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Sample records for pulmonary adenomatoid malformation

  1. EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.

    PubMed

    Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

    2014-03-01

    An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases.

  2. [Prune belly syndrome associated with cystic adenomatoid malformation of the lung and pulmonary sequestration].

    PubMed

    Ramírez-Figueroa, J L; Pérez-Fernández, L F; López-Corella, E; Cuevas-Schacht, F J; Smith-Sousa, A

    1993-05-01

    The "prune belly" syndrome classically described in males, has also been described in female patients with a variable incidence. Associations with multiple respiratory tract malformations have been reported which together with urinary tract anomalies and renal failure are often the cause of early mortality. We report the case of a female patient with prune belly in association with cystic adenomatoid malformation of the lung and pulmonary sequestration with a favorable clinical evolution following medical and surgical treatment.

  3. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

    PubMed

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome).

  4. Fetal lung interstitial tumor: the first Japanese case report and a comparison with fetal lung tissue and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3.

    PubMed

    Yoshida, Mariko; Tanaka, Mio; Gomi, Kiyoshi; Iwanaka, Tadashi; Dehner, Louis P; Tanaka, Yukichi

    2013-10-01

    Fetal lung interstitial tumor, a newly recognized lung lesion in infants, was first reported in 2010. Here, we report the first Japanese case of fetal lung interstitial tumor which was originally diagnosed as atypical congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. A 7-day-old girl was referred to our hospital with respiratory distress and a left lung mass and she subsequently underwent left lower lobectomy. The specimen showed a 5 cm solid mass with a fibrous capsule. Histological examination revealed immature airspaces and interstitium, containing bronchioles and cartilage. The epithelial and interstitial cells contained abundant glycogen granules. Immunohistochemistry showed nuclear/cytoplasmic expression of β-catenin in the epithelial and interstitial cells. β-catenin gene mutations and trisomy 8 were not detected, so a neoplastic origin could not be confirmed. The histological findings were partly consistent with normal fetal lung at the canalicular stage, pulmonary interstitial glycogenosis, and congenital cystic adenomatoid malformation/congenital pulmonary airway malformation type 3. In this report, we compare the above conditions and discuss the pathogenesis of fetal lung interstitial tumor. © 2013 The Authors. Pathology International © 2013 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

  5. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    PubMed

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  6. Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

    PubMed

    Collins, Anne M; Ridgway, Paul F; Killeen, Ronan P; Dodd, Jonathan D; Tolan, Michael

    2009-09-01

    Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

  7. Video-assisted thoracoscopic lobectomy for congenital cystic adenomatoid malformations.

    PubMed

    Selimović, Amina; Hasanbegović, Edo; Mujičić, Ermina; Milišić, Selma; Haxhija, Emir; Karavdić, Kenan; Pilav, Alen

    2017-02-01

    Aim The aim was to show rare cases of congenital cystic adenomatoid malformation (CCAM) and the manner of its surgical treatment with video-assisted thoracoscopic surgery (VATS). Methods Two male and one female child, 7, 4 and 3 years of age were treated for symptoms of cough and high temperature in district hospitals. In all three children laboratory blood tests and chest radiography were done. Auscultatory findings showed the presence of pneumonia. Children were treated with appropriate doses of antibiotics. After the rehabilitation of inflammation, they were sent to the University Clinical Center Sarajevo, where video-assisted thoracoscopic lobectomy (VATS) was indicated after computerized tomography (CT). Results Chest CT scan pointed to the CCAM and pulmonary sequestration (PS) changes to the lungs. This has required surgery lobectomy of an affected part of the lungs. In two children with PS, the aberrant systemic artery came from the most proximal part of aorta abdominals, the third patient did not have an anomalous artery. Conclusion VATS lobectomy is an alternative to the traditional thoracotomy for the treatment of CCAM and PS, however, it should be investigated in the future for its safety and effectiveness.

