findings on ultrasound scan after the late first trimester. There are few reports of cases followed up antenatally until delivery. We report here one of the largest series of 19 cases diagnosed antenatally from as early as 11 weeks gestation with 5 born alive. Of the 12 cases followed up antenatally, 7 were stillbirths while 5 were live births. The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortality was 100% within a few weeks of delivery. The incidence of 2/1000 live births in the local population is similar to that reported from similar groups where consanguinity is more than 40%. The recurrence rate was high with 50% of the parous patients having had an affected baby. We conclude that diagnosis in early pregnancy does not require the classical triad of encephalocele, polydactyly and polycystic kidneys as some of these features do not manifest on imaging until much later.

  20. The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

    PubMed Central

    Baala, Lekbir; Romano, Stéphane; Khaddour, Rana; Saunier, Sophie; Smith, Ursula M.; Audollent, Sophie; Ozilou, Catherine; Faivre, Laurence; Laurent, Nicole; Foliguet, Bernard; Munnich, Arnold; Lyonnet, Stanislas; Salomon, Rémi; Encha-Razavi, Férechté; Gubler, Marie-Claire; Boddaert, Nathalie; Lonlay, Pascale de; Johnson, Colin A.; Vekemans, Michel; Antignac, Corinne; Attié-Bitach, Tania

    2007-01-01

    Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly. Occipital encephalocele and/or polydactyly have occasionally been reported in some patients with JS, and these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS). MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. Since there is obvious phenotypic overlap between JS and MKS, we hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of JS. After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3. PMID:17160906

  1. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

    PubMed Central

    Roberson, Elle C.; Dowdle, William E.; Ozanturk, Aysegul; Garcia-Gonzalo, Francesc R.; Li, Chunmei; Halbritter, Jan; Elkhartoufi, Nadia; Porath, Jonathan D.; Cope, Heidi; Ashley-Koch, Allison; Gregory, Simon; Thomas, Sophie; Sayer, John A.; Saunier, Sophie; Otto, Edgar A.; Katsanis, Nicholas; Davis, Erica E.; Attié-Bitach, Tania; Hildebrandt, Friedhelm; Leroux, Michel R.

    2015-01-01

    The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. Tmem231 and B9d1 are essential for each other and other complex components such as Mks1 to localize to the transition zone. As in mouse, the Caenorhabditis elegans orthologue of Tmem231 localizes to and controls transition zone formation and function, suggesting an evolutionarily conserved role for Tmem231. We identified TMEM231 mutations in orofaciodigital syndrome type 3 (OFD3) and MKS patients that compromise transition zone function. Thus, Tmem231 is critical for organizing the MKS complex and controlling ciliary composition, defects in which cause OFD3 and MKS. PMID:25869670

  2. Epidermoid cyst in Meckel's cave with unusual computed tomography and magnetic resonance imaging findings. Case report.

    PubMed

    Arai, Atsushi; Sasayama, Takashi; Koyama, Junji; Fujita, Atsushi; Hosoda, Kohkichi; Kohmura, Eiji

    2010-01-01

    A 27-year-old woman presented with headache and occasional numbness over her right face. Computed tomography revealed a hypodense mass in the middle cranial fossa and another adjacent hyperdense mass in the posterior fossa with erosion of the right petrous apex. Magnetic resonance imaging revealed the lesion in the middle cranial fossa as iso- to hypointense on T(1)-weighted and hyperintense on T(2)-weighted imaging, with peripheral enhancement after gadolinium administration, and the adjacent lesion in the posterior fossa as hyperintense on T(1)-weighted and hypointense on T(2)-weighted imaging. During surgery, these lesions mimicking two adjacent distinct tumors were revealed to connect through Meckel's cave. The hypodense lesion in the middle cranial fossa consisted of pearly-like solid contents, and the hyperdense lesion in the posterior cranial fossa consisted of viscid dark-green materials. The tumors were gross totally resected with endoscopic assistance. Histological examination confirmed that the tumor was an epidermoid cyst. The present case cyst indicates that although the diffusion-weighted imaging sequence is useful for detection of intracranial epidermoid cysts, epidermoid cysts including viscous materials with unusual radiological findings could complicate the preoperative diagnosis.

  3. Differential expression of renal proteins in a rodent model of Meckel syndrome.

    PubMed

    Mason, Stephen B; Lai, Xianyin; Ringham, Heather N; Bacallao, Robert L; Harris, Peter C; Witzmann, Frank A; Gattone, Vincent H

    2011-01-01

    Meckel syndrome (MKS) is a fatal autosomal recessive condition with prominent renal cystic pathology. Renal protein misexpression was evaluated in the Wpk rat model of human MKS3 gene disease to identify biomarkers for the staging of renal cystic progression. Misexpressed proteins were compared between early and late stages of MKS renal cystic disease using proteomic analysis (two-dimensional gel electrophoresis with LC-MS/MS identification) followed by Western blot analysis. A proteomic analysis identified 76 proteins with statistically different, normalized abundance in at least one group. Subsequently, Western blot was used to confirm differential expression in several of these and polycystic kidney disease (PKD)-associated proteins. Galectin-1 and vimentin were identified as overexpressed proteins, which have been previously found in the jck mouse model of nephronophthisis 9. Ciliopathic PKD proteins, polycystins 1 & 2, and fibrocystin were also differentially expressed in Wpk kidney. In the Wpk rat, misexpressed proteins were identified that were also implicated in other forms of cystic disease. Numerous proteins were either over- or underexpressed in late-stage disease. Differences in protein expression may serve as biomarkers of cystic disease and its progression. Copyright © 2010 S. Karger AG, Basel.

  4. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

    PubMed Central

    Weatherbee, Scott D.; Niswander, Lee A.; Anderson, Kathryn V.

    2009-01-01

    Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality associated with a complex syndrome that includes occipital meningoencephalocele, hepatic biliary ductal plate malformation, postaxial polydactyly and polycystic kidneys. The gene mutated in type 1 MKS encodes a protein associated with the base of the cilium in vertebrates and nematodes. However, shRNA knockdown studies in cell culture have reported conflicting results on the role of Mks1 in ciliogenesis. Here we show that loss of function of mouse Mks1 results in an accurate model of human MKS, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development and the kidney that mirror the human syndrome. In contrast to cell culture studies, loss of Mks1 in vivo does not interfere with apical localization of epithelial basal bodies but rather leads to defective cilia formation in most, but not all, tissues. Analysis of patterning in the neural tube and the limb demonstrates altered Hedgehog (Hh) pathway signaling underlies some MKS defects, although both tissues show an expansion of the domain of response to Shh signaling, unlike the phenotypes seen in other mutants with cilia loss. Other defects in the skull, lung, rib cage and long bones are likely to be the result of the disruption of Hh signaling, and the basis of defects in the liver and kidney require further analysis. Thus the disruption of Hh signaling can explain many, but not all, of the defects caused by loss of Mks1. PMID:19776033

  5. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

    PubMed

    Roberson, Elle C; Dowdle, William E; Ozanturk, Aysegul; Garcia-Gonzalo, Francesc R; Li, Chunmei; Halbritter, Jan; Elkhartoufi, Nadia; Porath, Jonathan D; Cope, Heidi; Ashley-Koch, Allison; Gregory, Simon; Thomas, Sophie; Sayer, John A; Saunier, Sophie; Otto, Edgar A; Katsanis, Nicholas; Davis, Erica E; Attié-Bitach, Tania; Hildebrandt, Friedhelm; Leroux, Michel R; Reiter, Jeremy F

    2015-04-13

    The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex formation and function. Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts. Tmem231 and B9d1 are essential for each other and other complex components such as Mks1 to localize to the transition zone. As in mouse, the Caenorhabditis elegans orthologue of Tmem231 localizes to and controls transition zone formation and function, suggesting an evolutionarily conserved role for Tmem231. We identified TMEM231 mutations in orofaciodigital syndrome type 3 (OFD3) and MKS patients that compromise transition zone function. Thus, Tmem231 is critical for organizing the MKS complex and controlling ciliary composition, defects in which cause OFD3 and MKS. © 2015 Roberson et al.

  6. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    PubMed Central

    Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Romani, Sveva; Illi, Barbara; Adams, Matthew; Szymanska, Katarzyna; Mazzotta, Annalisa; Lee, Ji Eun; Tolentino, Jerlyn C.; Swistun, Dominika; Salpietro, Carmelo D.; Fede, Carmelo; Gabriel, Stacey; Russ, Carsten; Cibulskis, Kristian; Sougnez, Carrie; Hildebrandt, Friedhelm; Otto, Edgar A.; Held, Susanne; Diplas, Bill H.; Davis, Erica; Mikula, Mario; Strom, Charles M.; Ben-Ze’ev, Bruria; Lev, Dorit; Sagie, Tally Lerman; Michelson, Marina; Yaron, Yuval; Krause, Amanda; Boltshauser, Eugen; Elkhartoufi, Nadia; Roume, Joelle; Shalev, Stavit; Munnich, Arnold; Saunier, Sophie; Inglehearn, Chris; Saad, Ali; Alkindy, Adila; Thomas, Sophie; Vekemans, Michel; Dallapiccola, Bruno; Katsanis, Nicholas; Johnson, Colin A.; Attié-Bitach, Tania; Gleeson, Joseph G.

    2010-01-01

    Joubert syndrome (JBTS), related disorders (JSRD) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and JBTS2 loci are allelic and due to mutations in TMEM216, encoding an uncharacterized tetraspan transmembrane protein. JBTS2 patients displayed frequent nephronophthisis and polydactytly, and two cases conformed to the Oro-Facio-Digital type VI phenotype, whereas skeletal dysplasia was common in MKS fetuses. A single p.R73L mutation was identified in all patients of Ashkenazi Jewish descent (n=10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in patient fibroblasts or following siRNA knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 complexed with Meckelin, encoded by a gene also mutated in JSRD and MKS. Abrogation of tmem216 expression in zebrafish led to gastrulation defects that overlap with other ciliary morphants. The data implicate a new family of proteins in the ciliopathies, and further support allelism between ciliopathy disorders. PMID:20512146

  7. 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

    PubMed

    Molin, Arnaud; Benoist, Guillaume; Jeanne-Pasquier, Corinne; Elkartoufi, Nadia; Litzer, Julie; Decamp, Matthieu; Gruchy, Nicolas; Durand-Malbruny, Marion; Begorre, Marianne; Attie-Bitach, Tania; Leporrier, Nathalie

    2013-10-01

    We report on a fetus with Meckel syndrome diagnosed during the 21st gestational week, hydrocephalus and bilateral hyperechogenic kidneys were then detected on ultrasonography. Fetal pathological examination showed facial dysmorphism, occipital meningoencephalocele, characteristic renal cysts, mild hepatic ductal dysplasia, hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies. Molecular and cytogenetic analysis identified a paternally inherited CEP290/MKS4 (MIM611134) (12q21) nonsense mutation and a maternal 12q21 microdeletion. Two cases with such a mechanism have previously been described in the literature, one of them involves an inherited microdeletion. The observation of such cases highlights the existence of a pathogenic mechanism which involves deletion and point mutation, and illustrates how homozygosity can hide hemizygosity when usual sequencing methods are used. The identification of hemizygosity enables to determine precisely the molecular mechanism and to understand some phenotypic variations. As they act as complete loss of function allele, deletions might give indication on the severity of the associated point mutation. This clinical report highlights the importance of fetal pathology following termination of pregnancies in order to guide molecular analysis and the potential role of cytogenetic cryptic disorders in autosomal recessive disease. The use of polymorphic marker analysis in association with FISH or arrayCGH provided an accurate identification of molecular mechanisms, accurate genetic counseling and optimized strategy for next pregnancies or preimplantation diagnosis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  8. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

    PubMed

    Valente, Enza Maria; Logan, Clare V; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L; Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Romani, Sveva; Illi, Barbara; Adams, Matthew; Szymanska, Katarzyna; Mazzotta, Annalisa; Lee, Ji Eun; Tolentino, Jerlyn C; Swistun, Dominika; Salpietro, Carmelo D; Fede, Carmelo; Gabriel, Stacey; Russ, Carsten; Cibulskis, Kristian; Sougnez, Carrie; Hildebrandt, Friedhelm; Otto, Edgar A; Held, Susanne; Diplas, Bill H; Davis, Erica E; Mikula, Mario; Strom, Charles M; Ben-Zeev, Bruria; Lev, Dorit; Sagie, Tally Lerman; Michelson, Marina; Yaron, Yuval; Krause, Amanda; Boltshauser, Eugen; Elkhartoufi, Nadia; Roume, Joelle; Shalev, Stavit; Munnich, Arnold; Saunier, Sophie; Inglehearn, Chris; Saad, Ali; Alkindy, Adila; Thomas, Sophie; Vekemans, Michel; Dallapiccola, Bruno; Katsanis, Nicholas; Johnson, Colin A; Attié-Bitach, Tania; Gleeson, Joseph G

    2010-07-01

    Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals conformed to the oro-facio-digital type VI phenotype, whereas skeletal dysplasia was common in fetuses affected by MKS. A single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent (n=10). TMEM216 localized to the base of primary cilia, and loss of TMEM216 in mutant fibroblasts or after knockdown caused defective ciliogenesis and centrosomal docking, with concomitant hyperactivation of RhoA and Dishevelled. TMEM216 formed a complex with Meckelin, which is encoded by a gene also mutated in JSRDs and MKS. Disruption of tmem216 expression in zebrafish caused gastrulation defects similar to those in other ciliary morphants. These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders.

  9. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

    PubMed

    Baala, Lekbir; Audollent, Sophie; Martinovic, Jéléna; Ozilou, Catherine; Babron, Marie-Claude; Sivanandamoorthy, Sivanthiny; Saunier, Sophie; Salomon, Rémi; Gonzales, Marie; Rattenberry, Eleanor; Esculpavit, Chantal; Toutain, Annick; Moraine, Claude; Parent, Philippe; Marcorelles, Pascale; Dauge, Marie-Christine; Roume, Joëlle; Le Merrer, Martine; Meiner, Vardiella; Meir, Karen; Menez, Françoise; Beaufrère, Anne-Marie; Francannet, Christine; Tantau, Julia; Sinico, Martine; Dumez, Yves; MacDonald, Fiona; Munnich, Arnold; Lyonnet, Stanislas; Gubler, Marie-Claire; Génin, Emmanuelle; Johnson, Colin A; Vekemans, Michel; Encha-Razavi, Férechté; Attié-Bitach, Tania

    2007-07-01

    Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS.

  10. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

    PubMed

    Weatherbee, Scott D; Niswander, Lee A; Anderson, Kathryn V

    2009-12-01

    Meckel syndrome (MKS) is a rare autosomal recessive disease causing perinatal lethality associated with a complex syndrome that includes occipital meningoencephalocele, hepatic biliary ductal plate malformation, postaxial polydactyly and polycystic kidneys. The gene mutated in type 1 MKS encodes a protein associated with the base of the cilium in vertebrates and nematodes. However, shRNA knockdown studies in cell culture have reported conflicting results on the role of Mks1 in ciliogenesis. Here we show that loss of function of mouse Mks1 results in an accurate model of human MKS, with structural abnormalities in the neural tube, biliary duct, limb patterning, bone development and the kidney that mirror the human syndrome. In contrast to cell culture studies, loss of Mks1 in vivo does not interfere with apical localization of epithelial basal bodies but rather leads to defective cilia formation in most, but not all, tissues. Analysis of patterning in the neural tube and the limb demonstrates altered Hedgehog (Hh) pathway signaling underlies some MKS defects, although both tissues show an expansion of the domain of response to Shh signaling, unlike the phenotypes seen in other mutants with cilia loss. Other defects in the skull, lung, rib cage and long bones are likely to be the result of the disruption of Hh signaling, and the basis of defects in the liver and kidney require further analysis. Thus the disruption of Hh signaling can explain many, but not all, of the defects caused by loss of Mks1.

  11. Female Urethral Diverticulum: Presentation, Diagnosis, and Predictors of Outcomes After Surgery

    PubMed Central

    El-Nashar, Sherif A.; Singh, Ruchira; Bacon, Melissa M.; Kim-Fine, Shunaha; Occhino, John A.; Gebhart, John B.; Klingele, Christopher J.

    2017-01-01

    Introduction and Hypothesis To report on clinical presentation, diagnosis, and outcomes after treatment of female urethral diverticulum (UD). Methods Using a record linkage system, women with a new diagnosis of UD at Mayo Clinic from January 1, 1980, through December 31, 2011, were identified. The presenting symptoms, clinical characteristics, diagnosis, and management of women presenting with UD were recorded. Outcomes after surgery were assessed using survival analysis. All statistical analyses were 2-sided and P values less than 0.05 were considered significant. Statistical analysis was done using SAS version 9.2 and JMP version 9.0 (SAS Institute Inc.). Results A total of 164 cases were identified. Median age at diagnosis was 46 years (range, 21–83). The most common presenting symptom was recurrent urinary tract infection (98, 59.8%), followed by urinary incontinence (81, 49.4%), dysuria (62, 37.8%), dyspareunia (37, 22.6%), and hematuria (15, 9.1%). Examination revealed vaginal mass in 55 (33.5%) of the women. A significant trend was noted toward an increase in use of both magnetic resonance imaging and computed tomography (P < 0.001) along with a progressive decrease in use of urethrogram (P < 0.001) for diagnosis of UD over the years. Among 114 women who underwent surgical treatment for UD, 14(12.3%) women presented with recurrent UD and the 5-year recurrence rate after surgery for UD was 23.4% (95% confidence interval, 13.9–37.0) and a reoperation rate of 17.0% (95% confidence interval, 8.8–30.2) at 5 years. Conclusions Female UD is a rare and unique condition. Clinical presentation is usually nonspecific, and magnetic resonance imaging is commonly used for confirming the diagnosis. Recurrence is not uncommon, and repeat surgical intervention might be needed. PMID:27636213

  12. Surgical treatment of an acquired posterior urethral diverticulum with cystoscopy assisted robotic technique.

    PubMed

    Guneri, Cagri; Kirac, Mustafa; Biri, Hasan

    2017-03-01

    A 42-year-old man with a history of recurrent urethral stenosis, recurrent urinary tract infection and macroscopic hematuria has referred to our clinic. He underwent several internal urethrotomies and currently using clean intermittent self-catheterization. During the internal urethrotomy, we noted a large posterior urethral diverticulum (UD) between verumontanum and bladder neck. His obstructive symptoms were resolved after the catheter removal. But perineal discomfort, urgency and dysuria were prolonged about 3-4 weeks. Urinalysis and urine culture confirmed recurrent urinary tract infections. Due to this conditions and symptoms, we planned a surgical approach which was planned as transperitoneal robotic-assisted laparoscopic approach. This technique is still applied for the diverticulectomy of the bladder. In addition to this we utilized the cystoscopy equipments for assistance. During this process, cystoscope was placed in the UD to help the identification of UD from adjacent tissues like seminal vesicles by its movement and translumination. Operating time was 185 min. On the post-operative third day he was discharged. Foley catheter was removed after 2 weeks. Urination was quite satisfactory. His perineal discomfort was resolved. The pathology report confirmed epidermoid (tailgut) cyst of the prostate. Urethrogram showed no radiologic signs of UD after 4 weeks. Irritative and obstructive symptoms were completely resolved after 3 months. No urinary incontinence, erectile dysfunction or retrograde ejaculation was noted. While posterior UD is an extremely rare situation, surgical treatment of posterior UD remains uncertain. To our knowledge, no above-mentioned cystoscopy assisted robotic technique for the treatment was described in the literature.

  13. Laparoscopic diverticulectomy with the aid of intraoperative gastrointestinal endoscopy to treat epiphrenic diverticulum

    PubMed Central

    Yu, Lei; Wu, Ji-xiang; Chen, Xiao-hong; Zhang, Yun-Feng; Ke, Ji

    2016-01-01

    OBJECTIVE: Most researchers believe that the presence of large epiphrenic diverticulum (ED) with severe symptoms should lead to the consideration of surgical options. The choice of minimally invasive techniques and whether Heller myotomy with antireflux fundoplication should be employed after diverticulectomy became points of debate. The aim of this study was to describe how to perform laparoscopic transhiatal diverticulectomy (LTD) and oesophagomyotomy with the aid of intraoperative gastrointestinal (GI) endoscopy and how to investigate whether the oesophagomyotomy should be performed routinely after LTD. PATIENTS AND METHODS: From 2008 to 2013, 11 patients with ED underwent LTD with the aid of intraoperative GI endoscopy at our department. Before surgery, 4 patients successfully underwent oesophageal manometry: Oesophageal dysfunction and an increase of the lower oesophageal sphincter pressure (LESP) were found in 2 patients. RESULTS: There were 2 cases of conversion to an open transthoracic procedure. Six patients underwent LTD, Heller myotomy and Dor fundoplication; and 3 patients underwent only LTD. The dysphagia and regurgitation 11 patients experienced before surgery improved significantly. Motor function studies showed that there was no oesophageal peristalsis in 5 patients during follow-up, while 6 patients showed seemingly normal oesophageal motility. The LESP of 6 patients undergoing LTD, myotomy and Dor fundoplication was 16.7 ± 10.2 mmHg, while the LESPs of 3 patients undergoing only LTD were 26 mmHg, 18 mmHg and 21 mmHg, respectively. In 4 cases experiencing LTD, myotomy and Dor fundoplication, the gastro-oesophageal reflux occurred during the sleep stage. CONCLUSIONS: LTD constitutes a safe and valid approach for ED patients with severe symptoms. As not all patients with large ED have oesophageal disorders, according to manometric and endoscopic results, surgeons can categorise and decide whether or not myotomy and antireflux surgery after LTD will

  14. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.

    PubMed

    Barker, Amy R; Thomas, Rhys; Dawe, Helen R

    2014-01-01

    The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.

  15. First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case.

    PubMed

    Braithwaite, J M; Economides, D L

    1995-12-01

    Meckel-Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12+2 weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.

  16. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

    PubMed Central

    Barker, Amy R; Thomas, Rhys; Dawe, Helen R

    2014-01-01

    The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems. PMID:24322779

  17. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

    PubMed

    Consugar, Mark B; Kubly, Vickie J; Lager, Donna J; Hommerding, Cynthia J; Wong, Wai Chong; Bakker, Egbert; Gattone, Vincent H; Torres, Vicente E; Breuning, Martijn H; Harris, Peter C

    2007-06-01

    Meckel-Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital encephalocele, polydactyly and biliary dysgenesis. MKS is genetically heterogeneous with three loci mapped and two identified; MKS1 (17q23) and MKS3 (8q22.1). MKS1 is part of the Finnish disease heritage, while MKS3 has been described exclusively in consanguineous Asian families. Here we aimed to establish molecular diagnostics for MKS, determine the importance of MKS1 and MKS3 in non-consanguineous populations, and study genotype/phenotype correlations. The coding regions of MKS1 and MKS3 were screened for mutations by direct sequencing in 17 families clinically diagnosed with MKS in the US or The Netherlands. The clinical phenotype was compared to genic and allelic effects. Both mutations were identified in ten families; five MKS1 and five MKS3. All but two were compound heterozygotes, consistent with their non-consanguineous nature. The MKS1-Fin(major) mutation accounted for 7/10 MKS1 mutations; two novel changes were additionally detected. Seven novel mutations were found in MKS3, including three missense changes. We concluded that MKS1 and MKS3 account for the majority of MKS in non-consanguineous populations of European origin. Polydactyly is usually found in MKS1 but rare in MKS3. Cases with no, or milder, CNS phenotypes were only found in MKS3; hypomorphic missense mutations may be associated with less severe CNS outcomes. This study is consistent with further genetic heterogeneity of MKS, but underlines the value of molecular diagnostics of the known genes to aid family planning decisions.

  18. A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

    PubMed

    Morgan, Neil V; Gissen, Paul; Sharif, Saghira Malik; Baumber, Laura; Sutherland, Joan; Kelly, Deirdre A; Aminu, Kingi; Bennett, Christopher P; Woods, C Geoffrey; Mueller, Robert F; Trembath, Richard C; Maher, Eamonn R; Johnson, Colin A

    2002-10-01

    Meckel-Gruber syndrome (MKS), the most common monogenic cause of neural tube defects, is an autosomal recessive disorder characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalcoele), hepatic ductal dysplasia and cysts, and polydactyly. Locus heterogeneity has been demonstrated by the mapping of the MKS1locus to 17q21-24 in Finnish kindreds, and of MKS2 to 11q13 in North African-Middle Eastern cohorts. In the present study, we have investigated the genetic basis of MKS in eight consanguineous kindreds, originating from the Indian sub-continent, that do not show linkage to either MKS1 or MKS2. We report the localisation of a third MKS locus ( MKS3) to chromosome 8q24 in this cohort by a genome-wide linkage search using autozygosity mapping. We identified a 26-cM region of autozygosity between D8S586 and D8S1108 with a maximum cumulative two-point LOD score at D8S1179 ( Z(max)=3.04 at theta=0.06). A heterogeneity test provided evidence of one unlinked family. Exclusion of this family from multipoint analysis maximised the cumulative multipoint LOD score at locus D8S1128 ( Z(max)=5.65). Furthermore, a heterozygous SNP in DDEF1, a putative candidate gene, suggested that MKS3 mapped within a 15-cM interval. Comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2-linked kindreds suggests that polydactyly (and possibly encephalocele) appear less common in MKS3-linked families.

  19. Amyloidoma Involving the Orbit, Meckel's Cave and Infratemporal Fossa: 3T MRI Findings.

    PubMed

    Menetti, F; Bartolomei, I; Ambrosini-Spaltro, A; Salvi, F; Agati, R; Leonardi, M

    2009-03-23

    Amyloidoma is a rare lesion characterized by tissue deposition of an abnormal fibrillary protein (amyloid). It is the focal and localized counterpart of systemic amyloidosis, where the deposition of amyloid diffusely involves several organs. The few literature reports of intracranial amyloidomas include lesions involving the pituitary gland, orbit, cerebral hemispheres, temporal bone, cerebellopontine angle and jugular foramen. We describe the case of a 27-year-old woman presenting with painless slowly progressive proptosis of the right eye. The patient underwent a contrast-enhanced CT study of the head, followed by 3T MRI which disclosed a homogeneous mass in the right Meckel's cave and cavernous sinus, extending through an enlarged foramen ovale to the infratemporal fossa. The right optic nerve and ocular muscles were enlarged and infiltrated along with the retrobulbar fat by contrast-enhancing tissue. Thin contrast-enhanced MRI scans through the area of interest showed the mass to extend posterior to the gasserian ganglion, involving the cerebellopontine angle cistern, where the intracisternal parts of the III, V, and VI nerves bilaterally appeared enlarged and showed perineural enhancement. The lesion closely mimicked a malignant tumor with perineural tumor infiltration, so we performed fine needle biopsy of the portion of the lesion near the right foramen ovale under fluoroscopic guidance. Histopathology revealed that the lesion was an amyloidoma. Further clinical and blood examinations, serum chemistry, followed by biopsy of the periumbilical fat showed no signs of systemic amyloidosis or an underlying inflammatory or neoplastic disorder. No further treatment was instituted, follow-up MRI six months later showed no enlargement of the mass.

  20. Disruption of a ciliary B9 protein complex causes Meckel syndrome.

    PubMed

    Dowdle, William E; Robinson, Jon F; Kneist, Andreas; Sirerol-Piquer, M Salomé; Frints, Suzanna G M; Corbit, Kevin C; Zaghloul, Norann A; Zaghloul, Norran A; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E; Zerres, Klaus; Reed, Randall R; Attié-Bitach, Tania; Johnson, Colin A; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F

    2011-07-15

    Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein, B9d1. Mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction. These data prompted us to screen MKS patients for mutations in B9D1 and B9D2. We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. Unlike wild-type B9D2 mRNA, the p.Ser101Arg mutation failed to rescue zebrafish phenotypes induced by the suppression of b9d2. With coimmunoprecipitation and mass spectrometric analyses, we found that Mks1, B9d1, and B9d2 interact physically, but that the p.Ser101Arg mutation abrogates the ability of B9d2 to interact with Mks1, further suggesting that the mutation compromises B9d2 function. Our data indicate that B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization and that B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes MKS. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  1. Venous drainage from the developing human base of mandible including Meckel's cartilage: the so-called Serres' vein revisited.

    PubMed

    Rodríguez-Vázquez, José Francisco; Verdugo-López, Samuel; Murakami, Gen

    2011-09-01

    The present study describes the venous drainage, especially, that via the so-called Serres' vein, from border areas between two different types of ossifications: the endochondral ossification of Meckel's cartilage in close topographical relation with the membranous ossification of the mandible. Frontal and transverse sections of 25 human fetuses between 8 and 16 weeks of post-conception development. All sections were stained with hematoxylin, and eosin and azan. At 9 weeks, a distinct vein (Serres' vein) is seen originating from the endochondral ossification of Meckel's cartilage. At 11 weeks, the vein collects blood sinusoids from both the endochondral and membranous ossification areas. At 12 weeks the vein accompanies a definite bony canal, the Serres' canal. The vein does not extend anteriorly beyond a level of the deciduous canine germ that was located anterior to the mental foramen. Notably, up to 12 weeks, the vein becomes clearly isolated from the inferior alveolar nerve, artery, and vein. Serres' vein seems to be a unique drainage route of ossification, not of the tooth germ, and is similar to veins at the usual diaphysis of a long bone. Although the Serres' canal had been termed "canal of the deciduous dentition", there appears to be no topographical relation with deciduous germs.

  2. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

    PubMed

    Paavola, P; Salonen, R; Weissenbach, J; Peltonen, L

    1995-10-01

    Autosomal recessive Meckel syndrome (OMIM 249000) (MES), first described in 1822 by Johann F. Meckel, is a major monogenic malformation syndrome with a neural tube defect leading to death of the fetus in utero or shortly after birth. The hallmarks of the syndrome are occipital meningoencephalocele, very large kidneys with multicystic dysplasia, cystic and fibrotic changes of the liver and polydactyly (Fig. 1). Other typical malformations for MES are cleft lip and palate, urinary tract anomalies, ambiguous genitals in the males and club feet. Although MES has been reported worldwide, reports on the true birth prevalence of MES in different populations are scarce. In Finland MES is effectively screened and relatively frequent with a birth prevalence of 1:9,000 and a disease gene frequency of 0.01 (ref.4) which is of the same order of magnitude as that of the most common recessive diseases belonging to the 'Finnish disease heritage', that is genetic disorders enriched or only encountered in Finland. However, in MES, comparable or even higher incidences are also reported from other populations. Here, we report the assignment of the MES locus to chromosome 17q21-q24 in the 13 cM region, and exclude some of the potential candidate genes located in this critical chromosomal region.

  3. [Involvement of tissue interaction between cranial neural crest cells, their pathways lateral to the midbrain hindbrain border and the buccopharyngeal membrane in Meckel's cartilage formation in avian embryos].

    PubMed

    Imai, Hajime

    2012-03-01

    Cranial neural crest cells migrate to the craniofacial primordia and differentiate into skeletal tissues of the jaw such as Meckel's cartilage. It has not been clearly demonstrated how neural crest cells are committed to differentiate into these tissues. In this study, the conditions that are required for the formation of Meckel's cartilage were investigated. In situ hybridization in chick embryos indicated that Fgf8 and Shh involved in the pattern formation of limb cartilages were expressed in the neural tube of the midbrain-hindbrain border, the buccopharyngeal membrane and the oro-proximal site of the 1st branchial arch (oro-proximal BA1). Cell-tracing with DiI confirmed that the neural crest cells derived from both the posterior midbrain and rhombomere 1 migrated to the buccopharyngeal membrane, which subsequently forms oro-proximal BA1, by passing through the mesenchyme lateral to the midbrain-hindbrain boundary. Based on the above results, we carried out two types of ectopic transplantation experiments by chick-quail chimera The graft of oro-proximal BA1, the complex of epithelium and mesenchyme, formed a Meckel's cartilage-like structure in a self-differentiation manner, whereas neither epithelium only nor mesenchyme formed any elongated cartilage. The ectopic transplant of the buccopharyngeal membrane into the mesenchyme lateral to the neural tube of the mid-hindbrain border in which neural crest cells were migrating formed a Meckel's cartilage-like structure. These results suggest that the cranial neural crest cells derived from the mid-hindbrain region are committed to the cell fate during migration, and receive further signaling to differentiate into Meckel's cartilage in their destination.

  4. Zenker's diverticula: feasibility of a tailored approach based on diverticulum size.

    PubMed

    Rizzetto, Christian; Zaninotto, Giovanni; Costantini, Mario; Bottin, Raffaele; Finotti, Elena; Zanatta, Lisa; Guirroli, Emanuela; Ceolin, Martina; Nicoletti, Loredana; Ruol, Alberto; Ancona, Ermanno

    2008-12-01

    Zenker's diverticula (ZD) can be treated by transoral diverticulostomy or open surgery (upper esophageal sphincter myotomy and diverticulectomy or diverticulopexy). The aim of this study was to compare the effectiveness of a minimally invasive (group A) versus a traditional open surgical approach (group B) in the treatment of ZD. Between 1993 and September 2007, 128 ZD patients underwent transoral diverticulostomy (n = 51) or cricopharyngeal myotomy and diverticulectomy or diverticulopexy (n = 77). All patients were evaluated for symptoms using a detailed questionnaire. Manometry recorded upper esophageal sphincter (UES) pressure, relaxations, and intrabolus pharyngeal pressure. The size of the pouch was measured on the barium swallow. The choice of treatment was based on the size of the diverticulum and the patients' preference. Long-term follow-up data were available for 121/128 (94.5%) patients with a median follow-up of 40 months (interquartile range, 17-83). Mortality was nil. Three patients in group A (5.8%) and ten in group B (13%) had postoperative complications (p = n.s.). Hospital stays were markedly shorter for patients after diverticulostomy (p < 0.01). Postoperative manometry showed a reduction in UES pressure, improved UES relaxation, and lower intrabolus pressure in both groups (p < 0.05). Four patients in the open surgery group (5.2%) complained of severe dysphagia after surgery (three of them required endoscopic dilations). In the transoral diverticulostomy group, 11 patients (21.5%) required additional septal reduction (n = 8) or a surgical myotomy (n = 3) for persistent symptoms (p < 0.01); nine of these 11 patients had a ZD < or = 3 cm in size. After primary and complementary treatments, symptoms disappeared or improved significantly at long-term follow-up in 93.5% of patients in group A and 96% of those in group B. Diverticulostomy is safe, quick, and effective for most patients with medium-sized ZD, but open surgery offers better long

  5. Usefulness of the Hook knife in flexible endoscopic myotomy for Zenker’s diverticulum

    PubMed Central

    Rouquette, Olivier; Abergel, Armando; Mulliez, Aurélien; Poincloux, Laurent

    2017-01-01

    AIM To investigate the outcome of flexible endoscopic myotomy performed with the Hook knife in patients with symptomatic Zenker’s diverticulum (ZD). METHODS All consecutive patients treated for ZD at our institution between 7/2012 and 12/2016 were included. The flexible endoscopic soft diverticuloscope-assisted technique with endoclips placement and Hook knife myotomy were performed in all patients. Here we report a retrospective review of prospectively collected data. Demographics, dysphagia score (Dakkak and Bennett), associated symptoms and adverse events were collected pre-procedure, at 2 and 6 mo post-procedure, and at the end of the follow-up period. Clinical success was defined as at least 1-point improvement in dysphagia score and a residual dysphagia score ≤ 1, with no need for reintervention. Dysphagia scores were compared before treatment and at end-of-follow-up using the Wilcoxon test. RESULTS Twenty-four patients were included. Mean size of ZD was 3.0 cm (range 2-8 cm). Mean number of sessions was 1.17/patient (range 1-3 sessions). Overall clinical success was 91.7%. Two adverse events (8.3%) occurred, and both were managed conservatively. No bleeding or perforation was reported. Mild pain was reported by 9 patients (37.5%). Median hospital stay was 1 d (range 1-6). Median follow-up was 19.5 mo (range 6-53). Mean ± SD dysphagia score was 2.25 ± 0.89 before treatment and decreased to 0.41 ± 0.92 at end-of-follow-up (P < 0.001). Regurgitation and cough dropped from 91.7% and 50% to 12.5% and 0% at the end of follow-up, respectively. Recurrence was observed in 3 patients, and all 3 were symptom-free after one more session. CONCLUSION The Hook knife, used in the soft diverticuloscope-assisted technique setting, is efficient and safe for treatment of ZD. PMID:28874962

  6. Successful side-viewing endoscopic hemoclipping for Dieulafoy-like lesion at the brim of a periampullary diverticulum

    PubMed Central

    2010-01-01

    Background Duodenal Dieulafoy's lesions are rare and only several cases were reported so far. Their characteristic appearance and location make it difficult to be diagnosed in the clinical practice. Massive bleeding often results from these lesions and can impede the accurate early treatment. Case presentation 67 years old male patient suffered a fatal bleeding from Dieulafoy-like lesion located at the mouth of the periampullary diverticulum. Inintial endoscopic therapy and radiologic embolization failed to stop the bleeding, while direct observation and hemoclipping by the side viewing endoscopy successfully established correct diagnosis and permanent cure of the lesion. Conclusion Aggressive endoscopic examinations combined with the accurate endoscopic threatment should be adopted when Dieulafoy-like lesion is suspected as a possible cause of the proximal small bowel hemorrahge. Verification of the diagnosis and definitive treatment often needed repeated examination by side-viewing endoscope as well as stabilization of the patient. PMID:20178576

  7. Resection of Kommerell Diverticulum After the Arterial Switch for TGA With Bilateral PDAs and Right Aortic Arch.

    PubMed

    Ochiai, Yoshie; Joo, Kunihiko; Onzuka, Tatsushi; Nakashima, Atsuhiro; Nagatomo, Yusaku; Watanabe, Mamie; Muneuchi, Jun

    2016-10-01

    We present a very rare case of bilateral ductus arteriosus in transposition of the great arteries with right aortic arch and aberrant retroesophageal left subclavian artery (SCA). Around 1 month after the successful arterial switch operation, the baby showed wheezing and retractive breathing. The computed tomography revealed that trachea and esophagus were sandwiched between the posterior displaced ascending aorta and the origin of the retroesophageal aberrant left SCA, the so-called Kommerell diverticulum (KD). This compression was successfully relieved by resection of the KD and division of the retroesophageal aberrant SCA through right thoracotomy. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  8. Operative treatment of tetralogy of Fallot with concomitant correction of anomalous origin of the left pulmonary artery from Kommerell's diverticulum

    PubMed Central

    Juscinski, Jacek; Haponiuk, Ireneusz; Chojnicki, Maciej; Steffens, Mariusz; Szofer-Sendrowska, Aneta; Kwasniak, Ewelina; Żelechowski, Pawel

    2014-01-01

    Anomalies in development of the pulmonary valve, pulmonary trunk and peripheral pulmonary arteries are typical accompanying pathologies in patients with tetralogy of Fallot (ToF). Demanding for diagnostics and borderline for treatment is a condition colloquially called “discontinuous pulmonary arteries”, while the main branches are supplied with systemic blood from the ascending aorta, aortic arch or descending thoracic aorta. We present a case of a one-year-old girl with ToF and anomalous origin of the left pulmonary artery (LPA) from Kommerell's diverticulum who underwent two-stage surgical therapy with the support of interventional cardiology. We conclude that early diagnosis of discontinuous pulmonary artery is crucial for choosing the optimal operative strategy. In our opinion, simultaneous anatomic intracardiac correction with direct pulmonary reconstruction seems reasonable and effective, particularly when the result is achieved after joint efforts of cardiac surgery and interventional cardiology. PMID:26336445

  9. Traumatic tracheal diverticulum corrected with resection and anastomosis during one-lung ventilation and total intravenous anesthesia in a cat.

    PubMed

    Sayre, Rebecca S; Lepiz, Mauricio; Wall, Corey; Thieman-Mankin, Kelley; Dobbin, Jennifer

    2016-11-01

    This report describes the clinical findings and diagnostic images of a traumatic intrathoracic tracheal avulsion with a tracheal diverticulum in a cat. Furthermore, a complete description of the tracheal resection and anastomosis using one-lung ventilation (OLV) with total and partial intravenous anesthesia is made. A 3-year-old neutered male domestic shorthair cat weighing 6.8 kg was presented to the University Teaching Hospital for evaluation of increased respiratory noise 3 months following unknown trauma. Approximately 12 weeks prior to presentation, the cat had been seen by the primary care veterinarian for respiratory distress. At that time, the cat had undergone a tracheal ballooning procedure for a distal tracheal stricture diagnosed by tracheoscopy. The tracheal ballooning had provided only temporary relief. At presentation to our institution, the cat had increased respiratory effort with harsh upper airway noise auscultated during thoracic examination. The remainder of the physical examination was normal. Diagnostics included a tracheoscopy and a thoracic computed tomographic examination. The cat was diagnosed with tracheal avulsion, pseudotrachea with a tracheal diverticulum, and stenosis of the avulsed tracheal ends. Surgical correction of the tracheal stricture via a thoracotomy was performed using OLV with total and partial intravenous anesthesia. The cat recovered uneventfully and at last follow-up was active and doing well. This case report describes OLV using standard anesthesia equipment that is available at most private practices. Furthermore, this case describes the computed tomographic images of the intrathoracic tracheal avulsion and offers a positive outcome for tracheal resection and anastomosis. © Veterinary Emergency and Critical Care Society 2015.

  10. [A young child with acute abdomen and iron deficiency anemia].

    PubMed

    Schlapbach, L; Liniger, B; Schibli, S; Cholewa, D

    2006-05-31

    The case of a 20 month-old girl that was admitted to the emergency ward because of worsening of her general condition in the setting of acute non-bloody gastroenteritis is reported. The clinical examination revealed signs of severe dehydration and a prominent tender abdomen. Laboratory evaluation showed leucocytosis, elevated C-reactive protein and severe hypochromic microcytic anemia. Abdominal X-ray revealed diffuse meteorism. The child underwent laparascopic evaluation. A perforated Meckel's diverticulum was found. Perforation and anemia due to occult bleeding are unusual presentations of Meckel's diverticulum. The differential diagnosis of children presenting with an acute abdomen with special focus on Meckel's diverticulum is discussed.

  11. Primary high-grade serous carcinoma arising in the urethra or urethral diverticulum: a report of 2 cases of an extremely rare phenomenon.

    PubMed

    Flynn, Ciaran; Oxley, Jon; McCullagh, Paul; McCluggage, W Glenn

    2013-01-01

    Serous carcinomas most commonly arise within the uterine corpus or ovary/fallopian tube, but there are 2 prior case reports of primary vaginal serous carcinoma. We report 2 examples of high-grade serous carcinoma arising within the urethra or a urethral diverticulum (1 case each). Both neoplasms exhibited the classic morphologic features of high-grade serous carcinoma, and a combination of clinical, radiologic, and pathologic examination excluded other possible sites of primary neoplasm.

  12. Acceleration of the meckel syndrome by near-infrared light therapy.

    PubMed

    Lim, Jinhwan; Gattone, Vincent H; Sinders, Rachel; Miller, Caroline A; Liang, Yun; Harris, Peter; Watkins, John B; Henshel, Diane S

    2011-01-01

    Phototherapy using a narrow-band, near-infrared (NIR) light (using a light-emitting diode, LED) is being used to treat certain medical conditions. This narrow-band red light has been shown to stimulate cytochrome c oxidase (CCO) in mitochondria that would stimulate ATP production and has the ability to stimulate wound healing. LED treatment also decreases chemical-induced oxidative stress in tested systems. As renal cystic diseases are known to have evidence of oxidative stress with reduced antioxidant protection, we hypothesized that NIR light therapy might ameliorate the renal pathology in renal cystic disease. Wistar-Wpk/Wpk rats with Meckel syndrome (MKS) were treated with light therapy on days 10-18 at which time disease severity was evaluated. Wpk rats were either treated daily for 80 s with narrow-band red light (640-690 nm wavelength) or sham treated. At termination, renal and cerebral pathology was evaluated, and renal expression and activity of enzymes were assessed to evaluate oxidative stress. Blood was collected for blood urea nitrogen (BUN) determination, the left kidney frozen for biochemical evaluation, and the right kidney and head fixed for morphological evaluation. There were no significant effects of LED treatment on body weight (BW) or total kidney weight in non-cystic rats. Total kidney weight was increased and anephric BW was decreased in cystic versus non-cystic controls. LED reduced BW and total kidney weight in cystic rats compared to non-light-treated cystic (control) rats. BUN was already increased almost 6-fold in cystic rats compared to control rats. BUN was further increased almost 2-fold with NIR treatment in both non-cystic and cystic rats compared to cystic and control rats. The hydrocephalus associated with Wpk/Wpk (ventricular volume expressed as total volume and as percent of anephric BW) was also more severe in NIR-treated cystic rats compared to the normal control rats. Renal glutathione peroxidase and catalase (CAT) were

  13. Study of the malformation of ductal plate of the liver in Meckel syndrome and review of other syndromes presenting with this anomaly.

    PubMed

    Sergi, C; Adam, S; Kahl, P; Otto, H F

    2000-01-01

    Meckel syndrome (MIM 249.000) is an autosomal recessive disorder with a variable spectrum of anomalies. Since the first reports of this syndrome, very broad diagnostic criteria have been proposed, but the process of defining them continues. It is probable that at least two of three manifestations, including cystic kidney dysplasia, occipital encephalocele or other anomaly of the central nervous system, and postaxial polydactyly occur in most cases. Arrest of the development of intrahepatic bile ducts at the stage of the bilaminar plate formation or ductal plate malformation is considered of high diagnostic value in Meckel syndrome, but there is no complete agreement in the literature about its occurrence. The aims of this investigation were to study the prevalence and morphologic patterns of ductal plate malformation of the liver in Meckel syndrome by evaluating the dilatation of primitive biliary structures and the increase in connective tissue of the portal tract. Archival data files from four German centers (Berlin, Freiburg, Heidelberg, Mainz) were reviewed. Liver sections of 30 well-studied fetuses with Meckel syndrome were immunostained with antibodies against cytokeratins (intermediate filaments of the cytoskeleton) and factor VIII (an endothelial cell marker) and were evaluated both qualitatively and quantitatively. Cystic kidney dysplasia, occipital encephalocele, and postaxial polydactyly were found in 100%, 90%, and 83.3% of the fetuses, respectively. Ductal plate malformation of the liver was a constant anomaly in Meckel syndrome, seen as frequently as renal lesions. We observed essentially two kinds of hepatic lesions: 23 cases showed mainly a cystic dilatation of primitive biliary structures with little portal fibrosis, while 7 cases showed mainly rings of interrupted curved lumina around a central fibrovascular axis and pronounced portal fibrosis. In these seven cases an abnormal pattern of the portal vein, with many small and closely spaced branches

  14. Incidental finding of carcinoid tumor on Meckel’s diverticulum: case report and literature review, should prophylactic resection be recommended?

    PubMed Central

    2014-01-01

    Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract and is caused by incomplete obliteration of the vitelline duct during intrauterine life. MD affects less than 2% of the population. In most cases, MD is asymptomatic and the estimated average complication risk of MD carriers, which is inversely proportional to age, ranges between 2% and 4%. The most common MD-related complications are gastrointestinal bleeding, intestinal obstruction and acute phlogosis. Excision is mandatory in the case of symptomatic diverticula regardless of age, while surgical treatment for asymptomatic diverticula remains controversial. According to the majority of studies, the incidental finding of MD in children is an indication for surgical resection, while the management of adults is not yet unanimous. In this case report, we describe the prophylactic resection of an incidentally detected MD, which led to the removal of an occult mucosal carcinoid tumor. In literature, the association of MD and carcinoid tumor is reported as a rare finding. Even though the strategy for adult patients of an incidental finding of MD during surgery performed for other reasons divides the experts, we recommend prophylactic excision in order to avoid any further risk. PMID:24884768

  15. Hybrid repair of penetrating aortic ulcer associated with right aortic arch and aberrant left innominate artery arising from aneurysmal Kommerell's diverticulum with simultaneous repair of bilateral common iliac artery aneurysms.

    PubMed

    Guo, Yuanyuan; Yang, Bin; Cai, Hongbo; Jin, Hui

    2014-02-01

    We present the first case of a hybrid endovascular approach to a penetrating aortic ulcer on the left descending aorta with a right aortic arch and aberrant left innominate artery arising from an aneurysmal Kommerell's diverticulum. The patient also had bilateral common iliac artery aneurysms. The three-step procedure consisted of a carotid-carotid bypass, followed by endovascular exclusion of the ulcer and the aneurysmal Kommerell's diverticulum, and then completion by covering the iliac aneurysms. The patient had no complications at 18 months after surgery. In such rare configurations, endovascular repair is a safe therapeutic option.

  16. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

    PubMed

    Mougou-Zerelli, Soumaya; Thomas, Sophie; Szenker, Emmanuelle; Audollent, Sophie; Elkhartoufi, Nadia; Babarit, Candice; Romano, Stéphane; Salomon, Rémi; Amiel, Jeanne; Esculpavit, Chantal; Gonzales, Marie; Escudier, Estelle; Leheup, Bruno; Loget, Philippe; Odent, Sylvie; Roume, Joëlle; Gérard, Marion; Delezoide, Anne-Lise; Khung, Suonavy; Patrier, Sophie; Cordier, Marie-Pierre; Bouvier, Raymonde; Martinovic, Jéléna; Gubler, Marie-Claire; Boddaert, Nathalie; Munnich, Arnold; Encha-Razavi, Férechté; Valente, Enza Maria; Saad, Ali; Saunier, Sophie; Vekemans, Michel; Attié-Bitach, Tania

    2009-11-01

    Meckel-Gruber syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele, and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting cerebellar vermian hypoplasia/dysplasia. Both conditions are classified as ciliopathies with an autosomal recessive mode of inheritance. Allelism of MKS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5. Recently, one homozygous splice mutation with a founder effect was reported in the CC2D2A gene in Finnish fetuses with MKS, defining the 6th locus for MKS. Shortly thereafter, CC2D2A mutations were also reported in JBS. The analysis of the CC2D2A gene in our series of MKS fetuses, identified 14 novel truncating mutations in 11 cases. These results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease. We also identified three missense CC2D2A mutations in two JBS cases. Therefore, and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS.