  8. Cystic adenomatoid malformation in children: CT histopathological correlation.

    PubMed

    Lanza, C; Bolli, V; Galeazzi, V; Fabrizzi, B; Fabrizzi, G

    2007-06-01

    This study was performed to assess the accuracy of computed tomography (CT) in classifying the various types of cystic adenomatoid malformation (CAM) of the lung, as described by Stocker et al., taking histopathology as the gold standard. We retrospectively reviewed six cases of histologically proven CAM. Chest radiography, chest CT and histopathology results were available for all patients. The CT images were reviewed blinded to the histological findings, and attention was paid to the number and size of cysts so as to classify the lesions into the three groups described by Stocker et al. The classification of lesions based on the CT images was then correlated to the histopathological findings. Areas with small-sized cysts (<2 cm) were detected by CT in two patients (33.3%), areas with large cysts (>2 cm) were seen in three cases (50%) whereas in the remaining case, the diagnosis was mixed type I and type II CAM. In one patient with type I CAM, an area of low-density consolidation around the cysts was interpreted as CAM in a context of pulmonary sequestration. The CT classification based on Stocker et al.'s categories was in agreement with the histopathological findings in four cases, whereas in the remaining two cases, the lesions were classed as type I or II on CT and as mixed (type I and II) lesions at histopathology. In one case, the CT classification was correct, but the histopathology revealed the coexistence of pulmonary sequestration. In our study, there was concordance between CT and histopathology in 66.7% of cases, whereas in 33.3% histopathology revealed areas with mixed grade lesions. CT proved to be accurate in identifying and characterising CAM and provided important information on lesion site and extension.

  9. Fetal MRI as Complementary Study of Congenital Cystic Adenomatoid Malformation During Pregnancy: A Single Case Report

    PubMed Central

    Miranda-Paanakker, Alberto; Gomez-Leal, Paloma; Navarro-Sanchez, Patricia; Bueno-Crespo, Andres; Martinez-Cendan, Juan Pedro; Remezal-Solano, Manuel

    2016-01-01

    Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging. PMID:27186452

  10. Late presentation of congenital cystic adenomatoid malformation of the lung

    SciTech Connect

    Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

    1984-06-01

    Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

  11. [Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

    PubMed

    Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

    2011-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

  12. Successfully treated congenital cystic adenomatoid malformation by open fetal surgery

    PubMed Central

    Fan, Dazhi; Wu, Shuzhen; Wang, Rui; Huang, Yi; Fu, Yao; Ai, Wen; Zeng, Meng; Guo, Xiaoling; Liu, Zhengping

    2017-01-01

    Abstract Background: Congenital cystic adenomatoid malformation (CCAM) is a rare hamartomatous cystic lesion. Open fetal surgery currently provides a potential therapeutic option for management of a fetus with CCAM diagnosis. Case Summary: A 22-year-old G2P0 woman presented at   weeks’ gestation for evaluation of a fetus with a left lung lesion and diagnosed as CCAM at   weeks’ gestation. Open fetal surgery was performed to resection the lesion at   weeks’ gestation under deep maternal general anesthesia. The mother presented at   weeks after open fetal surgery with preterm premature rupture of membranes (PPROM) and underwent cesarean delivery at   weeks’ gestation. A vigorous woman infant of 1955 g, with good Apgar score, was delivered. At 1 month, 4 years, and present, 5 years after birth, she has continued to do well without any obvious deficit and both respiration and circulation were well maintained. Conclusion: We present one case of CCAM which was cured by open fetal surgery and continued to do well at follow-up of 5 years. The success of treatment provided preliminary experience for further carrying out such interventions in China. PMID:28079822

  13. [Congenital cystic adenomatoid malformation of the lung. A report of 12 cases].

    PubMed

    Blanco-Rodríguez, G; Belío-Castillo, C; Ramón-García, G

    1992-08-01

    The congenital cystic adenomatoid malformation of the lung is uncommon. In the Hospital Infantil de México Federico Gómez, 12 cases have been seen over a period of 31 years, which points out how rare this malformation is. There was a male predominance, and 75% of the patients had symptoms by 8 months of age. The main complaints were progressive respiratory failure in the newborn period and recurrent lung infection in older children. Treatment was surgical in all cases. There was only one fatality due to cardiac failure.

  14. In-flight spontaneous pneumothorax: congenital cystic adenomatoid malformation of the lung.

    PubMed

    Madan, Karan; Vishwanath, Gella; Singh, Navneet

    2012-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare congenital abnormality. Symptomatic presentation in adult life is extremely uncommon. The usual radiological appearance of CCAM is a cystic space-occupying lesion. Patients with underlying cystic lung disease can develop in-flight complications because of pressure-volume changes during ascent. We report the first ever case in which spontaneous pneumothorax during flight was the presenting manifestation of CCAM of the lung in a previously healthy and asymptomatic young adult. We also discuss the physiological changes during air travel which contribute to the pathogenesis of respiratory complications during air travel. Copyright © 2012 S. Karger AG, Basel.

  15. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    PubMed

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  16. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  17. Large fetal congenital cystic adenomatoid malformations: growth trends and patient survival.

    PubMed

    Kunisaki, Shaun M; Barnewolt, Carol E; Estroff, Judy A; Ward, Valerie L; Nemes, Luanne P; Fauza, Dario O; Jennings, Russell W

    2007-02-01

    The prognosis for fetuses with large congenital cystic adenomatoid malformations (CCAMs) remains uncertain. This study examined the natural history of large fetal CCAMs managed expectantly at a major referral center. A 5-year retrospective review was conducted on fetuses diagnosed with a thoracic lesion (n = 59). Large CCAMs were identified on prenatal imaging and followed longitudinally. Perinatal outcomes were assessed. Twelve (20.3%) fetuses had large CCAMs in the absence of other congenital anomalies. Peak CCAM size occurred at 25.3 +/- 3.6 weeks' gestation. Serial magnetic resonance volumetry demonstrated a trend toward decreasing CCAM mass volume relative to thoracic cavity volume over time. Overall, 6 patients, including 3 with signs of early hydrops, showed a marked regression of their lesions relative to estimated fetal weight. Five fetuses required an emergent intervention postnatally, including extracorporeal membrane oxygenation support (n = 1), cyst aspiration (n = 1), and lung resection (n = 5). Overall survival was 75%, with severe hydrops before 30 weeks seen in all 3 deaths. Large fetal CCAMs tend to peak in size at 25 weeks' gestation and are characterized by in utero diminution relative to overall fetal growth. The prognosis for most fetuses with large CCAMs remains quite favorable under careful perinatal management.

  18. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  19. Congenital pulmonary airway malformation: a case report and review of the literature.

    PubMed

    McDonough, Ryan J; Niven, Alexander S; Havenstrite, Keith A

    2012-02-01

    Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision.

  20. Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.

    PubMed

    Sa, Young Jo; Kim, Young Du; Moon, Seok-Whan; Kim, Chi-Kyung; Ki, Chang Seok

    2013-12-01

    An 8-year-old male presented with a cystic lung lesion in the left lower lobe, which was initially detected during surgery for a spontaneous rupture of the sigmoid colon at the age of 6 years. Tissue fragility and a tendency to bleed easily were noted during the surgery, which strongly suggested vascular Ehlers-Danlos syndrome. Although there was no abnormality in the hemostasis screening test, or any suspicious hereditary problem in his pedigree, genetic gene testing for vascular Ehlers-Danlos syndrome was recommended, and showed a de novo mutation in the COL3A1 gene. This report presents the case of patient with occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of lung, in addition to a duplicated infrarenal vena cava.

  1. In utero resolution of microcystic congenital cystic adenomatoid malformation after prenatal betamethasone therapy: A report of three cases and a literature review.

    PubMed

    Yamashita, Akiko; Hidaka, Nobuhiro; Yamamoto, Ryo; Nakayama, Soichiro; Sasahara, Jun; Ishii, Keisuke; Mitsuda, Nobuaki

    2015-09-01

    Fetal congenital cystic adenomatoid malformation (CCAM) can progress to nonimmune hydrops, and the mortality rate of CCAM with hydrops is reported to be nearly 100%. We describe three microcystic CCAM cases in which the fetal condition improved after maternal betamethasone therapy. The median gestational age at steroid administration was 23 5/7 weeks' gestation. The CCAM decreased in size in all cases. Our series showed a 100% hydrops resolution rate (2/2) and a 100% survival rate (3/3). Our experience suggests the efficacy of betamethasone treatment on fetuses with microcystic CCAM who have fluid collection or are at risk of developing hydrops. © 2014 Wiley Periodicals, Inc.