  17. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.

    PubMed

    Zhang, Manli; Cheng, Jing; Liu, Aijun; Wang, Longxia; Xiong, Lihua; Chen, Meixia; Sun, Yi; Li, Jianzhong; Lu, Yu; Yuan, Huijun; Li, Yali; Lu, Yanping

    2015-01-01

    Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. Hha I restriction analysis demonstrated that the c.1645C>T mutation was absent in 200 unrelated control chromosomes of Chinese background, supporting the hypothesis that it represents causative mutation, not rare polymorphism. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype understanding of MKS.

  18. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.

    PubMed

    Shaheen, Ranad; Faqeih, Eissa; Alshammari, Muneera J; Swaid, Abdulrahman; Al-Gazali, Lihadh; Mardawi, Elham; Ansari, Shinu; Sogaty, Sameera; Seidahmed, Mohammed Z; AlMotairi, Muhammed I; Farra, Chantal; Kurdi, Wesam; Al-Rasheed, Shatha; Alkuraya, Fowzan S

    2013-07-01

    Meckel-Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. Despite the relatively common occurrence of this syndrome among Arabs, little is known about its genetic architecture in this population. This is a series of 18 Arab families with MKS, who were evaluated clinically and studied using autozygome-guided mutation analysis and exome sequencing. We show that autozygome-guided candidate gene analysis identified the underlying mutation in the majority (n=12, 71%). Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes. These include C5orf42, Ellis-van-Creveld disease gene EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis. This is the largest and most comprehensive genomic study on MKS in Arabs and the results, in addition to revealing genetic and allelic heterogeneity, suggest that previously reported disease genes and the novel candidates uncovered by this study account for the overwhelming majority of MKS patients in our population.

  19. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).

    PubMed

    Lu, Yanping; Peng, Hongmei; Jin, Zhanguo; Cheng, Jing; Wang, Shufang; Ma, Minyue; Lu, Yu; Han, Dongyi; Yao, Yuanqing; Li, Yali; Yuan, Huijun

    2013-01-01

    Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

  20. Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.

    PubMed

    Wang, Mei; Bridges, James P; Na, Cheng-Lun; Xu, Yan; Weaver, Timothy E

    2009-11-27

    Autosomal dominant mutations in the SFTPC gene are associated with idiopathic pulmonary fibrosis, a progressive lethal interstitial lung disease. Mutations that cause misfolding of the encoded proprotein surfactant protein C (SP-C) trigger endoplasmic reticulum (ER)-associated degradation, a pathway that segregates terminally misfolded substrate for retrotranslocation to the cytosol and degradation by proteasome. Microarray screens for genes involved in SP-C ER-associated degradation identified MKS3/TMEM67, a locus previously linked to the ciliopathy Meckel-Gruber syndrome. In this study, MKS3 was identified as a membrane glycoprotein predominantly localized to the ER. Expression of MKS3 was up-regulated by genetic or pharmacological inducers of ER stress. The ER lumenal domain of MKS3 interacted with a complex that included mutant SP-C and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic p97. Deletion of the transmembrane and cytosolic domains abrogated interaction of MKS3 with p97 and resulted in accumulation of mutant SP-C proprotein; knockdown of MKS3 also inhibited degradation of mutant SP-C. These results support a model in which MKS3 links the ER lumenal quality control machinery with the cytosolic degradation apparatus.

  1. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

    PubMed

    Dawe, Helen R; Smith, Ursula M; Cullinane, Andrew R; Gerrelli, Dianne; Cox, Phillip; Badano, Jose L; Blair-Reid, Sarah; Sriram, Nisha; Katsanis, Nicholas; Attie-Bitach, Tania; Afford, Simon C; Copp, Andrew J; Kelly, Deirdre A; Gull, Keith; Johnson, Colin A

    2007-01-15

    Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia, central nervous system malformations (typically, posterior occipital encephalocele), and hepatic developmental defects. Two MKS genes, MKS1 and MKS3, have been identified recently. The present study describes the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes. In situ hybridization studies for MKS3 in early human embryos showed transcript localizations in agreement with the tissue phenotype of MKS patients. Both MKS proteins predominantly localized to epithelial cells, including proximal renal tubules and biliary epithelial cells. MKS1 localized to basal bodies, while meckelin localized both to the primary cilium and to the plasma membrane in ciliated cell-lines and primary cells. Meckelin protein with the Q376P missense mutation was unable to localize at the cell membrane. siRNA-mediated reduction of Mks1 and Mks3 expression in a ciliated epithelial cell-line blocked centriole migration to the apical membrane and consequent formation of the primary cilium. Co-immunoprecipitation experiments show that wild-type meckelin and MKS1 interact and, in three-dimensional tissue culture assays, epithelial branching morphogenesis was severely impaired. These results suggest that MKS proteins mediate a fundamental developmental stage of ciliary formation and epithelial morphogenesis.

  2. Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.

    PubMed

    Taweevisit, Mana; Treetipsatit, Jitsupa; Tantbirojn, Patou; Thorner, Paul Scott

    2009-01-01

    Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature.

  3. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China

    PubMed Central

    Zhang, Manli; Cheng, Jing; Liu, Aijun; Wang, Longxia; Xiong, Lihua; Chen, Meixia; Sun, Yi; Li, Jianzhong; Lu, Yu; Yuan, Huijun; Li, Yali; Lu, Yanping

    2015-01-01

    Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. Hha I restriction analysis demonstrated that the c.1645C>T mutation was absent in 200 unrelated control chromosomes of Chinese background, supporting the hypothesis that it represents causative mutation, not rare polymorphism. Our data provide additional molecular and clinical information for establishing a better genotype-phenotype understanding of MKS. PMID:26191240

  4. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

    PubMed

    Smith, Ursula M; Consugar, Mark; Tee, Louise J; McKee, Brandy M; Maina, Esther N; Whelan, Shelly; Morgan, Neil V; Goranson, Erin; Gissen, Paul; Lilliquist, Stacie; Aligianis, Irene A; Ward, Christopher J; Pasha, Shanaz; Punyashthiti, Rachaneekorn; Malik Sharif, Saghira; Batman, Philip A; Bennett, Christopher P; Woods, C Geoffrey; McKeown, Carole; Bucourt, Martine; Miller, Caroline A; Cox, Phillip; Algazali, Lihadh; Trembath, Richard C; Torres, Vicente E; Attie-Bitach, Tania; Kelly, Deirdre A; Maher, Eamonn R; Gattone, Vincent H; Harris, Peter C; Johnson, Colin A

    2006-02-01

    Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital encephalocele), hepatic ductal dysplasia and cysts and polydactyly. MKS is genetically heterogeneous, with three loci mapped: MKS1, 17q21-24 (ref. 4); MKS2, 11q13 (ref. 5) and MKS3 (ref. 6). We have refined MKS3 mapping to a 12.67-Mb interval (8q21.13-q22.1) that is syntenic to the Wpk locus in rat, which is a model with polycystic kidney disease, agenesis of the corpus callosum and hydrocephalus. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. MKS3 is a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression. It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin.

  5. Meckel-Gruber Syndrome Protein MKS3 Is Required for Endoplasmic Reticulum-associated Degradation of Surfactant Protein C*

    PubMed Central

    Wang, Mei; Bridges, James P.; Na, Cheng-Lun; Xu, Yan; Weaver, Timothy E.

    2009-01-01

    Autosomal dominant mutations in the SFTPC gene are associated with idiopathic pulmonary fibrosis, a progressive lethal interstitial lung disease. Mutations that cause misfolding of the encoded proprotein surfactant protein C (SP-C) trigger endoplasmic reticulum (ER)-associated degradation, a pathway that segregates terminally misfolded substrate for retrotranslocation to the cytosol and degradation by proteasome. Microarray screens for genes involved in SP-C ER-associated degradation identified MKS3/TMEM67, a locus previously linked to the ciliopathy Meckel-Gruber syndrome. In this study, MKS3 was identified as a membrane glycoprotein predominantly localized to the ER. Expression of MKS3 was up-regulated by genetic or pharmacological inducers of ER stress. The ER lumenal domain of MKS3 interacted with a complex that included mutant SP-C and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic p97. Deletion of the transmembrane and cytosolic domains abrogated interaction of MKS3 with p97 and resulted in accumulation of mutant SP-C proprotein; knockdown of MKS3 also inhibited degradation of mutant SP-C. These results support a model in which MKS3 links the ER lumenal quality control machinery with the cytosolic degradation apparatus. PMID:19815549

  6. Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3)

    PubMed Central

    Cheng, Jing; Wang, Shufang; Ma, Minyue; Lu, Yu; Han, Dongyi; Yao, Yuanqing; Li, Yali; Yuan, Huijun

    2013-01-01

    Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks’ gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks’ gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle. PMID:24039893

  7. An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

    PubMed

    Stayner, C; Poole, C A; McGlashan, S R; Pilanthananond, M; Brauning, R; Markie, D; Lett, B; Slobbe, L; Chae, A; Johnstone, A C; Jensen, C G; McEwan, J C; Dittmer, K; Parker, K; Wiles, A; Blackburne, W; Leichter, A; Leask, M; Pinnapureddy, A; Jennings, M; Horsfield, J A; Walker, R J; Eccles, M R

    2017-05-09

    Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence. In contrast to primary cilia of relatively consistent length and morphology in unaffected kidney cells, those of affected cyst-lining cells displayed a range of short and extremely long cilia, as well as abnormal morphologies, such as bulbous regions along the axoneme. Putative cilia fragments were also consistently located within the cyst luminal contents. The abnormal ciliary phenotype was further confirmed in cultured interstitial fibroblasts from affected kidneys. These primary cilia dysmorphologies and length control defects were significantly greater in affected cells compared to unaffected controls. In conclusion, we describe abnormalities involving primary cilia length and morphology in the first reported example of a large animal model of MKS, in which we have identified TMEM67 mutations.

  8. Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle

    PubMed Central

    Tallila, Jonna; Jakkula, Eveliina; Peltonen, Leena; Salonen, Riitta; Kestilä, Marjo

    2008-01-01

    Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs). Recent findings have shown primary cilia dysfunction in the molecular background of MKS, indicating that cilia are critical for early human development. However, even though four genes behind MKS have been identified to date, they elucidate only a minor proportion of the MKS cases. In this study, instead of traditional linkage analysis, we selected 10 nonrelated affected fetuses and looked for the homozygous regions shared by them. Based on this strategy, we identified the sixth locus and the fifth gene, CC2D2A (MKS6), behind MKS. The biological function of CC2D2A is uncharacterized, but the corresponding polypeptide is predicted to be involved in ciliary functions and it has a calcium binding domain (C2). Immunofluorescence staining of patient's fibroblast cells demonstrates that the cells lack cilia, providing evidence for the critical role of CC2D2A in cilia formation. Our finding is very significant not only to understand the molecular background of MKS, but also to obtain additional information about the function of the cilia, which can help to understand their significance in normal development and also in other ciliopathies, which are an increasing group of disorders with overlapping phenotypes. PMID:18513680

  9. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.

    PubMed

    Aguilar, Andrea; Meunier, Alice; Strehl, Laetitia; Martinovic, Jelena; Bonniere, Maryse; Attie-Bitach, Tania; Encha-Razavi, Féréchté; Spassky, Nathalie

    2012-10-16

    Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia to aplasia. Interestingly, ciliary conditional mutant mice have a hypoplastic cerebellum in which the proliferation of cerebellar granule cell progenitors (GCPs) in response to Sonic hedgehog (SHH) is severely reduced. This suggests that Shh signaling defects could contribute to the vermis hypoplasia observed in the human syndromes. As existing JS/MKS mutant mouse models suggest apparently contradictory hypotheses on JS/MKS etiology, we investigated Shh signaling directly on human fetal samples. First, in an examination of human cerebellar development, we linked the rates of GCP proliferation to the different levels and localizations of active Shh signaling and showed that the GCP possessed a primary cilium with CEP290 at its base. Second, we found that the proliferation of GCPs and their response to SHH were severely impaired in the cerebellum of subjects with JS/MKS and Jeune syndrome. Finally, we showed that the defect in GCP proliferation was similar in the cerebellar vermis and hemispheres in all patients with ciliopathy analyzed, suggesting that the specific cause of vermal hypo-/aplasia precedes this defect. Our results, obtained from the analysis of human samples, show that the hemispheres and the vermis are affected in JS/MKS and provide evidence of a defective cellular mechanism in these pathologic processes.

  10. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

    PubMed

    Tallila, Jonna; Jakkula, Eveliina; Peltonen, Leena; Salonen, Riitta; Kestilä, Marjo

    2008-06-01

    Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs). Recent findings have shown primary cilia dysfunction in the molecular background of MKS, indicating that cilia are critical for early human development. However, even though four genes behind MKS have been identified to date, they elucidate only a minor proportion of the MKS cases. In this study, instead of traditional linkage analysis, we selected 10 nonrelated affected fetuses and looked for the homozygous regions shared by them. Based on this strategy, we identified the sixth locus and the fifth gene, CC2D2A (MKS6), behind MKS. The biological function of CC2D2A is uncharacterized, but the corresponding polypeptide is predicted to be involved in ciliary functions and it has a calcium binding domain (C2). Immunofluorescence staining of patient's fibroblast cells demonstrates that the cells lack cilia, providing evidence for the critical role of CC2D2A in cilia formation. Our finding is very significant not only to understand the molecular background of MKS, but also to obtain additional information about the function of the cilia, which can help to understand their significance in normal development and also in other ciliopathies, which are an increasing group of disorders with overlapping phenotypes.

  11. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

    PubMed

    Tammachote, Rachaneekorn; Hommerding, Cynthia J; Sinders, Rachel M; Miller, Caroline A; Czarnecki, Peter G; Leightner, Amanda C; Salisbury, Jeffrey L; Ward, Christopher J; Torres, Vicente E; Gattone, Vincent H; Harris, Peter C

    2009-09-01

    Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous with nine different genes implicated in this disorder. MKS is thought to be a ciliopathy because of the range of phenotypes and localization of some of the implicated proteins. However, limited data are available about the phenotypes associated with MKS1 and MKS3, and the published ciliary data are conflicting. Analysis of the wpk rat model of MKS3 revealed functional defects of the connecting cilium in the eye that resulted in lack of formation of the outer segment, whereas infertile wpk males developed spermatids with very short flagella that did not extend beyond the cell body. In wpk renal collecting duct cysts, cilia were generally longer than normal, with additional evidence of cells with multiple primary cilia and centrosome over-duplication. Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia. Stable shRNA knockdown of Mks1 and Mks3 in IMCD3 cells induced multi-ciliated and multi-centrosomal phenotypes. These studies demonstrate that MKS1 and MKS3 are ciliopathies, with new cilia-related eye and sperm phenotypes defined. MKS1 and MKS3 functions are required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication.

  12. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

    PubMed Central

    Mougou-Zerelli, Soumaya; Thomas, Sophie; Szenker, Emmanuelle; Audollent, Sophie; Elkhartoufi, Nadia; Babarit, Candice; Romano, Stéphane; Salomon, Rémi; Amiel, Jeanne; Esculpavit, Chantal; Gonzales, Marie; Escudier, Estelle; Leheup, Bruno; Loget, Philippe; Odent, Sylvie; Roume, Joëlle; Gérard, Marion; Delezoide, Anne-Lise; Khung, Suonavy; Patrier, Sophie; Cordier, Marie-Pierre; Bouvier, Raymonde; Martinovic, Jéléna; Gubler, Marie-Claire; Boddaert, Nathalie; Munnich, Arnold; Encha-Razavi, Férechté; Valente, Enza Maria; Saad, Ali; Saunier, Sophie; Vekemans, Michel; Attié-Bitach, Tania

    2009-01-01

    The Meckel syndrome (MKS) is a lethal fetal disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological disorder with a characteristic “molar tooth sign” (MTS) on axial images reflecting cerebellar vermian hypoplasia/dysplasia. Both conditions are classified as ciliopathies with an autosomal recessive mode of inheritance. Allelism of MS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5. Recently, one homozygous splice mutation with a founder effect was reported in the CC2D2A gene in Finnish fetuses with MKS, defining the 6th locus for MKS. Shortly thereafter, CC2D2A mutations were reported in JBS also. The analysis of the CC2D2A gene in our series of MKS fetuses, identified 14 novel truncating mutations in 11 cases. These results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease. We also identified three missense CC2D2A mutations in two JBS cases. Therefore and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS. PMID:19777577

  13. Arterial supply to the bleeding diverticulum in the ascending duodenum treated by transcatheter arterial embolization- a duodenal artery branched from the inferior pancreaticoduodenal artery.

    PubMed

    Sanda, Hiroki H; Kawai, Nobuyuki N; Sato, Morio M; Tanaka, Fumihiro F; Nakata, Kouhei K; Minamiguchi, Hiroki H; Nakai, Motoki M; Sonomura, Tetsuo T

    2014-01-01

    We present a case of endoscopically unmanageable hemorrhagic diverticulum in the ascending duodenum. The ventral and dorsal walls of the ascending duodenum were supplied from the first jejunal artery (1JA) and inferior pancreaticoduodenal artery (IPDA), respectively. The hemorrhage mainly occurred from IPDA. The abruptly branching of IPDA from superior mesenteric artery enabled successful catheterization of the IPDA with an angled microcatheter. Hemostasis was obtained by embolization using n-butyl cyanoacrylate. Gastroendoscopy depicted a duodenal hemi-circumferential ulcer. No symptoms related to hemorrhage were found at the last follow-up at 12 months.

  14. Long-term results using LigaSure™ 5 mm instrument for treatment of Zenker's diverticulum.

    PubMed

    Andersen, Michelle Fog; Trolle, Waldemar; Anthonsen, Kristian; Nielsen, Hans Ulrik; Homøe, Preben

    2017-04-01

    The purpose of the present study was to evaluate the long-term results and patient's satisfaction of a new approach using the LigaSure™ 5 mm instrument for treatment of Zenker's diverticulum (ZD) and to compare with other long-term results using traditional treatment modalities. Between December 2011 and August 2013, a total of 23 patients with ZD underwent endoscopic surgery using the LigaSure™ technique in our department. A retrospective evaluation of the surgery was based on medical records and additionally a long-term follow-up was performed using a standardized questionnaire that was send to all patients. The questions dealt with complaints according to a visual analog scale (VAS) and were sent a minimum of one year after the surgery (mean time 22 months, range 12-32 month). The overall response rate was 91%. The mean age of the patients was 69 years (range 37-89 years). The patients reported nine for overall satisfaction on the VAS (range 0-10: 10 being very content and 0 very uncontent, 25 and 75% quartiles: 7 and 10) regarding the final outcome of their surgery, although several of the patients had continuous symptoms within the first postoperative year. Eight patients (38%) reported no symptoms at all. Our results suggest that endoscopic management of ZD with the LigaSure™ 5 mm instrument is a minimally invasive, fast and safe method with solid long-term outcome with relief of symptoms and patient satisfaction. This new operative instrument was not found inferior to traditional endoscopic techniques and is now the standard treatment method for ZD in our departments.

  15. Adult left-ventricular diverticulum and patent ductus arteriosus misdiagnosed as coronary artery disease with infarct aneurysm: a case report.

    PubMed

    Qu, Hong; Liu, Tianqi; Wang, Haiyan; Wang, Dong; Li, Quan

    2015-11-14

    Left-ventricular diverticulum (LD) associated with patent ductus arteriosus (PDA) is extremely rare. We have not found any previous reports of the coexistence of these two malformations. Such an association presenting with chest pain mimicking an infarct aneurysm with angina or a takotsubo cardiomyopathy with chest pain is difficult to differentiate clinically. Here, we discuss several diseases characterized by left-ventricular apical protrusion with chest pain to familiarize clinicians with the differential diagnosis of these diseases. A 58-year-old woman was referred to our hospital because of complaints of chest pain and dyspnoea, mainly on exertion. An electrocardiograph on admission showed a q-wave in lead I, a Q-wave in lead aVL, and an abnormal T-wave in the limb leads and leads V4 to V6. A transthoracic echocardiograph revealed a PDA and a protrusion arising from the apex of the left ventricle. The diagnosis on admission was PDA and coronary artery disease with infarct aneurysm. To evaluate the source of the chest pain, further evaluations were performed. Coronary angiography showed no abnormal findings. Left ventriculography confirmed the presence of an apical contractile out-pouching. Based on these findings, we revised the diagnosis as LD associated with PDA. The patient underwent transcatheter occlusion of the PDA and was discharged 3 days later. Unexpectedly, transcatheter occlusion resolved the paroxysmal chest pain in this case. This is the first case report of LD combined with PDA. PDA should be considered in the list of differential diagnosis of chest pain. Several diseases characterized by left-ventricular apical protrusion with chest pain, such as LD, infarct aneurysm and takotsubo cardiomyopathy, can be misdiagnosed as one another. Therefore, it is important to familiarize clinicians with the differential diagnosis of these diseases.

  16. Potential Role of Tc-99m DTPA Diuretic Renal Scan in the Diagnosis of Calyceal Diverticulum in Children

    PubMed Central

    Lin, Chun-Chen; Shih, Bing-Fu; Shih, Shin-Lin; Tsai, Jeng-Daw

    2015-01-01

    Abstract The aim of the study was to assess the usefulness of Technetium-99m diethylene triamine pentaacetic acid (Tc-99m DTPA) diuretic scan to diagnose calyceal diverticulum (CD). From January 2000 to June 2014, children with evidence of renal cystic lesions of undetermined diagnosis on ultrasound were enrolled. Computed tomography urography (CTU) and Tc-99m DTPA diuretic scan were performed to characterize the precise anatomy. The diagnosis of CD depended on visualization of a renal cystic lesion with filling of contrast material or radiotracer from the collecting system on CTU or diuretic renal scan. Children who had positive findings of CD on 1 or both imaging studies were selected and analyzed. Both CTU and Tc-99m DTPA diuretic renal scan were performed in 39 children. A total of 9 (23.1 %) children with CD were diagnosed. All 9 children had positive diagnosis of CD on diuretic renal scan. Only 6 (66.7%) children could be diagnosed by CTU, and CD was missed by CTU in 3 subjects. The differential renal functions in patients with CD were 46% to 55%. The time of radiotracer appearance in the CD ranged from the 8th to the 24th minute. Seven patients had persistent accumulation of radiotracer in their CD at the end of the study. Tc-99m DTPA diuretic renal scan seems to be more sensitive than CTU in diagnosing CD. The possible reasons of higher sensitivity are discussed. Additional advantages that Tc-99m DTPA diuretic renal scan provides include the following: continuous monitoring, less radiation doses, and information on renal function, making it an attractive alternative to CTU for diagnosis of CD. PMID:26091475

  17. [Ultrasound diagnosis of Meckel-Gruber syndrome at 13 weeks of gestation in families at risk--a case report and literature review].

    PubMed

    Mazneŭkova, V; Kamenov, E; Dimitrova, L

    2002-01-01

    Meckel-Gruber syndrome (MGS) is a lethal, rare, autosomal recessive condition manifested by clinical and genetical heterogenicity. The syndrome is characterized by the triad: occipital meningo-encephalocele, cystic displastic kidneys and postaxial polidactyly. The diagnosis is suspected by ultrasound and in families at risk of reccurrence of the syndrome it is made in the late first trimester of pregnancy. We present a patient with a previous pregnancy terminated in the second trimester because of ultrasound features for MGS, in whom a correct transvaginal ultrasound diagnosis of the same syndrome was made in 13 w.g. of the present pregnancy.

  18. First systematic CGH-based analyses of ancient DNA samples of malformed fetuses preserved in the Meckel Anatomical Collection in Halle/Saale (Germany).

    PubMed

    Tönnies, H; Gerlach, A; Klunker, R; Schultka, R; Göbbel, L

    2005-03-01

    We present the first data on our comparative genomic hybridization (CGH)-based strategy for the analysis of ancient DNA (aDNA) samples extracted from fetuses preserved in the Meckel Anatomical Collection in Halle, Germany. The collection contains numerous differently fixed ancient samples of fetal malformations collected from the middle of the 18th to the early 19th century. The main objective of this study is to establish a "standard" aDNA extraction and amplification protocol as a prerequisite for successful CGH analyses to detect or exclude chromosomal imbalances possibly causative for the malformations described for the fetuses.

  19. Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

    PubMed

    Frank, Valeska; Ortiz Brüchle, Nadina; Mager, Silke; Frints, Susanna G M; Bohring, Axel; du Bois, Gabriele; Debatin, Irmgard; Seidel, Heide; Senderek, Jan; Besbas, Nesrin; Todt, Unda; Kubisch, Christian; Grimm, Tiemo; Teksen, Fulya; Balci, Sevim; Zerres, Klaus; Bergmann, Carsten

    2007-06-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive, usually lethal multisystemic disorder characterized by early developmental anomalies of the central nervous system, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Three MKS loci have been mapped and recently, two genes were identified: MKS1 on 17q22 in Caucasian kindreds and MKS3 on 8q22 in Omani and Pakistani families, putting MKS on the growing list of ciliary disorders ("ciliopathies"). We performed linkage analysis for MKS1-3 in 14 consanguineous and/or multiplex families of different ethnic origins with histologic diagnosis and at least three classic MKS manifestations in each kindred. Unexpectedly, only five families were linked to any of the known MKS loci, clearly indicating further locus heterogeneity. All five families showed homozygosity for MKS1 and, intriguingly, were of non-Caucasian origin. MKS1 sequencing revealed no mutation in two of these pedigrees, whereas different, novel splicing defects were identified in the three other families and an additional sporadic German patient. Given that all of our mutations and two of the in total four known MKS1 changes cause aberrant splicing (while the other two known mutations were frameshift mutations), we hypothesize that splicing defects are a crucial mutational mechanism in MKS1 which apparently is one of the main loci and key players in MKS. Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest further genetic heterogeneity for MKS. Overall, our data have immediate implications for genetic counselling and testing approaches in MKS. (c) 2007 Wiley-Liss, Inc.