  2. Cytogenetic and p53 profiles in congenital cystic adenomatoid malformation: insights into its relationship with pleuropulmonary blastoma.

    PubMed

    Vargas, Sara O; Korpershoek, Esther; Kozakewich, Harry P W; de Krijger, Ronald R; Fletcher, Jonathan A; Perez-Atayde, Antonio R

    2006-01-01

    Congenital cystic adenomatoid malformation (CCAM), a developmental anomaly of lung, shares many features with the pediatric tumor pleuropulmonary blastoma (PPB). Both may show benign epithelium-lined cysts and mesenchymal proliferation, often with skeletal muscle differentiation. Before its recognition as a distinct entity, PPB was described in several reports as "rhabdomyosarcoma arising in CCAM." Abnormal karyotypes in PPB often show excess material from chromosome 8. It has also been suggested that PPB may harbor p53 mutations. We examined the karyotype and searched for p53 mutations (via immunostaining and single-strand conformation polymorphism analysis) in 11 CCAM and in 2 PPB. Karyotypes were normal in all CCAM and showed clonal abnormalities in both PPB. There was marked and diffuse immunopositivity for nuclear p53 in the epithelial cells of CCAM and PPB. Strong staining was also observed in approximately 50% of the stromal cells in all PPB, but was seen in the stroma of only 2 of 10 CCAM, where it was faint and focal. TP53 mutations were not identified in CCAM or PPB. We conclude that CCAM does not contain the clonal chromosomal aberrations reported in PPB and shows less stromal p53 immunostaining than PPB. Since p53 mutations were not identified in either entity, the observed p53 immunoreactivity may be caused by another mechanism; its role in PPB and CCAM pathogenesis remains to be determined. Overall, these findings provide evidence that CCAM is nonneoplastic. Although some may view CCAM as a PPB precursor, it remains biologically distinct in terms of karyotype and p53 status.

  3. Pulmonary arteriovenous malformation treated by lobectomy.

    PubMed

    Georghiou, Georgios P; Berman, Marius; Vidne, Bernardo A; Saute, Milton

    2003-08-01

    Pulmonary arteriovenous malformation (PAVM) may occur primarily or in association with hereditary hemorrhagic telangiectasia. We present a case of PAVM in the central lower lobe of the left lung of a 75-year-old woman, which was successfully treated by lobectomy. Contrast echocardiography is an excellent tool for evaluation of this uncommon lesion. Advances in interventional radiology have led to the introduction of obliterative techniques for the treatment of PAVM. However, in the presence of a large solitary malformation centrally located, as in our case, and in high-risk patients, surgery is still a safe and effective first option.

  4. Fetal case of congenital cystic adenomatoid malformation of the lung: fetal therapy and a review of the published reports in Japan.

    PubMed

    Asabe, Koushi; Oka, Yoichiro; Shirakusa, Takayuki

    2005-09-01

    We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection of the right lung, postpneumonectomy syndrome appeared and, as a result, the infant died 13 months after delivery due to respiratory failure. Only 19 cases demonstrating CCAML associated with NIHF have been reported previously in Japan. Four cases showed a spontaneous resolution of NIHF, while 5 cases with type I CCAML, which all underwent fetal intervention, demonstrated an excellent outcome.

  5. [Cystic pulmonary malformations: clinical and radiological polymorphism. A report on 30 cases].

    PubMed

    Khemiri, M; Khaldi, F; Hamzaoui, A; Chaouachi, B; Hamzaoui, M; Becher, S Ben; Bellagha, I; Barsaoui, S

    2009-12-01

    This report describes different clinical pictures of cystic pulmonary malformation (CPM) and problems in diagnosis. Cases of CPM between 01 January 1994 and 31 December 2004 diagnosed in our institution were reviewed. Thirty-three cases of CPM were diagnosed in 30 children. They consisted of 17 boys and 13 girls ranging from 20 days to 16 years of age at the time of the diagnosis. The CPM included: 17 cases of congenital lobar emphysema (CLE), seven bronchogenic cysts (BC), five cystic adenomatoid malformations (CAM) and four pulmonary sequestrations (PS). Three patients presented two associated lung malformations. The mean ages at the time of diagnosis varied from 2 to 88 months. The symptoms consisted of respiratory distress (n=14, 46.6%); recurrent attacks of respiratory embarrassment (n=6, 20%); pulmonary infection (n=8, 26.6%) associated with haemoptysis in two cases; haemothorax (n=1) and a chance discovery (n=1). Radiological investigations led to the diagnosis in all cases of CLE and CAM although it contributed less to the diagnosis of BC and PS. Twenty-nine patients required chirurgical treatment involving lobectomy (n=22), pneumonectomy (n=2) and cystectomy (n=8). The histopathological examinations confirmed the diagnosis in all cases and rectified the preoperative diagnosis in four cases. Except for one patient with CLE, who died a few days after a lobectomy due to acute nosocomial pneumonia, the postoperative period was uneventful in 26 children with a mean of follow-up of 24 months (4 months to 7 years). Three patients developed transient and episodic attacks of dyspnoea. CPM may be responsible for many clinical and radiological pictures that present difficulties in their diagnosis. Polymorphism is related to the type of malformation, its topography and the evolutive complications.

  6. Slide tracheoplasty outcomes in children with congenital pulmonary malformations.

    PubMed

    DeMarcantonio, Michael A; Hart, Catherine K; Yang, Christina J; Tabangin, Meredith; Rutter, Michael J; Bryant, Roosevelt; Manning, Peter B; de Alarcón, Alessandro

    2017-06-01

    Evaluate and compare surgical outcomes of slide tracheoplasty for the treatment of congenital tracheal stenosis in children with and without pulmonary malformations. Retrospective chart review at a tertiary care pediatric medical center. We identified patients with tracheal stenosis who underwent slide tracheoplasty from 2001 to 2014, and a subset of these patients who were diagnosed with congenital pulmonary malformations. Hospital course and preoperative and postoperative complications were recorded. One hundred thirty patients (18 with pulmonary malformations, 112 with normal pulmonary anatomy) were included. Pulmonary malformations included unilateral pulmonary agenesis (61%) and hypoplasia (39%). Children with pulmonary malformations had a greater median age compared to their normal lung anatomy counterparts. Preoperatively, patients with pulmonary malformations more frequently required preoperative mechanical ventilation (55.6% vs. 21.3%, P = .007), extracorporeal membrane oxygenation (ECMO) (11% vs. 0.9%, P = .05), and tracheostomy (22.2% vs. 3.6%, P = .01). Postoperatively, patients with pulmonary malformations more frequently required mechanical ventilation >48 hours (78% vs. 37%, P =.005) and ECMO use (11% vs. 0.9%, P = .05). Pulmonary malformation patients and children with normal anatomy did not differ in terms of postoperative tracheostomy (16.7% vs. 4.4%, P > .05), dehiscence (6% vs. 0%, P > .05%), restenosis (11% vs. 6%, P > .05) or postoperative figure 8 deformity (6% vs. 3%, P > .05). Mortality, however, was significantly increased (22.2% vs. 3.6%, P = .01) in children with pulmonary malformations. Although slide tracheoplasty can be successfully performed in patients with abnormal pulmonary anatomy, surgeons and families should anticipate a more difficult postoperative course, with possible associated prolonged mechanical ventilation, ECMO use, and higher mortality than in children with tracheal stenosis alone. 4. Laryngoscope, 127:1283-1287, 2017

  7. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

    Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

    2002-01-01

    Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem. PMID:22368610

  8. Carotid ultrasound for pulmonary arteriovenous malformation screening

    PubMed Central

    Schneider, Günther; Maßmann, Alexander; Gräber, Stefan; Geisthoff, Urban W.