  20. Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

    PubMed

    Wheway, Gabrielle; Abdelhamed, Zakia; Natarajan, Subaashini; Toomes, Carmel; Inglehearn, Chris; Johnson, Colin A

    2013-05-01

    Meckel-Gruber syndrome (MKS) is an embryonic lethal ciliopathy resulting from mutations in genes encoding proteins localising to the primary cilium. Mutations in the basal body protein MKS1 account for 7% of cases of MKS. The condition affects the development of multiple organs, including brain, kidney and skeleton. Here we present a novel Mks1(tm1a(EUCOMM)Wtsi) knockout mouse which accurately recapitulates the human condition, consistently developing pre-axial polydactyly, complex posterior fossa defects (including the Dandy-Walker malformation), and renal cystic dysplasia. TOPFlash Wnt reporter assays in mouse embryonic fibroblasts (MEFs) showed general de-regulated high levels of canonical Wnt/β-catenin signalling in Mks1(-/-) cells. In addition to these signalling defects, we also observed ectopic high proliferation in the brain and kidney of mutant animals at mid- to late-gestation. The specific role of Mks1 in regulating cell proliferation was confirmed in Mks1 siRNA knockdown experiments which showed increased levels of proliferation after knockdown, an effect not seen after knockdown of other ciliopathy genes. We suggest that this is a result of the de-regulation of multiple signalling pathways (Wnt, mTOR and Hh) in the absence of functional Mks1. This novel model system offers insights into the role of MKS1 in Wnt signalling and proliferation, and the impact of deregulation of these processes on brain and kidney development in MKS, as well as expanding our understanding of the role of Mks1 in multiple signalling pathways. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

    PubMed

    Watson, Christopher M; Crinnion, Laura A; Berry, Ian R; Harrison, Sally M; Lascelles, Carolina; Antanaviciute, Agne; Charlton, Ruth S; Dobbie, Angus; Carr, Ian M; Bonthron, David T

    2016-01-04

    The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have been a particular focus of many new services. Here we report a cohort of 26 patients referred for genetic analysis of Joubert (JBTS) and Meckel-Gruber (MKS) syndromes, two clinically and genetically heterogeneous neurodevelopmental conditions that define a phenotypic spectrum, with MKS at the severe end. Exome sequencing was performed for all cases, using Agilent SureSelect v5 reagents and Illumina paired-end sequencing. For two cases medium-coverage (9×) whole genome sequencing was subsequently undertaken. Using a standard analysis pipeline for the detection of single nucleotide and small insertion or deletion variants, molecular diagnoses were confirmed in 12 cases (4%). Seeking to determine whether our cohort harboured pathogenic copy number variants (CNV), in JBTS- or MKS-associated genes, targeted comparative read-depth analysis was performed using FishingCNV. These analyses identified a putative intragenic AHI1 deletion that included three exons spanning at least 3.4 kb and an intergenic MPP4 to TMEM237 deletion that included exons spanning at least 21.5 kb. Whole genome sequencing enabled confirmation of the deletion-containing alleles and precise characterisation of the mutation breakpoints at nucleotide resolution. These data were validated following development of PCR-based assays that could be subsequently used for "cascade" screening and/or prenatal diagnosis. Our investigations expand the AHI1 and TMEM237 mutation spectrum and highlight the importance of performing CNV screening of disease-associated genes. We demonstrate a robust increasingly cost-effective CNV detection workflow that is applicable to all MKS/JBTS referrals.

  2. Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

    PubMed

    Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke Eh; Braz, Paula; Draper, Elizabeth S; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

    2015-06-01

    Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100,000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3 ± 2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.

  3. Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

    PubMed

    Boycott, Kym M; Parboosingh, Jillian S; Scott, James N; McLeod, D Ross; Greenberg, Cheryl R; Fujiwara, T Mary; Mah, Jean K; Midgley, Julian; Wade, Andrew; Bernier, Francois P; Chodirker, Bernard N; Bunge, Martin; Innes, A Micheil

    2007-08-01

    Meckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. A significant clinical overlap between MKS and JSRD/CORS has been recognized in the literature. We describe a group of 10 Hutterite patients, of which 7 had been previously diagnosed with MKS, with a JSRD. Clinical features include variable early mortality, cognitive handicap, a characteristic dysmorphic facial appearance, hypotonia, ataxia, abnormal breathing pattern, nystagmus, and MTS on MRI. Additional features include occipital encephalocele, posterior fossa fluid collections resembling Dandy-Walker malformation, hydrocephalus, coloboma, and renal disease. This JSRD is a recognizable dysmorphic syndrome characterized by hypertelorism, deep-set eyes, down-slanting palpebral fissures, ptosis, arched eyebrows with medial sparseness, square nasal tip, short philtrum with tented upper lip, open mouth with down-turned corners, and posteriorly rotated low-set ears. Renal disease is present in 70% of patients and is characterized by cystic kidneys, abnormalities in renal function and hypertension. Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD. (c) 2007 Wiley-Liss, Inc.

  4. A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

    PubMed

    Bondeson, M-L; Ericson, K; Gudmundsson, S; Ameur, A; Pontén, F; Wesström, J; Frykholm, C; Wilbe, M

    2017-11-01

    Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole-exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with 2 affected fetuses. RNA studies and histopathological analysis was performed for further delineation. WES lead to identification of a homozygous nonsense mutation c.256C>T (p.Arg86*) in CEP55 (centrosomal protein of 55 kDa) in the affected fetus. The variant has previously been identified in carriers in low frequencies, and segregated in the family. CEP55 is an important centrosomal protein required for the mid-body formation at cytokinesis. Our results expand the list of centrosomal proteins implicated in human ciliopathies and provide evidence for an essential role of CEP55 during embryogenesis and development of disease. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Long-term survival of diffuse large B cell lymphoma of the trigeminal region extending to the Meckel's cave treated by CHASER therapy: case report.

    PubMed

    Tanaka, Toshihide; Kato, Naoki; Itoh, Kuniaki; Hasegawa, Yuzuru

    2014-01-01

    A 52-year-old man with a history of malignant lymphoma of the cecum presented with lancinating facial pain in the left. Magnetic resonance imaging (MRI) revealed a tumor in the Meckel's cave extending along the trigeminal nerve. The tumor was partially removed via left retrosigmoid lateral suboccipital craniotomy. Histological examination showed findings consistent with diffuse large B cell lymphoma, which was later confirmed to be metastatic lesion from the cecal lesion. Postoperative chemotherapy with cyclophosphamide, high dose, cytarabine, steroid (dexamethasone), etoposide, and rituximab (CHASER) followed by whole brain irradiation (30 Gy) resulted in complete remission. Although facial pain persisted, the patient's general condition remained favorable and he did not experience recurrence over the 51-month follow-up period. Histological confirmation and awareness of malignant lymphoma are very important to determine the therapeutic strategy and to avoid misdiagnosis or delayed diagnosis. Long-term survival of patients with metastatic malignant lymphoma in the Meckel's cave extending along the trigeminal nerve was very rare. In addition, metastatic malignant lymphoma in the extra-axial and peripheral nervous tissue might be different from primary central nervous system lymphoma in the white matter, since the efficacy of chemotherapeutic agents against malignant lymphomas in the extra-axial regions is not attenuated by the blood brain barrier.

  6. Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.

    PubMed

    Di Meglio, Letizia; Mazzarelli, Laura Letizia; Boscaino, Amedeo; Cancemi, Dino; Morelli, Franco; Lonardo, Maria Concetta; Lonardo, Valeria; Friso, Patrizia; Spampanato, Carmine; Urciuoli, Maria; Ventruto, Marialuisa; Ventruto, Valerio

    2014-01-01

    the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism. the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution). transonic scan, autopsy, karyotype, array-CGH. the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.

  7. Adhesive arachnoiditis causing cauda equina syndrome in ankylosing spondylitis: CT and MRI demonstration of dural calcification and a dorsal dural diverticulum.

    PubMed

    Bilgen, I G; Yunten, N; Ustun, E E; Oksel, F; Gumusdis, G

    1999-07-01

    We present the radiological features of a 42-year-old man with long-standing inactive ankylosing spondylitis (AS), demonstrating that arachnoiditis is a cause of a cauda equina syndrome (CES) in this disease. CT showed a dorsal arachnoid diverticulum causing scalloped erosion of the laminae, and punctate and curvilinear dural calcification. MRI revealed adhesion and convergence of the cauda equina dorsally into the arachnoid pouch, causing the dural sac to appear empty canal. To the best of our knowledge, dural calcification on CT is a new finding in AS, which may be related to the CES. Our findings support the hypothesis that chronic adhesive arachnoiditis with subsequent loss of meningeal elasticity may be the main cause of CES in AS.

  8. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

    PubMed Central

    Cui, Cheng; Chatterjee, Bishwanath; Francis, Deanne; Yu, Qing; SanAgustin, Jovenal T.; Francis, Richard; Tansey, Terry; Henry, Charisse; Wang, Baolin; Lemley, Bethan; Pazour, Gregory J.; Lo, Cecilia W.

    2011-01-01

    SUMMARY Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1del64-323) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein motif with unknown function conserved in two other basal body proteins. We showed that, in wild-type cells, Mks1 was localized to the mother centriole from which the cilium was generated. However, in mutant Mks1del64-323 cells, Mks1 was not localized to the centriole, even though it maintained a punctate distribution. Resembling MKS patients, Mks1 mutants had craniofacial defects, polydactyly, congenital heart defects, polycystic kidneys and randomized left-right patterning. These defects reflected disturbance of functions subserved by motile and non-motile cilia. In the kidney, glomerular and tubule cysts were observed along with short cilia, and cilia were reduced in number to a near-complete loss. Underlying the left-right patterning defects were fewer and shorter nodal cilia, and analysis with fluorescent beads showed no directional flow at the embryonic node. In the cochlea, the stereocilia were mal-patterned, with the kinocilia being abnormally positioned. Together, these defects suggested disruption of planar cell polarity, which is known to regulate node, kidney and cochlea development. In addition, we also showed that Shh signaling was disrupted. Thus, in the neural tube, the floor plate was not specified posteriorly even as expression of the Shh mediator Gli2 increased. By contrast, the Shh signaling domain was expanded in the anterior neural tube and anterior limb bud, consistent with reduced Gli3-repressor (Gli3R) function. The latter probably accounted for the preaxial digit duplication exhibited by the Mks1del64-323 mutants. Overall, these findings indicate that centriole localization of Mks1 is required for ciliogenesis of motile

  9. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.

    PubMed

    Cui, Cheng; Chatterjee, Bishwanath; Francis, Deanne; Yu, Qing; SanAgustin, Jovenal T; Francis, Richard; Tansey, Terry; Henry, Charisse; Wang, Baolin; Lemley, Bethan; Pazour, Gregory J; Lo, Cecilia W

    2011-01-01

    Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1(del64-323)) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein motif with unknown function conserved in two other basal body proteins. We showed that, in wild-type cells, Mks1 was localized to the mother centriole from which the cilium was generated. However, in mutant Mks1(del64-323) cells, Mks1 was not localized to the centriole, even though it maintained a punctate distribution. Resembling MKS patients, Mks1 mutants had craniofacial defects, polydactyly, congenital heart defects, polycystic kidneys and randomized left-right patterning. These defects reflected disturbance of functions subserved by motile and non-motile cilia. In the kidney, glomerular and tubule cysts were observed along with short cilia, and cilia were reduced in number to a near-complete loss. Underlying the left-right patterning defects were fewer and shorter nodal cilia, and analysis with fluorescent beads showed no directional flow at the embryonic node. In the cochlea, the stereocilia were mal-patterned, with the kinocilia being abnormally positioned. Together, these defects suggested disruption of planar cell polarity, which is known to regulate node, kidney and cochlea development. In addition, we also showed that Shh signaling was disrupted. Thus, in the neural tube, the floor plate was not specified posteriorly even as expression of the Shh mediator Gli2 increased. By contrast, the Shh signaling domain was expanded in the anterior neural tube and anterior limb bud, consistent with reduced Gli3-repressor (Gli3R) function. The latter probably accounted for the preaxial digit duplication exhibited by the Mks1(del64-323) mutants. Overall, these findings indicate that centriole localization of Mks1 is required for ciliogenesis of motile and

  10. Complications du diverticule de Meckel (DM) chez l'adulte: à propos de 11 cas au CHU-Yalgado Ouédraogo au Burkina Faso

    PubMed Central

    Ouangré, Edgar; Zida, Maurice; Bazongo, Moussa; Sanou, Adama; Bonkoungou, Gilbert Patindé; Doamba, Rodrigue Namékinsba; Sawadogo, Elie Yamba; Ouédraogo, Sidziguin; Zongo, Nayi; Traore, Si Simon

    2015-01-01

    Le diverticule de Meckel (DM) est la persistance partielle du canal omphalomésentérique. Ses complications sont rares. Le diagnostic est le plus souvent per opératoire. L'objectif a été de décrire les complications du diverticule de Meckel chez l'adulte dans le service de chirurgie générale et digestive du CHU Yalgado Ouédraogo. Il s'est agi d'une étude transversale descriptive sur 10 ans (janvier 2004-décembre 2013) portant sur les dossiers des patients âgés de plus de 15 ans ayant présenté un DM compliqué. Durant la période d’étude, 11 cas ont été colligés. L'incidence annuelle a été de 11 cas. Nous avons noté une prédominance masculine avec un sex-ratio de 4,5. L’âge moyen des patients était de 29,8 ans. Le diagnostic préopératoire a été dans huit cas une occlusion intestinale aiguë, une appendicite aiguë dans deux cas, une péritonite aiguë généralisée dans un cas. Il a été diagnostiqué en peropératoire une occlusion intestinale dans neuf cas; une diverticulite dans un cas et un cas de perforation du DM. Tous les DM avaient été réséqués dont huit résections segmentaires iléales emportant le DM et trois résections cunéiformes. Tous les DM étaient situés à moins d'un mètre de la jonction iléo-caecale. L'histologie réalisée dans deux cas avait conclu à une diverticulite. Les suites opératoires ont été simples dans neuf cas, compliquées dans deux cas dont une éventration et un décès. Les complications du diverticule de Meckel sont rares. Le diagnostic préopératoire est difficile. Le traitement est essentiellement chirurgical. PMID:26958137

  11. The abdominal technetium scan (a decade of experience)

    SciTech Connect

    Cooney, D.R.; Duszynski, D.O.; Camboa, E.; Karp, M.P.; Jewett, T.C. Jr.

    1982-10-01

    Out of 270 children with gastrointestinal symptoms, the indications for technetium scanning were: gastrointestinal tract bleeding (165 patients), abdominal pain (99 patients) and a history of intussusception (6 patients). Thirty children had abnormal findings, while the remaining 240 patients had normal scans. Four of the 30 children with positive scans were not explored, while the others underwent laparotomy. Of the 26 operated patients, 12 (46%) had a Meckel's diverticulum. Nine patients (34%) had other pathologic lesions that were detected by the scan. Five had true false positives as no pathologic lesions were found. Of the 240 children with negative scans, 19 were eventually explored because of persistent symptoms or clinical findings. Two of these had a Meckel's diverticulum. Eleven had a negative exploration while six had other surgical lesions. Technitium scan should reliably detect around 80%-90% of Meckel's diverticula. It will also accurately exclude the diagnosis of Meckel's diverticulum in over 90% of patients.

  12. First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.

    PubMed

    Jones, D; Fiozzo, F; Waters, B; McKnight, D; Brown, S

    2014-12-01

    We describe a first-trimester ultrasound examination in which the finding of fetal encephalocele and the cystic appearance of the kidneys raised suspicion of Meckel-Gruber syndrome (MKS). On the basis of sonographic findings, the patient elected termination of pregnancy, and post-termination studies using next-generation sequencing of a gene panel revealed two mutations (one previously described and the other novel) in the gene CC2D2A. Mutations in CC2D2A are known to cause MKS and Joubert syndrome, thus providing molecular confirmation of the clinical suspicion of MKS and opening the possibility for future prenatal diagnosis. This case highlights the ability to detect important anomalies in the first trimester using ultrasound, even in low-risk situations. It also demonstrates the growing role of new sequencing technologies in fetal testing. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  13. Endovascular Repair of a Right-Sided Descending Thoracic Aortic Aneurysm Associated with a Right Aortic Arch and a Left Subclavian Artery Arising from a Kommerell's Diverticulum

    SciTech Connect

    Klonaris, Chris Avgerinos, Efthimios D.; Katsargyris, Athanasios; Matthaiou, Alexandros; Georgopoulos, Sotirios; Psarros, Vasileios; Bastounis, Elias

    2009-07-15

    This case report describes the endovascular repair of a right-sided descending thoracic aortic aneurysm associated with a right aortic arch and an aberrant left subclavian artery. A 76-year-old male with multiple comorbidities was incidentally found to have a right-sided descending thoracic aortic aneurysm with a maximum diameter of 6.2 cm. Additionally, there was a right aortic arch with a retroesophageal segment and separate arch branches arising in the following order: left common carotid artery, right common carotid artery, right subclavian artery, and left subclavian artery that was aberrant, arising from a Kommerrell's diverticulum. The aneurysm was successfully excluded by deployment of a Zenith TX1 36 x 32 x 20-mm stent-graft using wire traction technique via the left femoral and right brachial arteries in order to deal with two severe aortic angulations. At 18-month follow-up the patient was doing well, with aneurysm sac shrinkage to 5.9 cm and no signs of endoleak or migration. Endovascular repair of right-sided descending thoracic aortic aneurysms with a right arch and aberrant left subclavian artery is feasible, safe, and effective. In such rare configurations, which demand considerably increased technical dexterity and center experience, endovascular repair emerges as an attractive therapeutic option.

  14. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

    PubMed

    Leightner, Amanda C; Hommerding, Cynthia J; Peng, Ying; Salisbury, Jeffrey L; Gainullin, Vladimir G; Czarnecki, Peter G; Sussman, Caroline R; Harris, Peter C

    2013-05-15

    Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology of the disease is not well understood. To further investigate MKS3, we analyzed phenotypes in the Tmem67 null mouse (bpck) and in zebrafish tmem67 morphants. Phenotypes similar to those in human MKS and other ciliopathy models were observed, with additional eye, skeletal and inner ear abnormalities characterized in the bpck mouse. The observed disorganized stereociliary bundles in the bpck inner ear and the convergent extension defects in zebrafish morphants are similar to those found in planar cell polarity (PCP) mutants, a pathway suggested to be defective in ciliopathies. However, analysis of classical vertebrate PCP readouts in the bpck mouse and ciliary organization analysis in tmem67 morphants did not support a global loss of planar polarity. Canonical Wnt signaling was upregulated in cyst linings and isolated fibroblasts from the bpck mouse, but was unchanged in the retina and cochlea tissue, suggesting that increased Wnt signaling may only be linked to MKS3 phenotypes associated with elevated proliferation. Together, these data suggest that defective cilia loading, but not a global loss of ciliogenesis, basal body docking or PCP signaling leads to dysfunctional cilia in MKS3 tissues.

  15. [HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].

    PubMed

    Aalimi, Ula; Spiegel, Etty; Chervinsky, Ilana; Attie-Bitach, Tania; Elkhartoufi, Nadia; Saunier, Sophie; Vekemans, Michel; Abulil-Zuabi, Ulfat; Chemke, Moshe; Spiegel, Ronen; Salev, Stavit

    2015-10-01

    Meckel-Gruber syndrome (MKS) is a lethal rare inherited autosomal recessive disease. The syndrome is characterized by multiple congenital anomalies including polycystic kidneys, occipital encephalocele and polydactyly. The presence of two out of these anomalies is sufficient for a definitive diagnosis. At least 11 genes have been reported to-date to underlie MKS. In the current study we have retrospectively analyzed all the families at the Ha'Emek Medical Center in which the diagnosis of MKS was determined. In total, 17 affected individuals are reported, originating from 12 sibships. The diagnoses were conducted or suspected by prenatal sonography, and some of the newborns were examined. Polycystic kidneys were present in 94% of cases, occipital encephalocele in 82% and polydactyly in about half of all cases. The underlying genetic cause was identified in 11 of our families, comprising mutations in 7 different genes, revealing high genetic heterogeneity. The identification of the genetic basis of MKS in our region allows focused and data-based genetic counseling and serves as an important tool for reproductive decisions, including the prevention of recurrence of pregnancies affected with this lethal syndrome. In the near future we plan to study the prevalence of the different MKS mutations found in each community in order to consider the expansion of national genetic screening in high risk populations.

  16. Three-dimensional observation of the mouse embryo by micro-computed tomography: Meckel's cartilage, otocyst, and/or muscle of tongue.

    PubMed

    Aoyagi, Hidekazu; Iwasaki, Shin-ichi; Yoshizawa, Hideki; Tsuchikawa, Kohzo

    2012-07-01

    Three-dimensional observation during embryogenesis is possible with micro-computed tomography, but there are no observations of organ size. In this paper, three examples of three-dimensional observation of organs by micro-CT are tried. At 13.0 days post-coitum, mouse embryos were fixed in 4% paraformaldehyde for 24 h and stained enbloc by osmium tetroxide overnight. The embryos were then embedded in paraffin using standard methods for 24 h. Specimens were analyzed by micro-computed tomography and image processing was performed. The entire Meckel's cartilage and its relation in the mandible, as well as the complex structure of the otocyst, are easily visualized. Although it is difficult to extract detailed structures of the tongue muscles, it is possible to identify the inner and external tongue muscles. Relation among the organs and other are easily visualized. Three-dimensional observation by micro-computed tomography is an important technology for visualization of embryogenesis and could be used in organ culture.

  17. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

    PubMed

    Delous, Marion; Baala, Lekbir; Salomon, Rémi; Laclef, Christine; Vierkotten, Jeanette; Tory, Kàlmàn; Golzio, Christelle; Lacoste, Tiphanie; Besse, Laurianne; Ozilou, Catherine; Moutkine, Imane; Hellman, Nathan E; Anselme, Isabelle; Silbermann, Flora; Vesque, Christine; Gerhardt, Christoph; Rattenberry, Eleanor; Wolf, Matthias T F; Gubler, Marie Claire; Martinovic, Jéléna; Encha-Razavi, Féréchté; Boddaert, Nathalie; Gonzales, Marie; Macher, Marie Alice; Nivet, Hubert; Champion, Gérard; Berthélémé, Jean Pierre; Niaudet, Patrick; McDonald, Fiona; Hildebrandt, Friedhelm; Johnson, Colin A; Vekemans, Michel; Antignac, Corinne; Rüther, Ulrich; Schneider-Maunoury, Sylvie; Attié-Bitach, Tania; Saunier, Sophie

    2007-07-01

    Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium dysfunction. Using SNP mapping, we identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of CORS and MKS. In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). In addition, the RPGRIP1L missense mutations found in CORS individuals diminishes the interaction between RPGRIP1L and nephrocystin-4. Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.

  18. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

    PubMed

    Bialas, Nathan J; Inglis, Peter N; Li, Chunmei; Robinson, Jon F; Parker, Jeremy D K; Healey, Michael P; Davis, Erica E; Inglis, Chrystal D; Toivonen, Tiina; Cottell, David C; Blacque, Oliver E; Quarmby, Lynne M; Katsanis, Nicholas; Leroux, Michel R

    2009-03-01

    Meckel syndrome (MKS) is a ciliopathy characterized by encephalocele, cystic renal disease, liver fibrosis and polydactyly. An identifying feature of MKS1, one of six MKS-associated proteins, is the presence of a B9 domain of unknown function. Using phylogenetic analyses, we show that this domain occurs exclusively within a family of three proteins distributed widely in ciliated organisms. Consistent with a ciliary role, all Caenorhabditis elegans B9-domain-containing proteins, MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia. Their subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins. This localization is evolutionarily conserved, because the human orthologues also localize to basal bodies, as well as cilia. As reported for MKS1, disrupting human MKSR1 or MKSR2 causes ciliogenesis defects. By contrast, single, double and triple C. elegans mks/mksr mutants do not display overt defects in ciliary structure, intraflagellar transport or chemosensation. However, we find genetic interactions between all double mks/mksr mutant combinations, manifesting as an increased lifespan phenotype, which is due to abnormal insulin-IGF-I signaling. Our findings therefore demonstrate functional interactions between a novel family of proteins associated with basal bodies or cilia, providing new insights into the molecular etiology of a pleiotropic human disorder.