    2015-01-01

    Objective In patients with hereditary hemorrhagic telangiectasia (HHT), pulmonary arteriovenous malformations (PAVMs) can cause serious neurological complications. Our aim was to evaluate the potential of contrast-enhanced Doppler ultrasound (CE-US) of the common carotid artery as a screening test for detection of PAVMs. Methods A total of 124 consecutive patients with HHT or a positive family history underwent screening for PAVMs with CE-US and thoracic contrast-enhanced magnetic resonance angiography (CE-MRA). CE-US was performed after receiving (D)-galactose microparticulate, and CE-MRA with gadobenate dimeglumine. Twenty-five patients with confirmed PAVMs were referred to conventional pulmonary catheter angiography (PA). Findings on CE-US and CE-MRA were evaluated using contingency tables and McNemar’s test. Results Using CE-MRA as the reference test, CE-US had a sensitivity of 100%, a specificity of 87%, and a negative predictive value of 100%. In 25 patients who underwent PA, PAVMs that had been diagnosed on CE-US and CE-MRA were confirmed. Of the PAVMs detected by CE-MRA, 24% were not identified on PA. Conclusion CE-US is a simple, minimally invasive screening method that can easily be performed in different settings. CE-US can predict PAVMs with high probability of success. CE-US may be a simple alternative to transthoracic echocardiography in the assessment of PAVMs in certain HHT-patients. PMID:28352707

  9. Regression of pulmonary artery hypertension due to development of a pulmonary arteriovenous malformation.

    PubMed

    Hasan, Ashfaq; Sastry, B K S; Aleem, M A; Reddy, Gokul; Mahmood, Syed

    2014-01-01

    Idiopathic Pulmonary Hypertension (IPAH) is characterized by elevated pulmonary arterial pressure in the absence of an identifiable underlying cause. The condition is usually relentlessly progressive with a short survival in the absence of treatment.(1) We describe a patient of IPAH in whom the pulmonary artery pressures significantly abated with complete disappearance of symptoms, following spontaneous development of a pulmonary arterio-venous malformation (PAVM). Copyright © 2014 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  10. Type IV spinal arteriovenous malformation in association with familial pulmonary vascular malformations: case report.

    PubMed

    Rosenow, J; Rawanduzy, A; Weitzner, I; Couldwell, W T

    2000-05-01

    Type IVc arteriovenous malformations (AVMs) of the spinal cord consist of multiple high-flow feeding vessels, and they often present a challenging management situation. Their location is intradural and extramedullary, and they are rare malformations that are difficult to treat owing to the risk of thrombosis of the anterior spinal artery. The authors report a case of Type IVc spinal AVM in a patient with a family history of three siblings with pulmonary AVMs. Spinal AVMs have been reported to be associated with inherited syndromes such as familial cutaneous hemangiomas and Kartagener's syndrome, but an association with pulmonary AVMs has not previously been described. A 27-year-old man presented with sudden onset of occipital headache with cervical radiation while weightlifting. Results of computed tomography of the brain were normal, but lumbar puncture revealed a subarachnoid hemorrhage. The patient had a 1-year history of a neurogenic bladder and exhibited marked left calf muscle wasting. The patient underwent spinal magnetic resonance imaging, which revealed the AVM in the conus region. Selective spinal angiography was performed for diagnostic purposes. A laminectomy was performed, and the vessels feeding the AVM were clipped, as was the fistula. The patient remained neurologically stable, and angiography confirmed obliteration of the AVM. This is the first case report of a patient with a spinal AVM who had multiple siblings with pulmonary malformations or AVMs.

  11. Pulmonary Arteriovenous Malformation Causing Systemic Hypoxemia in Early Infancy

    PubMed Central

    Khan, D. M.; Rhodes, J. F.

    2017-01-01

    Pulmonary arteriovenous malformation (AVM) is not routinely appreciated during the standard echocardiogram to assess for structural abnormalities or pulmonary hypertension. The distal pulmonary AVM is suspected only if an injection of agitated saline is performed and late entry of particles is appreciated in the left heart structures. A large or complex pulmonary AVM can result in significant right-to-left shunting and consequential systemic hypoxemia in the presence or absence of pulmonary hypertension. For direct visualization of the pulmonary AVM, computerized tomography (CT) scan is the procedure of choice. Here, we present two young infants with systemic hypoxemia who underwent standard medical management including mechanical ventilation and one patient was placed on extracorporeal membrane oxygenation (ECMO) before the diagnosis of pulmonary AVM was established. Subsequently, both patients have done well into mid-term follow-up after being treated successfully using transcatheter occlusion techniques in the cardiac catheterization laboratory during early infancy. We aim to emphasize the importance of a high index of suspicion for pulmonary AVM in infants with refractory systemic hypoxemia of unclear etiology. PMID:28373920

  12. ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.