  19. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

    PubMed Central

    Bialas, Nathan J.; Inglis, Peter N.; Li, Chunmei; Robinson, Jon F.; Parker, Jeremy D. K.; Healey, Michael P.; Davis, Erica E.; Inglis, Chrystal D.; Toivonen, Tiina; Cottell, David C.; Blacque, Oliver E.; Quarmby, Lynne M.; Katsanis, Nicholas; Leroux, Michel R.

    2009-01-01

    Summary Meckel syndrome (MKS) is a ciliopathy characterized by encephalocele, cystic renal disease, liver fibrosis and polydactyly. An identifying feature of MKS1, one of six MKS-associated proteins, is the presence of a B9 domain of unknown function. Using phylogenetic analyses, we show that this domain occurs exclusively within a family of three proteins distributed widely in ciliated organisms. Consistent with a ciliary role, all Caenorhabditis elegans B9-domain-containing proteins, MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia. Their subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins. This localization is evolutionarily conserved, because the human orthologues also localize to basal bodies, as well as cilia. As reported for MKS1, disrupting human MKSR1 or MKSR2 causes ciliogenesis defects. By contrast, single, double and triple C. elegans mks/mksr mutants do not display overt defects in ciliary structure, intraflagellar transport or chemosensation. However, we find genetic interactions between all double mks/mksr mutant combinations, manifesting as an increased lifespan phenotype, which is due to abnormal insulin–IGF-I signaling. Our findings therefore demonstrate functional interactions between a novel family of proteins associated with basal bodies or cilia, providing new insights into the molecular etiology of a pleiotropic human disorder. PMID:19208769

  20. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

    PubMed Central

    Leightner, Amanda C.; Hommerding, Cynthia J.; Peng, Ying; Salisbury, Jeffrey L.; Gainullin, Vladimir G.; Czarnecki, Peter G.; Sussman, Caroline R.; Harris, Peter C.

    2013-01-01

    Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology of the disease is not well understood. To further investigate MKS3, we analyzed phenotypes in the Tmem67 null mouse (bpck) and in zebrafish tmem67 morphants. Phenotypes similar to those in human MKS and other ciliopathy models were observed, with additional eye, skeletal and inner ear abnormalities characterized in the bpck mouse. The observed disorganized stereociliary bundles in the bpck inner ear and the convergent extension defects in zebrafish morphants are similar to those found in planar cell polarity (PCP) mutants, a pathway suggested to be defective in ciliopathies. However, analysis of classical vertebrate PCP readouts in the bpck mouse and ciliary organization analysis in tmem67 morphants did not support a global loss of planar polarity. Canonical Wnt signaling was upregulated in cyst linings and isolated fibroblasts from the bpck mouse, but was unchanged in the retina and cochlea tissue, suggesting that increased Wnt signaling may only be linked to MKS3 phenotypes associated with elevated proliferation. Together, these data suggest that defective cilia loading, but not a global loss of ciliogenesis, basal body docking or PCP signaling leads to dysfunctional cilia in MKS3 tissues. PMID:23393159

  1. Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation.

    PubMed

    Balci, Sevim; Tekşen, Fulya; Dökmeci, Fulya; Cengiz, Bora; Cömert, Ruhi Bariş; Can, Bilge; Ozdamar, Sükrü

    2004-01-01

    We report a 23-week-old male fetus affected by Meckel-Gruber syndrome. Posterior encephalocele, post-axial polydactyly, and Dandy-Walker malformation were observed on ultrasonographic (USG) examination at 22 weeks' gestation, and lobar holoprosencephaly was demonstrated on postmortem magnetic resonance imaging (MRI) prior to autopsy. After the termination of the pregnancy, polycystic dysplastic kidneys were also noted at postmortem investigation. The proband was the product of the fourth pregnancy of a consanguineous family in which all three siblings were also similarly affected. Interestingly, both the two-year-old affected sister and 23-week-old male fetus had Dandy-Walker complex.

  2. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.

    PubMed

    Abdelhamed, Zakia A; Wheway, Gabrielle; Szymanska, Katarzyna; Natarajan, Subaashini; Toomes, Carmel; Inglehearn, Chris; Johnson, Colin A

    2013-04-01

    The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS) even at the inter-individual level within families. In humans, mutations in TMEM67 (also known as MKS3) cause both MKS and JBTS, with TMEM67 encoding the orphan receptor meckelin (TMEM67) that localizes to the ciliary transition zone. We now describe the Tmem67(tm1(Dgen/H)) knockout mouse model that recapitulates the brain phenotypic variability of these human ciliopathies, with categorization of Tmem67 mutant animals into two phenotypic groups. An MKS-like incipient congenic group (F6 to F10) manifested very variable neurological features (including exencephaly, and frontal/occipital encephalocele) that were associated with the loss of primary cilia, diminished Shh signalling and dorsalization of the caudal neural tube. The 'MKS-like' group also had high de-regulated canonical Wnt/β-catenin signalling associated with hyper-activated Dishevelled-1 (Dvl-1) localized to the basal body. Conversely, a second fully congenic group (F > 10) had less variable features pathognomonic for JBTS (including cerebellar hypoplasia), and retention of abnormal bulbous cilia associated with mild neural tube ventralization. The 'JBTS-like' group had de-regulated low levels of canonical Wnt signalling associated with the loss of Dvl-1 localization to the basal body. Our results suggest that modifier alleles partially determine the variation between MKS and JBTS, implicating the interaction between Dvl-1 and meckelin, or other components of the ciliary transition zone. The Tmem67(tm1(Dgen/H)) line is unique in modelling the variable expressivity of phenotypes in these two ciliopathies.

  3. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling

    PubMed Central

    Barrington, Chloe L.; Katsanis, Nicholas

    2017-01-01

    The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure. PMID:28291807

  4. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

    PubMed

    Khaddour, Rana; Smith, Ursula; Baala, Lekbir; Martinovic, Jéléna; Clavering, Davina; Shaffiq, Rizwana; Ozilou, Catherine; Cullinane, Andrew; Kyttälä, Mira; Shalev, Stavit; Audollent, Sophie; d'Humières, Camille; Kadhom, Noman; Esculpavit, Chantal; Viot, Géraldine; Boone, Claire; Oien, Christine; Encha-Razavi, Férechté; Batman, Philip A; Bennett, Christopher P; Woods, C Geoffrey; Roume, Joelle; Lyonnet, Stanislas; Génin, Emmanuelle; Le Merrer, Martine; Munnich, Arnold; Gubler, Marie-Claire; Cox, Phillip; Macdonald, Fiona; Vekemans, Michel; Johnson, Colin A; Attié-Bitach, Tania

    2007-05-01

    Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. MKS is genetically heterogeneous and three loci have been mapped respectively on 17q23 (MKS1), 11q13 (MKS2), and 8q24 (MKS3). Very recently, two genes have been identified: MKS1/FLJ20345 on 17q in Finnish kindreds, carrying the same intronic deletion, c.1408-35_c.1408-7del29, and MKS3/TMEM67 on 8q in families from Pakistan and Oman. Here we report the genotyping of the MKS1 and MKS3 genes in a large, multiethnic cohort of 120 independent cases of MKS. Our first results indicate that the MKS1 and MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations. A strong phenotype-genotype correlation, depending on the mutated gene, was observed regarding the type of central nervous system malformation, the frequency of polydactyly, bone dysplasia, and situs inversus. The MKS1 c.1408-35_1408-7del29 intronic mutation was identified in three cases from French or English origin and dated back to 162 generations (approx. 4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years). 2007 Wiley-Liss, Inc.

  5. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

    PubMed Central

    Hopp, Katharina; Heyer, Christina M.; Hommerding, Cynthia J.; Henke, Susan A.; Sundsbak, Jamie L.; Patel, Shail; Patel, Priyanka; Consugar, Mark B.; Czarnecki, Peter G.; Gliem, Troy J.; Torres, Vicente E.; Rossetti, Sandro; Harris, Peter C.

    2011-01-01

    Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. This disorder is thought to be associated with defects in primary cilia; therefore, it is classed as a ciliopathy. To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L). However, mutation screening of these genes revealed two mutated alleles in only just over half of our MKS cohort (46 families), suggesting an even greater level of genetic heterogeneity. To explore the full genetic complexity of MKS, we performed exon-enriched next-generation sequencing of 31 ciliopathy genes in 12 MKS pedigrees using RainDance microdroplet-PCR enrichment and IlluminaGAIIx next-generation sequencing. In family M456, we detected a splice-donor site change in a novel MKS gene, B9D1. The B9D1 protein is structurally similar to MKS1 and has been shown to be of importance for ciliogenesis in Caenorhabditis elegans. Reverse transcriptase–PCR analysis of fetal RNA revealed, hemizygously, a single smaller mRNA product with a frameshifting exclusion of B9D1 exon 4. ArrayCGH showed that the second mutation was a 1.713 Mb de novo deletion completely deleting the B9D1 allele. Immunofluorescence analysis highlighted a significantly lower level of ciliated patient cells compared to controls, confirming a role for B9D1 in ciliogenesis. The fetus inherited an additional likely pathogenic novel missense change to a second MKS gene, CEP290; p.R2210C, suggesting oligogenic inheritance in this disorder. PMID:21493627

  6. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

    PubMed

    Goetz, Sarah C; Bangs, Fiona; Barrington, Chloe L; Katsanis, Nicholas; Anderson, Kathryn V

    2017-01-01

    The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure.

  7. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

    PubMed

    Hopp, Katharina; Heyer, Christina M; Hommerding, Cynthia J; Henke, Susan A; Sundsbak, Jamie L; Patel, Shail; Patel, Priyanka; Consugar, Mark B; Czarnecki, Peter G; Gliem, Troy J; Torres, Vicente E; Rossetti, Sandro; Harris, Peter C

    2011-07-01

    Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. This disorder is thought to be associated with defects in primary cilia; therefore, it is classed as a ciliopathy. To date, six genes have been commonly associated with MKS (MKS1, TMEM67, TMEM216, CEP290, CC2D2A and RPGRIP1L). However, mutation screening of these genes revealed two mutated alleles in only just over half of our MKS cohort (46 families), suggesting an even greater level of genetic heterogeneity. To explore the full genetic complexity of MKS, we performed exon-enriched next-generation sequencing of 31 ciliopathy genes in 12 MKS pedigrees using RainDance microdroplet-PCR enrichment and IlluminaGAIIx next-generation sequencing. In family M456, we detected a splice-donor site change in a novel MKS gene, B9D1. The B9D1 protein is structurally similar to MKS1 and has been shown to be of importance for ciliogenesis in Caenorhabditis elegans. Reverse transcriptase-PCR analysis of fetal RNA revealed, hemizygously, a single smaller mRNA product with a frameshifting exclusion of B9D1 exon 4. ArrayCGH showed that the second mutation was a 1.713 Mb de novo deletion completely deleting the B9D1 allele. Immunofluorescence analysis highlighted a significantly lower level of ciliated patient cells compared to controls, confirming a role for B9D1 in ciliogenesis. The fetus inherited an additional likely pathogenic novel missense change to a second MKS gene, CEP290; p.R2210C, suggesting oligogenic inheritance in this disorder.

  8. High-Resolution Physical and Genetic Mapping of the Critical Region for Meckel Syndrome and Mulibrey Nanism on Chromosome 17q22–q23

    PubMed Central

    Paavola, Paulina; Avela, Kristiina; Horelli-Kuitunen, Nina; Bärlund, Maarit; Kallioniemi, Anne; Idänheimo, Niina; Kyttälä, Mira; de la Chapelle, Albert; Palotie, Aarno; Lehesjoki, Anna-Elina; Peltonen, Leena

    1999-01-01

    Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle–liver–brain–eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an ∼800-kb region. The MUL locus was refined into an ∼1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes. [The sequence data described in this paper have been submitted to the GenBank data library under accession nos. G42608–G42611, G42376–G42388, and G42200–G42250. The online supplement for primer sequences and PCR product sizes, as well as the STS-content table, are available at http://www.cshl.org/gr.] PMID:10077533

  9. Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: report of a case.

    PubMed

    Watanabe, Toshihiko; Nakano, Miwako; Yamazawa, Kazuki; Maeyama, Katsuhiro; Endo, Masao

    2011-05-01

    Situs ambiguus is a rare lateralization anomaly that is frequently associated with other malformations, including preduodenal portal vein (PDPV), intestinal malrotation, and cardiovascular anomalies. This is a case report on a newborn that was clinically diagnosed with situs ambiguus and midgut volvulus. During surgery the patient was found to have intestinal malrotation, Meckel's diverticulum, and PDPV that was not a direct cause of duodenal obstruction. The patient was treated with Ladd's procedure and resection of Meckel's diverticulum. It is important to be familiar with the spectrum of situs anomalies to prevent trauma to the portal vein with serious complications during surgery.

  10. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

    PubMed

    Abdelhamed, Zakia A; Natarajan, Subaashini; Wheway, Gabrielle; Inglehearn, Christopher F; Toomes, Carmel; Johnson, Colin A; Jagger, Daniel J

    2015-06-01

    Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects. The basal body/kinocilium complex was often uncoupled from the hair bundle, suggesting aberrant basal body migration, although planar cell polarity and apical planar asymmetry in the organ of Corti were normal. TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan receptor 2) upon stimulation with Wnt5a-conditioned medium. ROR2 also colocalises and interacts with TMEM67 at the ciliary transition zone. Additionally, the extracellular N-terminal domain of TMEM67 preferentially binds to Wnt5a in an in vitro binding assay. Cultured lungs of Tmem67 mutant mice failed to respond to stimulation of epithelial branching morphogenesis by Wnt5a. Wnt5a also inhibited both the Shh and canonical Wnt/β-catenin signalling pathways in wild-type embryonic lung. Pulmonary hypoplasia phenotypes, including loss of correct epithelial branching morphogenesis and cell polarity, were rescued by stimulating the non-canonical Wnt pathway downstream of the Wnt5a-TMEM67-ROR2 axis by activating RhoA. We propose that TMEM67 is a receptor that has a main role in non-canonical Wnt signalling, mediated by Wnt5a and ROR2, and normally represses Shh signalling. Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions.

  11. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

    PubMed Central

    Abdelhamed, Zakia A.; Natarajan, Subaashini; Wheway, Gabrielle; Inglehearn, Christopher F.; Toomes, Carmel; Johnson, Colin A.; Jagger, Daniel J.

    2015-01-01

    ABSTRACT Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67tm1Dgen/H1 knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning defects. The basal body/kinocilium complex was often uncoupled from the hair bundle, suggesting aberrant basal body migration, although planar cell polarity and apical planar asymmetry in the organ of Corti were normal. TMEM67 (meckelin) is essential for phosphorylation of the non-canonical Wnt receptor ROR2 (receptor-tyrosine-kinase-like orphan receptor 2) upon stimulation with Wnt5a-conditioned medium. ROR2 also colocalises and interacts with TMEM67 at the ciliary transition zone. Additionally, the extracellular N-terminal domain of TMEM67 preferentially binds to Wnt5a in an in vitro binding assay. Cultured lungs of Tmem67 mutant mice failed to respond to stimulation of epithelial branching morphogenesis by Wnt5a. Wnt5a also inhibited both the Shh and canonical Wnt/β-catenin signalling pathways in wild-type embryonic lung. Pulmonary hypoplasia phenotypes, including loss of correct epithelial branching morphogenesis and cell polarity, were rescued by stimulating the non-canonical Wnt pathway downstream of the Wnt5a-TMEM67-ROR2 axis by activating RhoA. We propose that TMEM67 is a receptor that has a main role in non-canonical Wnt signalling, mediated by Wnt5a and ROR2, and normally represses Shh signalling. Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital

  12. An unusual constellation of congenital malformations in a single patient including partial anomalous pulmonary venous return, persistent left superior vena cava, aberrant pulmonary fissure, anomalous aortic arch, tracheal diverticulum and annular pancreas.

    PubMed

    Lapa, T; Vedelago, J; Kim, H; Patrick, E

    2014-10-31

    We report a case of a male patient with a constellation of rare congenital anomalies consisting of: partial anomalous pulmonary venous return (PAPVR), persistent left superior vena cava, 'bovine arch' aortic branching, tracheal diverticulum, aberrant lung fissure anatomy and an annular pancreas. He had presented with a history of worsening dyspnoea. To the best of our knowledge, this is the first reported case of a single patient with such a vast constellation of anomalies. The radiological evaluations, epidemiology, embryology and clinical features of the anomalies are discussed. It is important for radiologists to be aware of each of these anomalies as distinct entities; detection of a single anomaly should alert to the possibility that further anatomic aberrancies may be present.

  13. Common uses of nonradioactive drugs in nuclear medicine

    SciTech Connect

    Ponto, J.A.; Hladik, W.B.

    1984-06-01

    A variety of nonradioactive pharmaceuticals commonly used in patients who receive nuclear medicine diagnostic tests are described. Nonradioactive drugs used in thyroid, brain, hepatobiliary, cardiac, renal, Meckel's diverticulum, gallium, adrenal, and hematological studies are described. Pharmaceutical necessities used as disinfectants, diluents, and anticoagulants are also described. Hospital pharmacists should be familiar with the uses of commonly prescribed nonradioactive drugs in nuclear medicine studies.

  14. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

    PubMed

    Auber, B; Burfeind, P; Herold, S; Schoner, K; Simson, G; Rauskolb, R; Rehder, H

    2007-11-01

    Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder causing severe defects in the developing central nervous system and other organs. Recently, mutations in the MKS1 gene have been identified as disease causing in individuals of Finnish MKS families. The primary aim of the present study was to assess the frequency of the 'Finnish founder mutation' (29 bp IVS15-7_35) in the MKS1 gene in 20 aborted fetuses with a diagnosis of MKS. The secondary aim was to screen for novel mutations in the coding sequence of the MKS1 gene of MKS fetuses and to obtain genotype-phenotype correlations where possible. Furthermore, we evaluated the carrier rate of a deletion of 29 bp in intron 15 of the MKS1 gene in a German population. To identify and characterize mutations in the MKS1 gene, sequence analyses and quantitative real time polymerase chain reaction studies were performed. We could identify the same type of mutation, a deletion of 29 bp in intron 15 of the MKS1 gene, in 8 out of the 20 cases studied. Six out of the eight cases with such a mutation displayed the campomelic variant of MKS. The carrier frequency among 519 healthy German individuals was 1:260. This deletion in the MKS1 gene is highly associated with a distinct subtype of the MKS, namely the campomelic variant. In individuals of European origin suffering from the campomelic MKS variant, the described deletion is highly likely to be causative. Regarding the results of our study, the incidence of MKS in Germany can be estimated as 1:135,000. In families with a known mutation in the MKS1 gene, it is now possible to offer an early prenatal testing, for example with chorionic villus sampling and mutation analysis.

  15. Gallstone obstructive ileus 3 years post-cholecystectomy to a patient with an old ileoileal anastomosis.

    PubMed

    Papavramidis, T S; Potsi, S; Paramythiotis, D; Michalopoulos, A; Papadopoulos, V N; Douros, V; Pantoleon, A; Foutzila-Kalogera, A; Ekonomou, I; Harlaftis, N

    2009-12-01

    The present case is one of gallstone obstructive ileus due to gallstones 3 yr after laparoscopic cholecystectomy. It is interesting because of the sex of the patient, the fact that ileus occurred 3 yr after cholecystectomy and that the localization of the obstruction was an old side-to-side ileoileal anastomosis due to a diverticulectomy following intussusception of Meckels' diverticulum at the age of 3.

  16. Effect of cimetidine on blood clearance, gastric uptake, and secretion of /sup 99m/Tc-pertechnetate in dogs

    SciTech Connect

    Sagar, V.V.; Piccone, J.M.

    1981-06-01

    The effect of cimetidine, an H/sub 2/-receptor blocking agent, on the secretion of /sup 99m/Tc-pertechnetate was studied in 11 dogs. In cimetidine-treated animals, there was increased retention of /sup 99m/Tc-pertechnetate by the gastric wall as compared with the untreated animals. The results indicate the potential use of cimetidine for enhanced visualization of Meckel's diverticulum, Barrett's esophagus, and the stomach, with /sup 99m/Tc-pertechnetate.

  17. Sonography of Abdominal Pain in Children: Appendicitis and Its Common Mimics.

    PubMed

    Sanchez, Thomas Ray; Corwin, Michael T; Davoodian, Andrew; Stein-Wexler, Rebecca

    2016-03-01

    Abdominal pain is very common in the pediatric population (<18 years of age). Sonography is a safe modality that can often differentiate the frequently encountered causes of abdominal pain in children. This pictorial essay will discuss the sonographic findings of acute appendicitis, including the imaging appearance of a perforated appendicitis. It will also present the sonographic features of the relatively common mimics of appendicitis, such as mesenteric adenitis/gastroenteritis, intussusception, Meckel diverticulum, and ovarian torsion.

  18. Indirect inguinal hernia sac containing testis and spermatic cord in an adult patient with cryptorchidism

    PubMed Central

    Arslan, Yusuf; Karaman, Kerem; Altintoprak, Fatih; Kahyaoglu, Zeynep; Zengin, Ismail; Uzunoglu, Mustafa Yener; Demir, Hakan

    2014-01-01

    Sliding hernias are those in which part of the sac wall is formed by a retroperitoneal organ and/or its mesentery protruding outside the abdominal wall cavity. The hernia sac may contain jejunum, ileum, vermiform appendix, Meckel's diverticulum, stomach, ovary, fallopian tube or urinary bladder. Our report features an adult case with cryptorchidism in which testis and spermatic cord constitute a component of the indirect inguinal hernia sac. PMID:24876399

  19. Intussusception in Children with a Pathological Appendix Acting as a "Lead Point" - A Series of 3 Cases.

    PubMed

    Joshi, Sanjeev B; E, Harish; Kinhal, Vidyadhar; Kola, Sivasai Krishnaprasad; K, Sundeep V

    2015-07-01

    Meckel's diverticulum is commonest lead point for intussusception in children. Appendix is part of the intusssusception of the commonest ileocolic type but appendix as lead point for intussusception is rare. We report a series of 3 cases of intussusception in children, wherein a pathological appendix was the lead point. We would like to propose that more likely a pathological appendix, acts as a lead point leading to an appendico-caeco-colic intussusception rather than a normal appendix.

  20. Indirect inguinal hernia sac containing testis and spermatic cord in an adult patient with cryptorchidism.

    PubMed

    Arslan, Yusuf; Karaman, Kerem; Altintoprak, Fatih; Kahyaoglu, Zeynep; Zengin, Ismail; Uzunoglu, Mustafa Yener; Demir, Hakan

    2014-03-07

    Sliding hernias are those in which part of the sac wall is formed by a retroperitoneal organ and/or its mesentery protruding outside the abdominal wall cavity. The hernia sac may contain jejunum, ileum, vermiform appendix, Meckel's diverticulum, stomach, ovary, fallopian tube or urinary bladder. Our report features an adult case with cryptorchidism in which testis and spermatic cord constitute a component of the indirect inguinal hernia sac.

  1. Congenital Vitelline Band Causing Intestinal Obstruction in an Adult with a Double Inferior Vena Cava

    PubMed Central

    Pussepitiya, Kumari; Samarasinghe, Bandula; Wickramasinghe, Nuwan

    2016-01-01

    Introduction. Vitelline artery remnants are rare causes of intra-abdominal bands leading to bowel obstruction. These bands may be associated with Meckel's diverticulum. Double inferior vena cava (IVC) is a rare presentation and is usually identified incidentally. Case Presentation. A sixty-year-old male presented with progressive vomiting for five days and he was clinically diagnosed with intestinal obstruction. Plain X-ray abdomen showed evidence of small bowel obstruction. CT scan of the abdomen revealed dilated small bowel loops with a small outpouching in the distal ileum with a band like structure attached to it. In the CT, left sided patent IVC draining into the left renal vein was identified. Left external iliac vein was in continuity with the left IVC. Left internal iliac vein was draining into the right IVC. Exploratory laparotomy revealed a Meckel's diverticulum with a band identified as the vitelline remnant attached to its apex and inserting at the anterior abdominal wall near the umbilicus. Discussion. Meckel's diverticulum with vitelline bands, although rare, should be borne in mind in adult patients with intestinal obstruction. Identification of this anomaly can be difficult in imaging studies. Presence of double IVC should be mentioned in the imaging findings to prevent possible catastrophic complications during surgery. PMID:27843667

  2. Results of operative treatment of hypopharyngeal diverticulum.

    PubMed Central

    Bertelsen, S; Aasted, A

    1976-01-01

    The so-called hypopharyngeal diverticula may be classified, according to their size, localization, and form, into three stages. Small diverticula (first stage) should not be surgically removed, whereas all other diverticula, that is, those causing symptoms, must be surgically removed as soon after diagnosis as possible. Diverticulectomy performed in one stage is the treatment of choice. A series of patients is reviewed. The risk involved in surgery is found to be of minor degree, and the incidence of complications is low. Radiologically demonstrable recurrence may develop in 10% to 12% of all patients while clinical symptoms of recurrence are seen in only about 2%. PMID:825989

  3. Appendiceal diverticulum associated with chronic appendicitis

    PubMed Central

    Zubieta-O’Farrill, Gregorio; Guerra-Mora, José Raúl; Gudiño-Chávez, Andrés; Gonzalez-Alvarado, Carlos; Cornejo-López, Gilberto Bernabe; Villanueva-Sáenz, Eduardo

    2014-01-01

    INTRODUCTION Appendiceal diverticulosis is a rare entity, with a global incidence between 0.004% and 2.1% of all appendectomies. It has been related with an elevated risk of perforation in comparison to acute appendicitis, as well as an increased risk for synchronic appendicular cancer in 48% of the cases, and colonic cancer in 43%. The incidence of chronic appendicitis has been reported in 1.5% of all appendicitis cases. PRESENTATION OF CASE We present a 73-year-old female, with no relevant familial history, who presented due to a four-month-long oppressive, moderate pain in the lower right abdominal quadrant without irradiation or any other accompanying symptoms. DISCUSSION The documented incidence of appendiceal diverticula and chronic appendicitis by themselves is low; therefore the presence of both entities at the same time is extremely rare. CONCLUSION We present a case in which both diagnoses concurred in the same patient. The relevance of this case relies on the importance of the adequate knowledge of these pathologies, so we can approach them correctly. Although it does not represent an absolute surgical emergency, appendectomy represents the first therapeutic option. PMID:25460447

  4. Appendiceal diverticulum associated with chronic appendicitis.

    PubMed

    Zubieta-O'Farrill, Gregorio; Guerra-Mora, José Raúl; Gudiño-Chávez, Andrés; Gonzalez-Alvarado, Carlos; Cornejo-López, Gilberto Bernabe; Villanueva-Sáenz, Eduardo

    2014-01-01

    Appendiceal diverticulosis is a rare entity, with a global incidence between 0.004% and 2.1% of all appendectomies. It has been related with an elevated risk of perforation in comparison to acute appendicitis, as well as an increased risk for synchronic appendicular cancer in 48% of the cases, and colonic cancer in 43%. The incidence of chronic appendicitis has been reported in 1.5% of all appendicitis cases. We present a 73-year-old female, with no relevant familial history, who presented due to a four-month-long oppressive, moderate pain in the lower right abdominal quadrant without irradiation or any other accompanying symptoms. The documented incidence of appendiceal diverticula and chronic appendicitis by themselves is low; therefore the presence of both entities at the same time is extremely rare. We present a case in which both diagnoses concurred in the same patient. The relevance of this case relies on the importance of the adequate knowledge of these pathologies, so we can approach them correctly. Although it does not represent an absolute surgical emergency, appendectomy represents the first therapeutic option. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  5. Major Complications of Small Bowel Diverticula

    PubMed Central

    Donald, John W.

    1979-01-01

    Complications of diverticula of the duodenum, jejunum and ileum, exclusive of Meckel's diverticula are extremely rare but can produce major diagnostic and therapeutic problems. Major reported complications include hemorrhage, perforation, biliary and pancreatic obstruction, and inflammation with intestinal obstruction. The mortality of complicated duodenal diverticula is reported from 33 to 48%. Our experience with some of these complications is reported. This experience and a review of other reported cases have led to the following recommendations for surgical treatment. 1) Massively bleeding duodenal diverticulum. Precise localization of the bleeding point by endoscopy and/or arteriography is highly desirable. Excision or partial excision of the diverticulum with suture ligation of the bleeding point is necessary. 2) Perforated duodenal diverticulum. Excision or partial excision, secure closure and drainage are necessary. If peri-Vaterian, a probe should be passed through the ampulla of Vater via the common duct. Unless an entirely satisfactory closure is achieved, complete diversion of the enteric stream from the duodenum by vagotomy, antrectomy with closure of duodenal stump, and Billroth II anastomosis is recommended. 3) Choledochal obstruction due to duodenal diverticulum. Choledocho-duodenostomy. 4) Perforation, bleeding, or obstruction due to jejunal or ileal diverticulum. In rare cases, local excision of the diverticulum is feasible. Usually, resection of the involved segment with primary anastomosis is indicated. ImagesFig. 1.Fig. 2.Fig. 3.Fig. 4.Fig. 5.Fig. 6. PMID:111637

  6. Endoscopic treatment of a large colonic polyp as a cause of colocolonic intussusception in a child.

    PubMed

    Suksamanapun, Nutnicha; Uiprasertkul, Mongkol; Ruangtrakool, Ravit; Akaraviputh, Thawatchai

    2010-07-16

    Colocolonic intussusception is an uncommon cause of intestinal obstruction in children. The most common type is idiopathic ileocolic intussusception. However, pathologic lead points occur approximately in 5% of cases. In pediatric patients, Meckel's diverticulum is the most common lead point, followed by polyps and duplication. We present a case of recurrent colocolonic intussusception which caused colonic obstruction in a 10-year-old boy. A barium enema revealed a large polypoid mass at the transverse colon. Colonoscopy showed a colonic polyp, 3.5 centimeters in diameter, which was successfully removed by endoscopic polypectomy.

  7. Small Bowel Hamartoma: A Huge Diverticulum of Small Bowel

    PubMed Central

    Eltweri, Amar M.; Salama, Yahya; Gorgees, Neshtman; Naidu, Leena; Bowrey, David J.

    2013-01-01

    A-20-year old male, with no significant medical history, presented with clinical features mimicking a perforated acute appendicitis. Because of features of peritonitis, a laparotomy was performed which showed a segment of small bowel with multiple large diverticula and mesenteric cysts. A segmental small bowel resection was performed. The patient made an uneventful recovery from surgery. Histology revealed features of a small bowel hamartoma. PMID:24454405

  8. [Zenker's diverticulum: election of surgical treatment and outcome. Case presentation].

    PubMed

    Segura-González, José Manuel Carlos; Espinosa-González, Omar; García-Cano, Eugenio; Sánchez-Córdova, Gabriela; Hernández-Ceballos, Javier Alonso

    2014-01-01

    Antecedentes: los divertículos de Zenker son protrusiones de la mucosa faríngea a través de una zona débil de su pared posterior. Es un padecimiento raro, con una incidencia en México de aproximadamente 0.04% de la población. El tratamiento indicado es quirúrgico. Caso clínico: paciente masculino de 67 años de edad, que 15 meses antes del diagnóstico experimentó síntomas de: disfagia a sólidos y ocasionalmente a líquidos, ahogo por las noches, sialorrea, halitosis, pérdida de 3 kg en dos meses y aumento del apetito. El diagnóstico se confirmó a través de métodos de imagen y endoscopia. Se realizó exitosamente una diverticulectomía con miotomía de músculo cricofaríngeo. Al tercer día de operado pudo ingerir líquidos sin complicaciones, y fue dado de alta al sexto día. Un año después no había mostrado recurrencias. Conclusión: los procedimientos de invasión mínima son útiles en pacientes con comorbilidades porque requieren corto tiempo de anestesia y de hospitalización. En este medio, el tratamiento abierto es la mejor técnica para su resolución, ya que la capacitación para efectuar procedimientos endoscópicos representa un problema por la falta de infraestructura y personal especializado.

  9. Physiologic Basis for the Treatment of Epiphrenic Diverticulum

    PubMed Central

    Nehra, Dhiren; Lord, Reginald V.; DeMeester, Tom R.; Theisen, Jörg; Peters, Jeffrey H.; Crookes, Peter F.; Bremner, Cedric G.

    2002-01-01

    Objective To quantitate and characterize the motility abnormalities present in patients with epiphrenic diverticula and to assess the outcome of surgical treatment undertaken according to these abnormalities. Summary Background Data The concept that epiphrenic diverticula are complications of esophageal motility disorders rather than primary anatomic abnormalities is gradually becoming accepted. The inconsistency in identifying motility abnormalities in patients with epiphrenic diverticula is a major obstacle to the general acceptance of this concept. Methods The study population consisted of 21 consecutive patients with epiphrenic diverticula. All patients underwent videoesophagography, upper gastrointestinal endoscopy, and esophageal motility studies. The diverticula ranged in size from 3 to 10 cm and were predominantly right-sided. Seventeen patients underwent transthoracic diverticulectomy or diverticulopexy with esophageal myotomy and an antireflux procedure. The length of the myotomy was determined by the extent of the motility abnormality. Transhiatal esophagectomy was performed in one patient with multiple diverticula. Two patients declined surgical treatment and another patient died of aspiration before surgery. Symptomatic outcome was assessed via a questionnaire at a median of 24 months after surgery. Results The primary symptoms were dysphagia in 5 (24%) patients, dysphagia and regurgitation in 11 (52%) patients, and pulmonary symptoms in 5 (24%) patients. The median duration of the primary symptoms was 10 years. Esophageal motility abnormalities were identified in all patients. An esophageal motor disorder was diagnosed only by 24-hour ambulatory motility testing in one patient, and 24-hour ambulatory motility testing clarified the motility diagnosis in five other patients. The most common underlying disorder was achalasia, which was detected in nine (43%) patients. A hypertensive lower esophageal sphincter was diagnosed in three patients, diffuse esophageal spasm in five, “nutcracker” esophagus in two, and a nonspecific motor disorder in two patients. One patient had an intraoperative myocardial infarction and died. Two patients had persistent mild dysphagia after surgery. The remaining patients had complete relief of their primary symptoms. Conclusions There is a high prevalence of named motility disorders in patients with epiphrenic diverticula, and this condition is associated with the potential for lethal aspiration. Twenty-four-hour ambulatory motility testing can be helpful if the results of the stationary examination are normal or indefinite. Resection of the diverticula and a surgical myotomy of the manometrically defined abnormal segment results in relief of symptoms and protection from aspiration. PMID:11882756

  10. Use of monoclonal antibodies developed against chicken coccidia (Eimeria) to study invasion and development of Eimeria reichenowi in Florida sandhill cranes (Grus canadensis)

    USGS Publications Warehouse

    Augustine, P.C.; Olsen, G.H.; Danforth, H.D.; Gee, G.F.; Novilla, M.

    2001-01-01

    Eimeria gruis and Eimeria reichenowi are common coccidial parasites of a number of species of cranes. Until recently, little was known about either the site for invasion or the dynamics of early development of the crane coccidia because of the difficulty of identifying sporozoites and early developmental stages of these parasites by conventional staining methods. In the present study, monoclonal antibodies (MAbs) elicited against Eimeria spp. of chickens and turkeys were found to cross-react with sporozoites and developmental stages of E. reichenowi in the tissues of Florida sandhill cranes (Grus canadensis). With these Mabs, E. reichenowi sporozoites were found in specimens taken at 6 hr postinoculation (PI) from just proximal to Meckel's diverticulum in the jejunum to the ileocecal juncture. Fewer were found in the ceca and rectum and none in the duodenal loop. At 24 hr PI, there were markedly fewer sporozoites and their location had shifted to the duodenum. No stages were seen in intestinal cells at 5 days PI (DPI), but trophozoites had developed in the liver and spleen. At 10 DPI, sexual stages were detected in the intestine from the duodenal loop through Meckel's diverticulum but not in other organs. By 14 DPI, numerous developmental stages were detected in the intestine (ceca and jejunum), liver, and lungs but not in the heart, kidney, or brain. The number, location, and maturity of the stages in the ceca differed markedly from those in the jejunum.

  11. An Unusual Pelvic Mass in a Pediatric Patient: A Case Report and Review of the Pathology.

    PubMed

    Bauman, Brent D; Moertel, Christopher L; Zheng, Eugene; Louiselle, Amanda; Berdan, Elizabeth; Berger, David; Segura, Bradley

    2017-05-01

    Neurofibromatosis type 1 (NF1) is the most commonly inherited autosomal dominant disorder in humans. NF1 patients have increased risk for gastrointestinal stromal tumors (GISTs). A Meckel's diverticulum (MD) represents a persistent embryonic omphalomesenteric duct characterized as a true diverticulum located near the ileocecal valve. We report a unique clinical case whereby a patient with NF1 developed a GIST within a MD. An adolescent male with NF1 presented with persistent lower abdominal pain. Clinical evaluation demonstrated a large pelvic mass. In the operating room, the mass was noted to emerge from a MD. Final pathology demonstrated a GIST with negative margins and CD117 positivity. Patients with NF1 are at increased risk for mesenchymal tumors including malignant peripheral nerve sheath tumors. GISTs are the most important and frequent non-neurological malignancy in NF1 and develop in ∼7% of NF1 patients. GISTs tend to be multifocal in NF1; however, they rarely occur within a Meckel's diverticula. Our case represents a rare case of a patient with NF1 who developed a symptomatic GIST within a MD. We recommend utilizing laparoscopy to determine resectability and clarify the diagnosis in this unique patient population who are at risk for multiple neoplasms.

  12. Toxicity Effects of Toad (Rhinella jimi Stevaux, 2002) Venom in Chicken (Gallus gallus domesticus)

    PubMed Central

    Gadelha, Ivana Cristina Nunes; de Lima, Joseney Maia; Batista, Jael Soares; Melo, Marilia Martins

    2014-01-01

    This study aimed to evaluate the pathological changes that occur after administering different doses of R. jimi (Stevaux, 2002) parotoid glands secretion to Gallus gallus domesticus chicks. Twenty-three animals were used in this study and were divided into 5 groups that received a toad venom dose of 0, 3.0 mg/kg, 6.0 mg/kg, 10.0 mg/kg, and 25.0 mg/kg. After 48 h, the necropsy and pathological examinations were performed. No clinical signs of toxicity were observed in any group. Macroscopically, hepatomegaly, areas of liver necrosis, splenomegaly, necrotic and hemorrhagic cardiac regions, hydropericardium, dark necrotic lesions of Meckel's diverticulum, and hemorrhages in the lungs and kidneys were detected. Histopathological changes included diffuse vacuolar degeneration of hepatocytes, severe sinusoidal congestion, focal areas of hemorrhage in the parenchyma, swollen cardiac fibers, necrotic myocardial fibers, moderate to acute diffuse alveolar hemorrhage, vacuolar degeneration of the renal tubular epithelium, necrosis of renal tubules, and extensive hemorrhagic areas below the brain and cerebellar meninges. In conclusion, pathological changes of the R. jimi toxins in chicks were noted in the heart, spleen, liver, Meckel's diverticulum, lungs, and kidneys. Most of the changes were similar to those observed in humans and animals exposed to toxins from other toad species. PMID:25045748

  13. Meckel's cartilage breakdown offers clues to mammalian middle ear evolution

    PubMed Central

    Anthwal, Neal; Urban, Daniel J.; Luo, Zhe Xi; Sears, Karen E.; Tucker, Abigail S.

    2017-01-01

    A key transformation in mammalian ear evolution was incorporation of the primary jaw joint of premammalian synapsids into the definitive mammalian middle ear of living mammals. This evolutionary transition occurred in two-steps, starting with a partial or “transitional” mammalian middle ear in which the ectotympanic and malleus were still connected to the mandible by an ossified Meckel’s Cartilage (MC), as observed in many Mesozoic mammals. This was followed by MC breakdown, freeing the ectotympanic and the malleus from the mandible and creating the definitive mammalian middle ear. Here we report novel findings on the role of chondroclasts in MC breakdown, shedding light on how therian mammals lost MC connecting the ear to the jaw. Genetic or pharmacological loss of clast cells in mice and opossums leads to persistence of embryonic MC beyond juvenile stages, with MC ossification in mutant mice. The persistent MC causes a distinctive postnatal groove on the mouse dentary. This morphology phenocopies the ossified MC and Meckelian groove observed in Mesozoic mammals. Clast cell recruitment to MC is not observed in reptiles, where MC persists as a cartilaginous structure. We hypothesize that ossification of MC is an ancestral feature of mammaliaforms, and that a shift in the timing of clast cell recruitment to MC prior to its ossification is a key developmental mechanism for the evolution of the definitive mammalian middle ear in extant therians. PMID:28459103

  14. Petrous apex arachnoid cyst extending into Meckel's cave.

    PubMed

    Batra, Arun; Tripathi, Rajendra Prasad; Singh, Anil Kumar; Tatke, Medha

    2002-09-01

    A rare case of arachnoid cyst involving the petrous apex with an unusual clinical presentation has been described with special emphasis in the imaging features and importance of accurate presurgical diagnosis. Differentiation from the other benign lesions involving the petrous apex and the role of newer MR techniques in the diagnosis of these lesions has been highlighted.

  15. Rectal bleeding in a 4-month-old boy

    SciTech Connect

    Dutro, J.A.; Santanello, S.A.; Unger, F.; Goodwin, C.D.

    1986-10-24

    A case of bleeding Meckel's diverticulum is described in an infant. A 4-month-old boy was seen initially with a 24-hour history of painless hematochezia. His parents had noted two episodes of maroon-colored stool that did not appear to be associated with any abdominal distress. His medical history was unremarkable, with normal growth and development. Physical examination revealed a well-nourished, well-hydrated infant in no apparent distress. Vital signs were normal. Rectal examination revealed no masses, but bright-red blood was noted on the examining finger. Findings from the remainder of the examination were normal. An upright roentgenogram of the abdomen was obtained and demonstrated no abnormalities. The abdominal technetium scan was abnormal. An exploratory laparotomy was performed later on the day of admission.

  16. Giant appendicolith: Rare finding in a common ailment

    PubMed Central

    Singhal, Sanjeev; Singhal, Anu; Mahajan, Harsh; Prakash, Brahm; Kapur, Sunil; Arora, Pankaj K.; Tiwari, Bishwanath; Sethi, Punit

    2016-01-01

    Acute appendicitis is one of the commonest surgical emergencies worldwide. There is considerable variation in prevalence of appendicoliths with appendicitis. Most of the patients with appendicoliths are asymptomatic and they are not pathognomic for acute appendicitis. However, appendicoliths show increased association with perforation and abscess formation. Appendicolith are quite common, being present in 3% of general population and in nearly 10% cases of appendicitis. However, giant appendicoliths measuring over 2 centimeters (cms) are extremely rare. Computed Tomography (CT) has increased their pre-operative diagnosis considerably. Use of spectral analysis can give us the details of composition of the stone pre-operatively. We present a young male diagnosed pre-operatively on Non-Contrast Computed Tomography (NCCT) to have a giant calcium struvite appendicolith. On laparoscopy he had a 3 cm stone and an incidental Meckel's diverticulum and underwent appendectomy. The case is presented for the unique size of the appendicolith alongwith review of literature. PMID:27073312

  17. Clinical and Ultrasonographic Features of Secondary Intussusception in Children.

    PubMed

    Zhang, Yao; Dong, Qian; Li, Shi-Xing; Ren, Wei-Dong; Shi, Bo; Bai, Yu-Zuo; Zhang, Shu-Cheng; Zheng, Li-Qiang

    2016-12-01

    The aim of this study was to review the ultrasonographic features of secondary intussusception (SI) in children and assess the value of ultrasound in the diagnosis of pediatric SI. The authors performed a retrospective analysis on the ultrasound findings of 1977 cases of primary intussusception (PI) and 37 cases of SI in children. The SI cases were diagnosed by ultrasonography and confirmed by laparotomy or histopathologic diagnosis. The clinical and ultrasonographic features were analyzed and compared between these two groups. The age, no flatus or defecation, position, diameter and length of intussusception, the presence of free intraperitoneal liquid, and intestinal dialation at the proximal end present, all contributed to the differentiation between PI and SI (all P < 0.05). Ultrasound was able to demonstrate the pathological lead point (PLP) shadows in all of the 37 SI cases, either in the cervical part or intussusceptum of the intussusception. Among the 37 SI patients, 21 cases (56.8 %) were accurately categorized with lesions, including intestinal polyps, cystic intestinal duplication, intestinal wall lymphoma, and a small part of Meckel's diverticulum. Ultrasound can be used as a feasible and effective method to discriminate PI from SI. Once the PLP is detected, a definite diagnosis can be made. • The clinical and ultrasonographic features were compared between SI and PI. • The age, location, diameter and length of intussusception, and intestinal dilation were distinguishing features. • The causes of SI were found to be polyps, intestinal duplication, lymphoma, and Meckel's diverticulum. • Ultrasound can be used as an important method to diagnose SI. • Demonstration and confirmation of PLP are vital to diagnosing SI.

  18. Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome.

    PubMed

    Meshkat, Babak; Matcovici, Melania; Buckley, Claire; Salama, Muhammad; Perthiani, Haresh K

    2014-01-01

    Right iliac fossa (RIF) pain is one of the most common presenting complaints faced by general surgeons in the emergency department. Correct diagnosis and appropriate surgical intervention can often pose a challenge. A 12-year-old girl presented to the emergency department with a four day history of initially central acute abdominal pain, now localised in the RIF. During laparoscopy, the following findings were made: macroscopically dilated appendix, right and left gonads at the internal opening of the inguinal canal, empty pelvis with a rudimentary uterus on the right side. No evidence of fallopian tubes or connection of uterus to the vagina and broad based, non-inflamed Meckel's diverticulum. An incidental diagnosis of complete androgen insensitivity syndrome was made. Androgen insensitivity syndrome (AIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. This case report highlights the advantage of laparoscopy as a diagnostic and treatment tool in a twelve year old girl with multiple intra-abdominal findings. While the ultimate diagnosis responsible for her symptom of RIF pain was acute appendicitis, the additional diagnosis of CAIS and incidental Meckel's would have otherwise likely gone undetected. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  19. Intracorporeal Suturing and Knot Tying Broadens the Clinical Applicability of Laparoscopy

    PubMed Central

    Rivas, Homero; Cacchione, Robert N.; Ferzli, George S.

    2003-01-01

    Objective: As surgeons become more experienced with basic laparoscopic procedures like cholecystectomy, they are able to expand this approach to less common operations. However, without laparoscopic suturing skills, like those obtained with Nissen fundoplication, many operations cannot be completed laparoscopically. We present a series of 10 patients with less common surgical illnesses who were successfully treated with minimal access techniques and intracorporeal suturing. Methods: Over a 6-month period at 2 medical centers, 10 patients underwent operations with laparoscopic intracorporeal suturing and knot tying. Diagnoses included bowel obstruction due to gallstone ileus (n=1), perforated uterus from an intrauterine device (n=1), urinary bladder diverticulum (n=1), bleeding Meckel's diverticulum (n=3), and perforated duodenal ulcer (n=4). Results: Each patient was treated with standard surgical interventions performed entirely laparoscopically with intracorporeal suturing. No morbidity or mortality occurred in any patient due to the operation. Conclusions: Although each of these operations has been previously reported, as a series, they point out the importance of mastering laparoscopic suturing. Although devices are commercially available to facilitate certain suturing scenarios, we encourage residents and fellows to sew manually. We believe that none of these operations could have been completed as effectively by using a suture device. The ability to suture laparoscopically markedly broadens the number of clinical scenarios in which minimal access techniques can be used. PMID:12856844

  20. [Anastomotic false-diverticulum causing an atypical dumping syndrome. A case report].

    PubMed

    Covarelli, P; Esperti, L; Fratto, A; Cerroni, M; Marianeschi, P; Cristofani, R

    2003-02-01

    Aim of the study is to evaluate the causes of dumping syndromes following partial gastrectomies, and to report an unusual feature of dumping. A case of early dumping due to diverticular-like dilation of gastro-jejunal anastomosis is described with preoperative imaging and intraoperative picture. The surgical correction led to complete clinical remission; the common causes and physiopathological bases of dumping are reviewed and the role of en-Y gastro-jejunal reconstruction is underlined in order to reduce the risk of developing the syndrome.

  1. [Role of electrohydraulic extracorporeal shockwave lithotripsy (Dornier HM 4) in the treatment of caliceal diverticulum lithiasis].

    PubMed

    Torrecilla Ortiz, C; Marco Pérez, L; Contreras García, J; Ponce Campuzano, A; Ruíz-Lluch López, R; Roig Sanz, M; Serrallach Mila, N

    1998-10-01

    Caliceal diverticula may be congenital or acquired malformations of the collecting system, normally asymptomatic and discovered during an IVP. Indications for treatment included chronic vague flank pain, acute renal colic, urinary tract infection and hematuria. We present the results of 29 patients with symptomatic calculi in caliceal diverticula who were managed by ESWL monotherapy. All treatments were performed with electrohydraulic machine (Dornier HM 4) in ambulatory form. The average followup was 42 months. 12 patients (40%) had passed successfully all of the stone fragments, while 2 patients (7%) had passed more than half and 4 (13.5%) had passed less than half of the fragments. 66 per cent of patients had been rendered free of symptoms. The possibility of producing a satisfactory result (66% free of symptoms and 40% stone free by X ray) and the low morbidity of ESWL suggest that this treatment may be appropriate for majority of calculi in calicea diverticula.

  2. [Apoplexy, diverticulum or Alzheimer disease? Deglutition disorders in seniors must always be evaluated!].

    PubMed

    Koester, M; Nekahm-Heis, D; Zorowka, P

    2003-01-23

    Problems with swallowing (dysphagia) occur in association with numerous illnesses. In many cases, however, they are either not recognized or considered not to require clarification, since other symptoms are of greater importance. In elderly, often multimorbid patients, neurodegenerative diseases, such as apoplexy, are the most common causes of dysphagia, but medications with central nervous side effects may also impair swallowing. The difficulty may be localized either in the oropharyngeal region or in the esophagus. There is considerable danger that such complications as aspiration pneumonia and malnutrition may occur and thus increase morbidity and mortality. In addition, the quality of life of the patient may also be diminished. The family doctor has the important task of initiating a differentiated diagnosis based on careful history-taking and a clinical examination that should include an inspection of the oral cavity and the nerves supplying the brain. Early treatment, for example, involving a logopedist, can be effective.