    PubMed

    Hanley, Michael; Ahmed, Osmanuddin; Chandra, Ankur; Gage, Kenneth L; Gerhard-Herman, Marie D; Ginsburg, Michael; Gornik, Heather L; Johnson, Pamela T; Oliva, Isabel B; Ptak, Thomas; Steigner, Michael L; Strax, Richard; Rybicki, Frank J; Dill, Karin E

    2016-07-01

    Pulmonary arteriovenous malformations are often included in the differential diagnosis of common clinical presentations, including hypoxemia, hemoptysis, brain abscesses, and paradoxical stroke, as well as affecting 30% to 50% of patients with hereditary hemorrhagic telangiectasia (HHT). Various imaging studies are used in the diagnostic and screening settings, which have been reviewed by the ACR Appropriateness Criteria Vascular Imaging Panel. Pulmonary arteriovenous malformation screening in patients with HHT is commonly performed with transthoracic echocardiographic bubble study, followed by CT for positive cases. Although transthoracic echocardiographic bubble studies and radionuclide perfusion detect right-to-left shunts, they do not provide all of the information needed for treatment planning and may remain positive after embolization. Pulmonary angiography is appropriate for preintervention planning but not as an initial test. MR angiography has a potential role in younger patients with HHT who may require lifelong surveillance, despite lower spatial resolution compared with CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.

  13. Unusual Systemic Artery to Pulmonary Artery Malformation Without Evidence of Systemic Disease, Trauma or Surgery

    SciTech Connect

    Geyik, Serdar; Yavuz, Kivilcim; Keller, Frederick S.

    2006-10-15

    Connections between the systemic and pulmonary arterial systems are rare conditions that can be due to either congenital or acquired diseases such as anomalous systemic arterial supply to normal lung, pulmonary sequestration, and systemic supply to pulmonary arteriovenous malformations. Herein, a unique case of systemic artery to pulmonary arterial malformation and its endovascular treatment in a patient with no history of the usual etiologies is reported.

  14. Type II congenital pulmonary airway malformation in an esophageal lung

    PubMed Central

    Martínez-Martínez, Blanca Estela; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung. PMID:23762890

  15. Type II congenital cystic pulmonary malformation in an esophageal lung.

    PubMed

    Martínez-Martínez, Blanca E; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  16. Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke.

    PubMed

    Bertram, Kelly L; Madan, Anoop; Frayne, Judith

    2016-07-01

    Young onset stroke is uncommon, and may be due to conditions other than traditional vascular risk factors. A 42-year-old woman with an ischaemic stroke was found to have left atrial bubble study positivity on transthoracic echocardiogram (TTE) suggestive of patent foramen ovale, however she also had low peripheral oxygen saturation. Investigation revealed an isolated pulmonary arteriovenous malformation (PAVM), visible on admission chest radiograph. This can cause embolic stroke and is an alternate cause of the TTE findings. The PAVM was able to be closed via endovascular intervention, removing the shunt and therefore removing her risk of recurrent stroke events. This is a rare cause of embolic stroke in young people which can be easily missed on investigation yet is amenable to treatment.

  17. Congenital pulmonary airway malformation with atrial septal defect and pulmonary hypertension for lobectomy-anesthetic considerations.

    PubMed

    Chiluveru, Swapna A; Dave, Nandini M; Dias, Raylene J; Garasia, Madhu B

    2016-01-01

    The association of congenital pulmonary airway malformation (CPAM) with congenital heart disease is rare. We present the case of a 6-month-old child with atrial septal defect and pulmonary hypertension (PH) who presented with severe respiratory distress and hypoxia. The patient underwent right lobectomy for CPAM. With timely management, real-time monitoring, one lung ventilation, and adequate analgesia, we were able to extubate the child in the immediate postoperative period. We conclude that with meticulous planning and multidisciplinary team approach, such complex cases can be managed successfully.

  18. Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation.

    PubMed

    Themistocleous, Marios; Giakoumettis, Dimitrios; Mitsios, Andreas; Anagnostopoulos, Christos; Kalyvas, Aristoteles; Koutsarnakis, Christos

    2016-01-01

    Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present report we describe a case of cerebral abscess due to silent pulmonary arteriovenous malformation (AVM) in a young patient previously undiagnosed for hereditary hemorrhagic telangiectasia syndrome (HHT).