  3. Acute cranial decompression in Meckel-Gruber syndrome and slit-ventricle syndrome with craniocephalic disproportion.

    PubMed

    Moses, Michael; Ranger, Adrianna; Yazdani, Arjang

    2011-11-01

    Slit-ventricle syndrome (SVS) is characterized by headaches associated with subnormal ventricular size in patients with shunt-treated hydrocephalus. It commonly occurs in children who have had shunts placed at an early age and is diagnosed when computed tomography scans are carried out to investigate suspected shunt obstruction with an accompanying rise in intracranial pressure (ICP). Overdrainage of cerebrospinal fluid may additionally result in craniocephalic disproportion, potentially by dampening the normal expansile pulsations of the dura against the skull, which leads to craniostenosis. Management is controversial because many strategies have only short-term benefit, and surgical intervention is understandably often seen as a last resort.We present a case of a child with SVS and craniocephalic disproportion who was treated with urgent cranial expansion due to rising ICP. Intraoperative ICP monitoring demonstrates a rapid and sustained drop in ICP, and the patient made an uneventful return to his premorbid condition. We conclude that cranial vault expansion should be considered as an effective treatment for postshunt craniocephalic disproportion in patients with SVS.

  4. Meckelin 3 Is Necessary for Photoreceptor Outer Segment Development in Rat Meckel Syndrome

    PubMed Central

    Tiwari, Sarika; Hudson, Scott; Gattone, Vincent H.; Miller, Caroline; Chernoff, Ellen A. G.; Belecky-Adams, Teri L.

    2013-01-01

    Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on photoreceptor development and survival in Wistar polycystic kidney disease Wpk/Wpk rat using immunohistochemistry, analysis of cell death and electron microscopy. MKS3 was ubiquitously expressed throughout the retina at postnatal day 10 (P10) and P21. However, in the mature retina, MKS3 expression was restricted to photoreceptors and the retinal ganglion cell layer. At P10, both the wild type and homozygous Wpk mutant retina had all retinal cell types. In contrast, by P21, cells expressing rod- and cone-specific markers were fewer in number and expression of opsins appeared to be abnormally localized to the cell body. Cell death analyses were consistent with the disappearance of photoreceptor-specific markers and showed that the cells were undergoing caspase-dependent cell death. By electron microscopy, P10 photoreceptors showed rudimentary outer segments with an axoneme, but did not develop outer segment discs that were clearly present in the wild type counterpart. At p21 the mutant outer segments appeared much the same as the P10 mutant outer segments with only a short axoneme, while the wild-type controls had developed outer segments with many well-organized discs. We conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes. PMID:23516626

  5. Meckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndrome.

    PubMed

    Tiwari, Sarika; Hudson, Scott; Gattone, Vincent H; Miller, Caroline; Chernoff, Ellen A G; Belecky-Adams, Teri L

    2013-01-01

    Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on photoreceptor development and survival in Wistar polycystic kidney disease Wpk/Wpk rat using immunohistochemistry, analysis of cell death and electron microscopy. MKS3 was ubiquitously expressed throughout the retina at postnatal day 10 (P10) and P21. However, in the mature retina, MKS3 expression was restricted to photoreceptors and the retinal ganglion cell layer. At P10, both the wild type and homozygous Wpk mutant retina had all retinal cell types. In contrast, by P21, cells expressing rod- and cone-specific markers were fewer in number and expression of opsins appeared to be abnormally localized to the cell body. Cell death analyses were consistent with the disappearance of photoreceptor-specific markers and showed that the cells were undergoing caspase-dependent cell death. By electron microscopy, P10 photoreceptors showed rudimentary outer segments with an axoneme, but did not develop outer segment discs that were clearly present in the wild type counterpart. At p21 the mutant outer segments appeared much the same as the P10 mutant outer segments with only a short axoneme, while the wild-type controls had developed outer segments with many well-organized discs. We conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes.

  6. Failed Intussusception Reduction in Children: Correlation Between Radiologic, Surgical, and Pathologic Findings.

    PubMed

    Ntoulia, Aikaterini; Tharakan, Sasha J; Reid, Janet R; Mahboubi, Soroosh

    2016-08-01

    The objective of this study was to identify causes of irreducible intussusception after contrast enema and to correlate imaging findings with surgical and histopathologic findings. Between 2005 and 2013, a total of 543 children underwent reduction of intussusception with the use of an enema technique (hereafter referred to as "enema reduction"). The medical records of 72 children (56 boys [mean age, 24.8 months; range, 3.8 months to 10.9 years] and 16 girls [mean age, 14.2 months; range, 1.5 months to 6.9 years) who underwent unsuccessful reduction and were treated surgically were retrospectively analyzed. The data collected included information on the cause of intussusception, the risk factors noted on ultrasound, operative management, outcome, and the length of the hospital stay. The imaging findings for these patients were compared with findings for statistically similar age-matched control subjects. Ultrasound detected 56 of 57 cases of intussusception, but it failed to detect the lead point in three cases and failed to detect ischemic necrosis in seven cases. Positive predictors of failed enema reduction were the presence of a distal mass and observation of the dissecting sign. Of the 72 patients who underwent surgical treatment of intussusception, 26 (36.1%) underwent laparoscopy, 38 (52.8%) underwent laparotomy, and eight (11.1%) underwent conversion from laparoscopy to laparotomy. Surgical reduction was performed in 61.1% of cases, small bowel resection in 19.4%, ileocecectomy in 12.5%, and self-reduction in 69%. Pathologic lead points (noted in 25% of cases) included lymphoid hyperplasia (n = 7), Meckel diverticulum (n = 3), Burkitt lymphoma (n = 3), enteric duplication cyst (n = 2), juvenile polyp (n = 2), and adenovirus appendicitis (n = 1). The length of the hospital stay was significantly longer after laparotomy. The distalmost location of the intussusception mass and presence of the dissecting sign on images obtained during contrast enema have a

  7. Pediatric nuclear medicine in acute care.

    PubMed

    Shammas, Amer; Vali, Reza; Charron, Martin

    2013-03-01

    Various radiopharmaceuticals are available for imaging pediatric patients in an acute care setting. This article focuses on the common applications used on a pediatric patient in acute care. To confirm the clinical diagnosis of brain death, brain scintigraphy is considered accurate and has been favorably compared with other methods of detecting the presence or absence of cerebral blood flow. Ventilation-perfusion lung scans are easy and safe to perform with less radiation exposure than computed tomography pulmonary angiography and remain an appropriate procedure to perform on children with suspected pulmonary embolism as a first imaging test in a hemodynamically stable patient with no history of lung disease and normal chest radiograph. (99m)Tc pertechnetate scintigraphy (Meckel's scan) is the best noninvasive procedure to establish the diagnosis of ectopic gastric mucosa in Meckel's diverticulum. Hepatobiliary scintigraphy is the most accurate diagnostic imaging modality for acute cholecystitis. (99m)Tc-dimercaptosuccinic acid scintigraphy is the simplest, and the most reliable and sensitive method for the early diagnosis of focal or diffuse functional cortical damage. Bone scintigraphy is a sensitive and noninvasive technique for the diagnosis of bone disorders such as osteomyelitis and fracture. Of recent, positron emission tomography imaging using (18)F-NaF has been introduced as an alternative to bone scintigraphy. (18)F-fluorodeoxyglucose-positron emission tomography has the potential to replace other imaging modalities, such as the evaluation of fever of unknown origin in pediatric patients, with better sensitivity and significantly less radiation exposure than gallium scan. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Defecography by digital radiography: experience in clinical practice*

    PubMed Central

    Gonçalves, Amanda Nogueira de Sá; Sala, Marco Aurélio Sousa; Bruno, Rodrigo Ciotola; Xavier, José Alberto Cunha; Indiani, João Mauricio Canavezi; Martin, Marcelo Fontalvo; Bruno, Paulo Maurício Chagas; Nacif, Marcelo Souto

    2016-01-01

    Objective The objective of this study was to profile patients who undergo defecography, by age and gender, as well as to describe the main imaging and diagnostic findings in this population. Materials and Methods This was a retrospective, descriptive study of 39 patients, conducted between January 2012 and February 2014. The patients were evaluated in terms of age, gender, and diagnosis. They were stratified by age, and continuous variables are expressed as mean ± standard deviation. All possible quantitative defecography variables were evaluated, including rectal evacuation, perineal descent, and measures of the anal canal. Results The majority (95%) of the patients were female. Patient ages ranged from 18 to 82 years (mean age, 52 ± 13 years): 10 patients were under 40 years of age; 18 were between 40 and 60 years of age; and 11 were over 60 years of age. All 39 of the patients evaluated had abnormal radiological findings. The most prevalent diagnoses were rectocele (in 77%) and enterocele (in 38%). Less prevalent diagnoses were vaginal prolapse, uterine prolapse, and Meckel's diverticulum (in 2%, for all). Conclusion Although defecography is performed more often in women, both genders can benefit from the test. Defecography can be performed in order to detect complex disorders such as uterine and rectal prolapse, as well as to detect basic clinical conditions such as rectocele or enterocele. PMID:28100932

  9. “Chinese Fan Spread” Distraction Technique of Laparoscopic Reduction of Intussusception

    PubMed Central

    Ong, Lin Yin; Chua, Joyce Horng Yiing; Yap, Te-Lu

    2007-01-01

    Objective: The “Chinese Fan Spread” (CFS) distraction technique for laparoscopic reduction of intussusception is herein described and its outcome and benefits are evaluated. Methods: A retrospective review was performed of all patients who underwent attempts at laparoscopic reduction of intussusception at our center. The CFS distraction technique was consistently applied in all cases. Results: Fourteen patients were identified. Median age was 2.4 years (range, 4 months to 10.3 years). Indications for surgery included (1) failed pneumatic reduction (n=11), (2) need to evaluate for lead point in a patient with 4 recurrences (n=1), (3) need to biopsy the lead point in a patient with suspected lymphoma (n=1), and (4) diagnostic laparoscopy for evaluation of hematochezia (n=1). Two patients who failed laparoscopic reduction by the CFS distraction technique also failed open manual reduction, requiring right hemicolectomy. Of the 12 (86%) who were successfully reduced laparoscopically, pathologic lead points were identified in 5 (2 acute appendicitis, 1 Meckel's diverticulum, 1 harmatomatous polyp, and 1 Burkitt's lymphoma). Lead points were excised laparoscopically or via a vertical transumbilical incision. There were no complications. Conclusion: Laparoscopic reduction of intussusception by the CFS distraction technique is effective and safe. Lead points may be dealt with together either laparoscopically or via a transumbilical incision. PMID:17761088

  10. A comparison of manual versus hydrostatic reduction in children with intussusception: single-center experience.

    PubMed

    Ocal, Servet; Cevik, Muazez; Boleken, Mehmet Emin; Karakas, Ekrem

    2014-01-01

    In recent years several techniques have been recommended for intussusception treatment. In this study, an evaluation was made of intussusception cases that presented at our clinic and had reduction applied together with saline under ultrasonography (USG) and cases, which were surgically treated. A retrospective evaluation was made of the records of 72 cases treated for a diagnosis of intussusception between January 2010 and July 2012. Patients were evaluated demographics, clinical presentation, management strategy, during the hospitalisation and outcome. A total of 72 cases which consists of 44 male and 28 female with age range between 5 and 132 months were treated with a diagnosis of intussusception. USG was applied to all cases on initial presentation. As treatment, hydrostatic reduction (HR) together with USG was applied to 47 cases. Of these, the HR was unsuccessful in 13 cases. Surgical treatment was applied to 38 cases. Of these cases, ileocolic intussusception was observed in 30 cases, ileoileal in seven cases and colocolic in one case. Meckel diverticulum was determined in five of these cases, polyps in two cases, lymphoma in two cases, lymph nodule in one case and 28 cases were observed to be idiopathic. There was no mortality in any case. HR together with USG is a safe technique in the treatment of intussusception, which also shortens the duration of hospitalisation and significantly reduces the treatment costs.

  11. Transvaginal hybrid-NOTES appendectomy in routine clinical use: prospective analysis of 13 cases and description of the procedure.

    PubMed

    Knuth, Jurgen; Heiss, Markus Maria; Bulian, Dirk Rolf

    2014-09-01

    Access-related abdominal wall injury is part of the operative trauma in laparoscopic appendectomy and accounts for complications. Minimizing this trauma by entering the abdominal cavity by means of natural orifice transluminal surgery (NOTES) may be achieved by a hybrid-appendectomy procedure using the transvaginal route plus a single transumbilical trocar. Thirteen patients were prospectively analyzed following transvaginal-hybrid NOTES appendectomy. For the procedure, rigid instruments are used with the patient in lithotomy position. The procedure is performed with two transvaginal and one transumbilical access-points. The specimen is retrieved transvaginally. All procedures were performed without additional trocars. No conversions to standard laparoscopy or open surgery were necessary. All procedures were performed in acceptable time (mean 52 min). No intraoperative complications and two (15%) postoperative complications, an infected hematoma and an abscess, occurred. They were smoothly treated with standard techniques including one laparoscopic reoperation (8%). Drain placement or resection of a Meckel's diverticulum was easily managed without conversion. Gynecological short-term follow-up revealed one complication, which was vaginal fungal infection. It occurred after a 7-day course of antibiotics. This method is found to be feasible intraoperatively and early postoperatively in terms of possibility to manage a variety of intraoperative findings that may occur during planned appendectomy, low intraoperative complications, and management of postoperative complications using established concepts. We, therefore, consider the procedure safe and continue to offer hybrid-NOTES appendectomy to suitable patients.

  12. De novo pericentric inversion of chromosome 9 in congenital anomaly.

    PubMed

    Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

    2010-09-01

    The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

  13. Serous Cystadenocarcinoma Arising in Presumed Vitelline Duct Remnant: A Case Report and Implications in the Management of Cancer of Unknown Primary

    PubMed Central

    Lei, Li

    2016-01-01

    Background. Malignant neoplasms arising in Meckel's diverticulum, a vitelline duct remnant, are rare yet well-documented. Case Presentation. A 53-year-old previously healthy female presented with an enlarging midline abdominal wall mass. A computed tomography scan revealed a mass involving the linea alba, bilateral rectus abdominis, and subcutaneous fat. Extensive clinical workup failed to demonstrate other lesions, except local and paratracheal/hilar lymphadenopathy. Histopathologic examination of the resected tumor demonstrated a spectrum of serous neoplasia including serous cystadenoma, papillary serous carcinoma with numerous Psammoma bodies, and a poorly differentiated component. Immunophenotypically, the tumor cells were strongly positive for CK7, CK19, CA19.9, and MUC1 but negative for other lineage markers, findings suggestive of pancreatobiliary type differentiation. The patient died of the disease one year after the initial presentation despite chemotherapy, radiation, and surgery. Conclusion. We present a case of adenocarcinoma arising from the anterior midline abdominal wall, from presumed vitelline duct remnant, with histologic and immunophenotypic features of serous cystadenocarcinoma of pancreatobiliary origin. Though the origin from vitelline duct remnant is difficult to prove in this single case, understanding tumorigenesis of embryonic remnant origin is potentially important to improve the management of cancer of unknown primary. PMID:27999702

  14. Computed tomographic enteroclysis with air and virtual enteroscopy: protocol and feasibility for small bowel evaluation.

    PubMed

    Yoshikawa, Toshiyuki; Takehara, Yasuo; Kikuyama, Masataka; Takeuchi, Ken; Hanai, Hiroyuki

    2012-04-01

    We describe our optimized protocol for computed tomographic enteroclysis using air as the contrast material and report an early assessment of its clinical performance. Thirty-one examinations of computed tomographic enteroclysis with air were performed in 30 patients in our hospital from September 2008 to September 2010. The volume of injected air and intra-intestinal pressure were monitored in 16 cases. The data were reviewed for ratios of successful whole small bowel depictions out of the total number of examinations for patients without stenosis. Efforts were made to confirm depicted abnormal findings when possible by other imaging techniques, intra-operative findings, histopathological findings, and subsequent history. The injected air volume and final intra-intestinal pressure were 2925 ± 686 ml and 24.5 ± 7.1cm H₂O in cases without stenosis. In 19 examinations with anterograde air injection for patients without stenosis, whole small bowel depiction was achieved in 16 (84.2%). Computed tomographic enteroclysis with air was useful for detecting strictures (in Crohn's disease, malignant lymphoma, metastatic carcinoma), Meckel's diverticulum, and for excluding other obstructive conditions in ileus. Computed tomographic enteroclysis with air has a potential to enable the exploration of the whole small bowel, thereby providing information of small bowel lesions that complements other techniques. Copyright © 2011 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  15. Uncommon Surgical Causes Of Right Lower Quadrant Pain In Children. Single Center Experience.

    PubMed Central

    Papageorgiou, Irene; Kepertis, Chrysostomos; Sfoungaris, Dimitrios; Spyridakis, Ioannis

    2015-01-01

    Right lower quadrant pain is one of the major reasons of children reference at the emergency department. The most common surgical cause, which needs appropriate management, is acute appendicitis. The purpose of this study is to reveal uncommon surgical causes found during surgery in children who were misdiagnosed as acute appendicitis in our department during the last 10 y. Data of patients who have undergone appendicectomy during a ten year period (since Feb 2004 until Mar 2014) were collected retrospectively. Eight hundred twenty children have undergone appendicectomy in our department. In six children another uncommon cause of the symptoms was revealed during surgery. In one patient the cause was a duplication cyst of the terminal ileum, in two patients an omental torsion, in one patient a meckel diverticulum torsion, in one patient a splenic rupture and in one patient a retroperitoneal tumor. All of the patients were successfully managed during the first operation. The possibility of other uncommon causes of right quadrant abdominal pain should always be kept in mind, especially when there is a negative appendicitis. However, the transaction of further paraclinical examinations – ultrasonography or computed tomography- preoperatively is under discussion. Nevertheless a thoroughly taken case history is undoubtedly always necessary. PMID:26155519

  16. Primary gastrointestinal stromal tumour of the ileum pre-operatively diagnosed as an abdominal abscess

    PubMed Central

    Rubini, Patrizia; Tartamella, Francesco

    2016-01-01

    The present case report described the acute presentation, diagnosis and management of a primary gastrointestinal stromal tumour (GIST) of the ileum. A male patient (age, 51 years) was admitted to Maggiore Hospital (Parma, Italy) due to presenting with fever, dysuria and lower abdominal pain. Ultrasonography and computed tomography showed a 7,5×5,5-cm pelvic mass containing air and purulent fluid indicative of an intraperitoneal abscess. The patient was subjected to diagnostic laparoscopy, which revealed a huge, soft cystic mass arising from the small bowel. The procedure was then converted to an open exploration through a midline incision. Ileal resection including a Meckel's diverticulum was performed. Macroscopic examination revealed that the cystic mass was filled with a large amount of pus, probably due to communication between the tumour mass and the small bowel lumen. In fact, the surgical specimen showed enteric leakage from the ileal mucosal ulcer into the tumour mass. Histopathology and immunohistochemistry of the abscess wall identified a spindle-cell mesenchymal-type, c-KIT-positive neoplasm. The post-operative course was uneventful and adjuvant imatinib mesylate was administered for 1 year. Follow-up by computed tomography demonstrated no tumour recurrence at 72 months after surgery. PMID:27900093

  17. Tales from previous times: important eponyms in pediatric surgery.

    PubMed

    Berger, Michael; Muensterer, Oliver; Harmon, Carroll M

    2014-01-01

    The use of eponyms in medicine has a long and captivating tradition, which applies to pediatric surgery as well. Unfortunately, even though these eponyms are widely used, oftentimes the fascinating personalities and lives behind these names remain unrecognized or underappreciated, especially among residents, fellows and younger-generation pediatric surgeons. Therefore, in this article, we review 15 names that are frequently used as eponyms in modern pediatric surgery and hereby enlighten the personalities behind them. Given their particular frequency, we choose the following eponyms: Ramstedt pylorotomy, Nissen fundoplication, Murphy's sign and sequence, McBurney's sign and incision, Meckel's diverticulum, Kasai portoenterostomy, Ladd's procedure, Morgagni and Bochdalek hernia, Ravitch operation, Nuss procedure, Hirschsprung disease, Swenson pullthrough, Peña procedure and Wilms tumor. A detailed description of the historical importance of these personalities and their contribution to our field is given. Without the appropriate historical background, it is difficult for the current younger and next generation pediatric surgeons to grasp the full spectrum of the ongoing progress in our field. Therefore, our article conveys not only important insight into the past, but also provides young surgeons with an important historical perspective essential to understand the current and future developments in modern pediatric surgery.

  18. Locations of gut-associated lymphoid tissue in the 3-month-old chicken: a review.

    PubMed

    Casteleyn, C; Doom, M; Lambrechts, E; Van den Broeck, W; Simoens, P; Cornillie, P

    2010-06-01

    The lymphoid tissue that is associated with the intestinal tract, the so-called gut-associated lymphoid tissue (GALT), is well developed in the chicken. Depending on the location, it is present as aggregations of lymphoid cells, or organized in lymphoid follicles and tonsils. From proximal to distal, the intestinal tract contains a pharyngeal tonsil, diffuse lymphoid tissue and lymphoid follicles in the cervical and thoracic parts of the oesophagus, an oesophageal tonsil, diffuse lymphoid tissue in the proventriculus, a pyloric tonsil, Peyer's patches, Meckel's diverticulum, two caecal tonsils, diffuse lymphoid tissue in the rectum, the bursa of Fabricius, and diffuse lymphoid tissue in the wall of the proctodeum. The lymphoid tissues are frequently covered by a lympho-epithelium that is infiltrated by lymphoid cells. Such an epithelium often contains M or microfold cells, which are specialized in antigen sampling and transport antigens to the underlying lymphoid tissue. A solid knowledge of the avian GALT could contribute to the development of vaccines to be administered orally. Additionally, immune stimulation via pre- and probiotics is based on the presence of a well-developed intestinal immune system.

  19. Description of the goose coccidium Eimeria stigmosa (Klimes, 1963), with evidence of intranuclear development.

    PubMed

    Gajadhar, A A; Rainnie, D J; Cawthorn, R J

    1986-08-01

    Oocysts of Eimeria stigmosa isolated from a wild juvenile lesser snow goose (Anser caerulescens caerulescens) were used in experimental infections of laboratory-reared geese. The structure of oocysts is described; a peculiar bumpy surface and a calyx-like thickening around the micropyle are illustrated by scanning electron microscopy. Experimentally infected geese had reduced feed intake and passed blood in their feces. Six days post-inoculation (p.i.) oocysts were passed for about 24 hr. Oocyst production was not increased in dexamethasone-treated geese. Complete sporulation of oocysts occurred after about 3.5 days. Developmental stages in lesser snow geese were occasionally present throughout the intestine, but were concentrated at Meckel's diverticulum, and at foci in the ileum and colon. Meronts were found 2, 3 and 4 days p.i. and gamonts and developing oocysts were observed 4, 5 and 5.5 days p.i. All endogenous stages of E. stigmosa were present in the nucleoplasm of enterocytes, primarily at the apical half of villi. Nuclear hypertrophy occurred in infected cells and nuclei containing gamonts were enlarged up to 4 times their normal size. Mild lesions were observed in the intestine of infected geese. Patent infections were established in lesser snow, Canada (Branta canadensis) and domestic (Anser anser domesticus) geese, but oocysts were not passed by inoculated ducks.

  20. A review of intussusception cases involving failed pneumatic reduction and re-intussusception.

    PubMed

    Özcan, Rahşan; Hüseynov, Mirzaman; Emre, Şenol; Tütüncü, Çiğdem; Ertem Vehid, Hayriye; Dervişoğlu, Sergülen; Adaletli, İbrahim; Celayir, Sinan; Tekant, Gonca

    2016-05-01

    The aim of the present study was to evaluate cases in which intussusception was unsuccessfully treated with pneumatic reduction (PR), and intussusception recurred following PR. The medical records of 401 patients who presented with intussusception between 2003 and 2014 were retrospectively analyzed. Included were 61 patients, 20 of whom underwent unsuccessful PR (Group 1), and 41 of whom experienced intussusception recurrence following PR (Group 2). Treatment and outcome were summarized. In Group 1 (mean age: 14.2 months; range: 2.5 months-6 years) surgery was indicated due to PR failure in 15 patients, and perforation occurred during PR in 5. In these 5 patients, age was under 1 year (range 6-9 months) and mean time to presentation was 3 days (range 2-4). During laparotomy, pathologies were noted: mesenteric lymphadenopathy (LAP) and/or Peyer's patch hyperplasia was observed in 15 cases, Meckel's diverticulum in 5 cases. In Group 2 (mean age: 20 months; range: 3 months-6 years), intussusception developed after successful PR in 41 patients, most frequently within the first 24 hours (21.51%). Of the 41 patients, recurrent intussusception (RI) was treated with PR in 36, and laparotomy in 5. Operative findings were mesenteric LAP in 4 and polyp in 1. PR is effective for the treatment of intussusception and recurrences. Delayed presentation reduces the success rate. In the event of failure, a lead point is usually encountered at laparotomy.

  1. Intussusception in a premature neonate: A rare and often misdiagnosed clinical entity.

    PubMed

    Prakash, Advait; Doshi, Bhavesh; Singh, Sangram; Vyas, Tanmay; Jain, Anvesh

    2015-01-01

    Intussusception is a very rare cause of intestinal obstruction in neonates. It is of extremely rare occurrence among premature neonates. We present a case of 11-day-old premature neonate who presented with abdominal distension, intolerance to feeds, vomiting, significant bilious aspirate and bleeding per rectum. The initial diagnosis of necrotizing enterocolitis (NEC) led to a delay in the diagnosis. On exploratory laparotomy, it turned out to be a case of ileo-colic intussusception with Meckel's diverticulum as a lead point. This site of intussusception (ileo-colic) and presence of a lead point among premature neonate is of exceedingly rare occurrence and very few such cases have been reported. In this article, the published work about clinical features and management on intussusceptions in premature neonates has been reviewed. The authors intend to highlight the difficulty in distinguishing the NEC and intussusception. Subtle clinical and radiological features which can help in differentiating the two conditions have been emphasized. This can avoid the delay in diagnosis and management which can prove critical. High index of suspicion with timely intervention is the key for optimizing outcome. A diagnosis of intussusception should always be considered in any preterm infant with suspected NEC.

  2. Hospitalization rates for intussusception in children aged 0-59 months from 2009 to 2014 in Italy.

    PubMed

    Restivo, Vincenzo; Costantino, Claudio; Tramuto, Fabio; Vitale, Francesco

    2017-02-01

    The real cause of intussusception is not fully understood and a variety of conditions have been associated with it (Meckel diverticulum, polyps, duplication cysts, parasites, Henoch-Schönlein purpura, cystic fibrosis, hemolytic-uremic syndrome and infectious gastroenteritis). Furthermore few European countries, following WHO recommendation to monitor baseline incidence of intussusception before implementation of immunization program for rotavirus, used intussusception rate as a baseline value to compare the same figures in the period before and after introduction of vaccination. In this study, data of intussusception hospitalizations occurred among Italian children aged 0 through 59 months from 2009 to 2014 were analyzed. A total amount of 3,088 children were included, accounting for a hospitalization rate of 20.2 per 100,000. Overall, the hospitalization rate for intussusception had a slight increase in trend from 2009 to 2014 (18%). In particular children 0-11 months had a hospitalization rate higher than 12-59 months with an aggregate value of 36 Vs. 16 per 100,000 respectively. Among all children hospitalized for intussusception a total of 239 (7.7%) had also a previous or concomitant hospitalization for gastroenteritis. This study demonstrates that Italian hospitalizations for intussusception are increasing by time and the role played by different risk factors, including acute gastroenteritis, have to be investigated in the future. These data could be useful to monitor intussusception hospitalization in the perspective of anti-rotavirus vaccination introduction in Italy.

  3. Acute Abdominal Pain in Children.

    PubMed

    Reust, Carin E; Williams, Amy

    2016-05-15

    Acute abdominal pain accounts for approximately 9% of childhood primary care office visits. Symptoms and signs that increase the likelihood of a surgical cause for pain include fever, bilious vomiting, bloody diarrhea, absent bowel sounds, voluntary guarding, rigidity, and rebound tenderness. The age of the child can help focus the differential diagnosis. In infants and toddlers, clinicians should consider congenital anomalies and other causes, including malrotation, hernias, Meckel diverticulum, or intussusception. In school-aged children, constipation and infectious causes of pain, such as gastroenteritis, colitis, respiratory infections, and urinary tract infections, are more common. In female adolescents, clinicians should consider pelvic inflammatory disease, pregnancy, ruptured ovarian cysts, or ovarian torsion. Initial laboratory tests include complete blood count, erythrocyte sedimentation rate or C-reactive protein, urinalysis, and a pregnancy test. Abdominal radiography can be used to diagnose constipation or obstruction. Ultrasonography is the initial choice in children for the diagnosis of cholecystitis, pancreatitis, ovarian cyst, ovarian or testicular torsion, pelvic inflammatory disease, pregnancy-related pathology, and appendicitis. Appendicitis is the most common cause of acute abdominal pain requiring surgery, with a peak incidence during adolescence. When the appendix is not clearly visible on ultrasonography, computed tomography or magnetic resonance imaging can be used to confirm the diagnosis.

  4. Intussusception caused by heterotopic gastric mucosa in small intestine: a case report.

    PubMed

    Anand, Priyanka; Singh, Sompal; Sarin, Namrata

    2017-09-12

    Intestinal intussusception is the most frequent cause of small bowel obstruction in children between the ages of 2 months and 5 years and often remains idiopathic in etiology, even after surgery. On microscopic examination, in intussusception normal mucosa is noted but in a few cases heterotopic tissue can be seen. Heterotopic gastric mucosa in the small intestine is extremely rare except for its occurrence in remnants of Meckel's diverticulum. In view of the rarity of this condition, we report a case of ectopic gastric mucosa in the small intestine that was not associated with remnants of vitelline duct. A 6-year-old boy of Indo-Aryan ethnicity from India presented with episodes of acute abdominal pain and distension with vomiting and non-passage of stools. On ultrasonography intussusception was suspected. A laparotomy was done and the ileal segment (tip of intussusception) was sent for histopathological examination. On histopathology, sections from the tip of intussusception showed extensive gastric metaplasia of the mucosa. A definitive diagnosis of heterotopic gastric mucosa is established by histopathological examination and it is important to differentiate heterotopia, which is a developmental anomaly, from metaplasia, which is an acquired condition. Heterotopic gastric mucosa is usually clinically silent and surgical intervention can be considered in patients with complications such as gastrointestinal hemorrhage and intestinal obstruction.

  5. Obscure bleeding colonic duplication responds to proton pump inhibitor therapy.

    PubMed

    Jacques, Jérémie; Projetti, Fabrice; Legros, Romain; Valgueblasse, Virginie; Sarabi, Matthieu; Carrier, Paul; Fredon, Fabien; Bouvier, Stéphane; Loustaud-Ratti, Véronique; Sautereau, Denis

    2013-09-21

    We report the case of a 17-year-old male admitted to our academic hospital with massive rectal bleeding. Since childhood he had reported recurrent gastrointestinal bleeding and had two exploratory laparotomies 5 and 2 years previously. An emergency abdominal computed tomography scan, gastroscopy and colonoscopy, performed after hemodynamic stabilization, were considered normal. High-dose intravenous proton pump inhibitor (PPI) therapy was initiated and bleeding stopped spontaneously. Two other massive rectal bleeds occurred 8 h after each cessation of PPI which led to a hemostatic laparotomy after negative gastroscopy and small bowel capsule endoscopy. This showed long tubular duplication of the right colon, with fresh blood in the duplicated colon. Obscure lower gastrointestinal bleeding is a difficult medical situation and potentially life-threatening. The presence of ulcerated ectopic gastric mucosa in the colonic duplication explains the partial efficacy of PPI therapy. Obscure gastrointestinal bleeding responding to empiric anti-acid therapy should probably evoke the diagnosis of bleeding ectopic gastric mucosa such as Meckel's diverticulum or gastrointestinal duplication, and gastroenterologists should be aware of this potential medical situation.

  6. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

    Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA), compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2%) were diagnosed as having 58 anomalies. The majority of patients had presented in the 3rd month of life; mean age was 81 ± 33 days (range = 20-150 days). There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9%) had vascular anomalies, 13 patients (22.4%) had hernias (umbilical-10, inguinal-3), 7 patients (12.1%) had intestinal malrotation, 4 patients (6.8%) had choledochal cyst, 1 patient (1.7%) had Meckel's diverticulum, 3 patients (5%) had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1), 2 patients (3.4%) had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4%) had spleniculi, and 2 patients (3.4%) were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a “generalized” insult during embryogenesis rather than a “localized” defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports. PMID:26862288

  7. Widespread extrahepatic expression of acute-phase proteins in healthy chicken (Gallus gallus) tissues.

    PubMed

    Marques, Andreia T; Nordio, Laura; Lecchi, Cristina; Grilli, Guido; Giudice, Chiara; Ceciliani, Fabrizio

    2017-08-01

    Acute phase proteins (APP) are plasma proteins that can modify their expression in response to inflammation caused by tissue injury, infections, immunological disorders or stress. Although APP are produced mainly in liver, extrahepatic production has also been described. As a prerequisite to get insight the expression of APP in chicken during diseases, this study investigated the presence of five APP, including alpha1-acid glycoprotein (AGP), Serum Amyloid A (SAA), PIT54, C-Reactive protein (CRP) and Ovotransferrin (OVT) in twenty tissues collected from healthy chicken (Gallus gallus) by quantitative Real Time PCR and immunohistochemistry. As expected, APP gene abundance was higher in liver compared with other tissues. The mRNA coding for CRP, OVT and SAA was detected in all analyzed tissues with a higher expression in gastrointestinal tract, respiratory and lymphatic samples. SAA expression was particularly high in cecal tonsil, lung, spleen and Meckel's diverticulum, whereas OVT in lung, bursa of Fabricius and pancreas. AGP and PIT54 mRNA expression were detected in all tissues but at negligible levels. Immunohistochemical expression of AGP and OVT was variably detected in different organs, being identified in endothelium of every tissue. Positive cells were present in the epithelium of the mucosal layer of gastrointestinal tract and kidney. Lung and central nervous system stained for both proteins. No positive staining was detected in lymphoid tissues and muscle. These results suggest that most tissues can express different amount of APP even in healthy conditions and are therefore capable to mount a local acute phase reaction. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. Factors determining the need for operative reduction in children with intussusception: a population-based study.

    PubMed

    Somme, Stig; To, Teresa; Langer, Jacob C

    2006-05-01

    The objective of this study is to determine if children presenting to a nonteaching hospital were at greater risk for operative reduction of intussusception than those presenting to a teaching hospital. This population-based 8-year study included all children younger than 6 years with intussusception in the province of Ontario, Canada. Multiple logistic regression was used to model markers for operative reduction including age, sex, coexisting conditions, hospital type, and interhospital transfers. Of the 961 children with intussusception, 25.4% had operative reduction. Risk factors for operative reduction were a diagnosis of Meckel's diverticulum and transfer from one institution to another after the initial diagnosis. One hundred forty-eight (15.4%) were transferred. Of those transferred and initially admitted to a nonteaching hospital, 87.4% (125/143) were transferred to a teaching hospital. Risk of operative reduction was higher in children transferred more than 1 day after admission (52.0% vs 39.0%). Odds ratios after adjusting for age, sex, and hospital type were 1.95 (95% confidence interval, 1.28-2.98; P < . 001) for those transferred on the same day and 3.31 (95% confidence interval, 1.34-7.28; P < .01) for those transferred after 24 hours. Children who were presented to a nonteaching hospital and later transferred to a teaching hospital were at greater risk for operative reduction of intussusception, in particular, those who were transferred more than 1 day after admission. These data underline the importance of early diagnosis and timely management of intussusception.

  9. [Current diagnostic-therapeutic trends in treatment of pediatric appendicitis].

    PubMed

    Malnati, R; Capasso, G; Stagni, S; Bua, L; Albisetti, A; Erenbourg, L; Paesano, P L

    1994-03-01

    Acute appendicitis is the first cause of emergency surgery in children. Actually, emergency abdominal sonography has evolved in differential diagnosis of acute appendicitis in children to differentiate it from other causes of acute abdomen as mesenteric lymphoadenitis, acute right pyelonephritis, acute diverticulitis in Meckel's diverticulum, intestinal intussusception, regional enterits, primary peritonitis, anaphylactoid purpura of Henoch-Schonlein. The aim of this study is the evaluation of the usefulness of abdominal sonography in diagnosing acute appendicitis in our current series of pediatric patients. We have operated 102 patients afflicted by appendicitis admitted to the pediatric department of Ospedale San Raffaele, Milano in a period of 5 years and operated on for appendectomy. In the last 2 years 36 patients were evaluated with abdominal sonography. This diagnostic tool showed in 34 (94.4%) a liquid effusion, sometimes thick of the right iliac fossa. In 2 patients the appendix had thickened layers, was edematous and the lumen was clearly filled with debris. Abdominal sonography has given a clear cut picture of the acute inflammatory process of the appendix. None of these patients has suffered from septic or obstructive complications. Mean duration of hospital stay was 6.35 days (3-15 days). Differential diagnosis of acute appendicitis can be extremely variable, from simple, paradigmatic situations to the most intriguing ones. This concept is well emphasized by William Silen when he says that "differential diagnosis of acute appendicits is an encyclopedic compendium of every abdominal disease that causes pain" in the 11th edition of Harrison's Principles of Internal Medicine.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. Fasting for haemostasis in children with gastrointestinal bleeding.

    PubMed

    Luo, Shuang-Hong; Guo, Qin; Liu, Guan J; Wan, Chaomin

    2016-05-19

    Gastrointestinal bleeding refers to loss of blood from any site of the digestive tract. In paediatric clinical practice, it is usually a complaint of children attending the emergency department as a symptom of diseases such as ulcers, gastric or oesophageal varices, gastritis, Mallory-Weiss tears, anorectal fissures, allergic colitis, infectious colitis, intussusception, Henoch-Schonlein purpura, and Meckel's diverticulum; it also occurs with high incidence in critically ill children hospitalised in intensive care units and is caused by stress-induced gastropathy. No matter what the cause of gastrointestinal bleeding, fasting is believed to be necessary due to the fear that eating may affect haemostasis or aggravate bleeding. To assess the effects and safety of fasting for haemostasis in gastrointestinal bleeding in children. We searched EBM Reviews - the Cochrane Central Register of Controlled Trials (CENTRAL) (May 2016), Ovid MEDLINE(R) (1946 to 3 May 2016), EMBASE (1980 to 2016 Week 18), Chinese Biomedical Database (CBM) (1978 to 3 May 2016), China National Knowledge Infrastructure (CNKI) (1979 to 3 May 2016), VIP Database (1989 to 4 May 2016) and Wanfang Data (1990 to 4 May 2016). We used no restrictions on language or study setting and limited searches in CNKI and Wanfang Data to the medical field. Randomised controlled trials (RCTs) or quasi-RCTs in children with gastrointestinal bleeding that compared fasting with feeding. Two review authors independently screened the literature search results, and there were no disagreements. We identified no RCTs or quasi-RCTs that compared the effects and safety of fasting with feeding for haemostasis in children with gastrointestinal bleeding. No study fulfilled the criteria for considering studies for our review. There is currently no information available from RCTs or quasi-RCTs to support or refute the use of fasting for haemostasis in children with gastrointestinal bleeding.

  11. [A rare complication due to diverticulitis].

    PubMed

    Di Bernardo, N; D'Ambrosio, B; Mirenda, F; Cittadino, L; Vena, M

    1992-01-01

    The AA. report about a case of hepatic abscess found in a operated patient for perforation of a sigmoid diverticulum. The AA. made some consideration on the rarity of the hepatic abscess as complication of diverticulum perforation.

  12. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

    PubMed

    Bergmann, Carsten; Fliegauf, Manfred; Brüchle, Nadina Ortiz; Frank, Valeska; Olbrich, Heike; Kirschner, Jan; Schermer, Bernhard; Schmedding, Ingolf; Kispert, Andreas; Kränzlin, Bettina; Nürnberg, Gudrun; Becker, Christian; Grimm, Tiemo; Girschick, Gundula; Lynch, Sally A; Kelehan, Peter; Senderek, Jan; Neuhaus, Thomas J; Stallmach, Thomas; Zentgraf, Hanswalter; Nürnberg, Peter; Gretz, Norbert; Lo, Cecilia; Lienkamp, Soeren; Schäfer, Tobias; Walz, Gerd; Benzing, Thomas; Zerres, Klaus; Omran, Heymut

    2008-04-01

    Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression pattern of ciliary proteins. However, little is known about the molecular mechanisms leading to this dramatic diversity of phenotypes. We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration. Here, we chose a combinatorial approach in mice and humans to define the phenotypic spectrum of NPHP3/Nphp3 mutations and the role of the nephrocystin-3 protein. We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice. In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). On the functional level, we show that nephrocystin-3 directly interacts with inversin and can inhibit like inversin canonical Wnt signaling, whereas nephrocystin-3 deficiency leads in Xenopus laevis to typical planar cell polarity defects, suggesting a role in the control of canonical and noncanonical (planar cell polarity) Wnt signaling.

  13. Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

    PubMed Central

    Bergmann, Carsten; Fliegauf, Manfred; Brüchle, Nadina Ortiz; Frank, Valeska; Olbrich, Heike; Kirschner, Jan; Schermer, Bernhard; Schmedding, Ingolf; Kispert, Andreas; Kränzlin, Bettina; Nürnberg, Gudrun; Becker, Christian; Grimm, Tiemo; Girschick, Gundula; Lynch, Sally A.; Kelehan, Peter; Senderek, Jan; Neuhaus, Thomas J.; Stallmach, Thomas; Zentgraf, Hanswalter; Nürnberg, Peter; Gretz, Norbert; Lo, Cecilia; Lienkamp, Soeren; Schäfer, Tobias; Walz, Gerd; Benzing, Thomas; Zerres, Klaus; Omran, Heymut

    2008-01-01

    Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression pattern of ciliary proteins. However, little is known about the molecular mechanisms leading to this dramatic diversity of phenotypes. We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration. Here, we chose a combinatorial approach in mice and humans to define the phenotypic spectrum of NPHP3/Nphp3 mutations and the role of the nephrocystin-3 protein. We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice. In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). On the functional level, we show that nephrocystin-3 directly interacts with inversin and can inhibit like inversin canonical Wnt signaling, whereas nephrocystin-3 deficiency leads in Xenopus laevis to typical planar cell polarity defects, suggesting a role in the control of canonical and noncanonical (planar cell polarity) Wnt signaling. PMID:18371931

  14. Association between Oesophageal Diverticula and Leiomyomas: A Report of Two Cases

    PubMed Central

    Chowdhry, Muhammad; Lorenzi, Bruno; Kadirkamanathan, Sritharan; Charalabopoulos, Alexandros

    2016-01-01

    We report two rare cases of female patients presenting with oesophageal leiomyoma associated with oesophageal diverticulum, both of whom were surgically managed. Oesophageal leiomyoma and oesophageal diverticulum are uncommon as separate entities and rare as combined disease presentation. Clinicians need to be aware of the rare combination of the two entities and need to be able to exclude the presence of a tumour (benign or malignant) within a diverticulum and so plan the optimum treatment. Herein, we present two cases of oesophageal leiomyoma within oesophageal diverticulum and we try to elucidate the association between the two. To date, there is no consensus whether a diverticulum is secondary to a leiomyoma or, on the contrary, a leiomyoma arises within a diverticulum. PMID:27885346

  15. A note on sampling digesta from the ileum of broilers in phosphorus digestibility studies.

    PubMed

    Rodehutscord, M; Dieckmann, A; Witzig, M; Shastak, Y

    2012-04-01

    The responses of broilers to increments of dietary P concentration in P retention and P prececal digestibility were studied in 2 experiments using Ross 308 broilers in their fourth week of age. The low-P basal diet was mainly based on corn, potato protein, and corn starch. Titanium dioxide was used as the indigestible marker. Monobasic calcium phosphate was added in 6 (experiment 1) or 5 (experiment 2) graded levels up to a maximum of 8.1 g of P/kg of the diet. Five (experiment 1) and 6 (experiment 2) replicated pens of 10 birds were used. Excreta were collected from trays underneath the pens. Birds were asphyxiated by carbon dioxide exposure and the ileum (from Meckel's diverticulum to 2-cm anterior to the ileo-ceca-colonic junction) was dissected. Digesta was collected from the entire section (experiment 1) or from 3 subsections of equal lengths (experiment 2). Excretion of P increased linearly with increasing dietary P concentration up to a level of about 5.2 g of P/kg of the diet and increased nonlinearly with further increase in dietary P. In contrast, P flow in the ileum increased linearly over the entire range of P intake. Up to the level of 5.2 g of P/kg of the diet, P excretion was slightly lower than P flow in the ileum, but responses in P excretion and P flow in the ileum were similar, suggesting that P excretion with urine is very low and unaffected by P intake when the birds are supplied with P below their requirement. Between the 3 subsections of the ileum, calculated digestibility was significantly different for the basal diet and the diet with the 3 lowest levels of P supplementation. We concluded that the response in P prececal digestibility to increments in dietary P concentration is linear over a wider range of dietary P than the response in P retention. When digesta is collected from the ileum for determination of P prececal digestibility, the first third of the ileum should not be considered.

  16. [Nuclear medicine today].

    PubMed

    Dujmović, F

    1999-01-01

    gastrointestinal disorders, such as diagnosis of malabsorption of vitamin B-12, malabsorption of bile acids or diagnosis of gastrointestinal bleeding caused by ectopic gastric mucosa in persisting Meckel's diverticulum. Cerebral blood flow studies and positron emission tomography are widely used in diagnostics of various neurological and psychiatric diseases. Thyroid scintigraphy is commonly used to assess a thyroid nodule. Radioisotopes are used to localize primary malignant tumors in oncology, and also they are used in therapy of certain disorders. Nuclear medicine must remain an integral part of health care. Dental of nuclear medicine services, from professional point of view, is therefore unjustified.

  17. 64-section multiphase CT enterography as a diagnostic tool in the evaluation of obscure gastrointestinal bleeding.

    PubMed

    Sodhi, Jaswinder Singh; Zargar, Showkat Ali; Rashid, Wasim; Shaheen, Feroz; Singh, Manjeet; Javid, Gul; Ali, Sadaf; Khan, Bashir Ahmad; Yattoo, Ghulam Nabi; Shah, Altaf; Gulzar, Ghulam Mohamad; Khan, Mushtaq Ahmed; Ahmad, Zeeshan

    2012-04-01

    Small bowel follow through (SBFT) and enteroclysis have low sensitivity in picking up lesions in obscure gastrointestinal bleed (OGIB). Computed tomographic enterography (CT-EG), performed with 64-slice multiphase CT system by using large volumes of ingested neutral enteric contrast material, has high spatial and temporal resolution in visualization of the small bowel wall and lumen. The role of 64-slice multiphase CT-EG in the evaluation of OGIB is still evolving, and data on this role are scarce. We evaluated the efficacy of 64-slice multiphase CT-EG using polyethylene glycol (PEG) electrolyte solution as neutral contrast in patients of OGIB. CT-EG was performed with 64-slice multiphase CT system using large volume (2,000 mL) of PEG electrolyte solution as oral contrast in patients of OGIB. Thirty-five patients (21 men, age 41.4 [13.5] y, range 19-70 year) with OGIB underwent CT-EG; 20 patients had overt OGIB whereas 15 patients had occult OGIB. Among 15 patients with occult OGIB, 10 patients had iron deficiency anemia (IDA) with fecal occult blood test (FOBT) positive and 5 had IDA with FOBT negative. Thirty-two patients (92 %) completed the procedure successfully. The total time taken for the ingestion of 2,000 mL of PEG electrolyte solution was median 64 (range 60-78) minutes. Adequate luminal distension of small bowel was seen in 29 (90.6 %) patients for successful interpretation of radiological images. Fifteen of 32 (46.9 %) patients had positive findings on CT-EG; 12 of them underwent exploratory laparotomy. The surgical findings were in conformity with CT-EG findings in all patients, which included gastrointestinal stromal tumors (GIST; n = 6), carcinoid (1), Meckel's diverticulum (1), small bowel adenocarcinoma (2) and jejunal vascular malformation (2). 64-slice multiphase CT-EG is a useful investigation in the evaluation of both occult and overt OGIB.

  18. Acute abdomen due to Meckel’s enterolith: Case report and review of the literature

    PubMed Central

    Yenidoğan, Erdinç; Kayaoğlu, Hüseyin Ayhan; Okan, İsmail; Özsoy, Zeki; Tali, Servet; Şahin, Mustafa

    2015-01-01

    Meckel’s diverticulum is a rare condition with an incidence of 1–3% in general population. It is usually asymptomatic and is incidentally detected during laparotomy/laparoscopy. Enterolith formation within Meckel’s diverticulum is even rarer. Herein, we present the diagnosis and management of a 50-year old patient with Meckel’s diverticulum enterolith and discuss this rare condition based on the literature. PMID:26504424

  19. Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany.

    PubMed

    Göbbel, Luminita; Schultka, Rüdiger; Klunker, Rudyard; Stock, Karsten; Wand, Dorothee; Olsson, Lennart; Gerlach, Antje; Tönnies, Holger

    2005-09-01

    The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724-1774), his son Philipp Friedrich Theodor Meckel (1755-1803), and his grandson Johann Friedrich Meckel the Younger (1781-1833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH-ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD.

  20. An unusual cause of obstructive jaundice

    PubMed Central

    Abbara, Aula; Al-Hadithy, Huda; Khan, Shahid; Shorvon, Philip

    2009-01-01

    An 80-year-old Caucasian woman presented with a 3-week history of painless jaundice, pruritis, dark urine and weight loss. Blood analysis demonstrated an obstructive jaundice pattern. A CT scan demonstrated a gas-filled duodenal diverticulum arising from the second part of the duodenum. Once food material was cleared from the diverticulum endoscopically, there was clinical and biochemical improvement. This case demonstrates an unusual cause of obstructive jaundice that has seldom been reported in the literature; once impacted food material was removed from the diverticulum, there was radiological improvement of the patient’s condition. PMID:21686538