  19. Aspergilloma in a patient with an occult congenital pulmonary airway malformation.

    PubMed

    Yonker, Lael M; Mark, Eugene J; Canapari, Craig A

    2012-03-01

    We describe the case of a 14-year-old male who presented with a right upper lobe aspergilloma forming in a previously occult congenital pulmonary airway malformation. This is the first case describing an aspergilloma forming within a CPAM.

  20. A rare case of pulmonary arterio-venous malformation with recurrent anemia: Hereditary hemorrhagic telangiectasia

    PubMed Central

    Nataraju, Kamalesh Tagadur; Mukherjee, Tirthankar; Doddaiah, Ramachandra Prabhu Hosahalli; Nanjappa, Nagesh Gabbadi; Narasegowda, Lakshmikanth

    2015-01-01

    Arteriovenous malformation (AVM) is a rare vascular anomaly of the lung, which manifests predominantly as dyspnea (due to right to left shunting) and paradoxical embolism. Hereditary Hemorrhagic Telangiectasia (HHT) being a rare genetic disorder is one of the most common causes of pulmonary arteriovenous malformation (PAVM). Here we report an interesting case of recurrent anemia in an elderly female, who was subsequently found to have multiple cutaneous and mucosal telangiectasias and a large pulmonary AVM. PMID:26180392

  1. Diagnosis, management, and pathophysiology of post-Fontan hypoxaemia secondary to Glenn shunt related pulmonary arteriovenous malformation

    PubMed Central

    Premsekar, R; Monro, J; Salmon, A

    1999-01-01

    An 8 year old child with tricuspid atresia had developed right sided pulmonary arteriovenous malformations following a previous classic Glenn procedure. These became clinically manifest immediately after Fontan conversion because of severe systemic desaturation. The pathophysiology and postoperative medical management of this case is described and related to current understanding of the aetiology of acquired pulmonary arteriovenous malformations following cavopulmonary shunt.


Keywords: classic Glenn shunt; bidirectional cavopulmonary anastomosis; pulmonary arteriovenous malformations; Fontan circulation PMID:10490576

  2. Long-Term Follow-up After Embolization of Pulmonary Arteriovenous Malformations with Detachable Silicone Balloons

    SciTech Connect

    Andersen, Poul Erik Kjeldsen, Anette D.

    2008-05-15

    Long-term follow-up results after embolization of 13 pulmonary arteriovenous malformations in 10 patients by use of 14 detachable silicone balloons are given. Patients were followed for a mean of 99 months (range, 63-123 months) with chest x-rays and for a mean of 62 months (range, 3-101 months) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not available anymore, but use of these balloons for embolization of pulmonary arteriovenous malformations has been shown to be a safe and precise method, with immediate occlusion of the feeding artery and with long-lasting occlusion, even though many balloons deflate with time, leaving a fibrotic scar replacing the pulmonary arteriovenous malformation. No case of recanalization has been discovered, and these results seem to justify a reduced number of controls of these balloon-embolized malformations.

  3. Long-term follow-up after embolization of pulmonary arteriovenous malformations with detachable silicone balloons.

    PubMed

    Andersen, Poul Erik; Kjeldsen, Anette D

    2008-01-01

    Long-term follow-up results after embolization of 13 pulmonary arteriovenous malformations in 10 patients by use of 14 detachable silicone balloons are given. Patients were followed for a mean of 99 months (range, 63-123 months) with chest x-rays and for a mean of 62 months (range, 3-101 months) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not available anymore, but use of these balloons for embolization of pulmonary arteriovenous malformations has been shown to be a safe and precise method, with immediate occlusion of the feeding artery and with long-lasting occlusion, even though many balloons deflate with time, leaving a fibrotic scar replacing the pulmonary arteriovenous malformation. No case of recanalization has been discovered, and these results seem to justify a reduced number of controls of these balloon-embolized malformations.

  4. Use of the TriSpan Coil to Facilitate the Transcatheter Occlusion of Pulmonary Arteriovenous Malformation

    SciTech Connect

    Cil, Barbaros E. E-mail: barbaros@hacettepe.edu.tr; Erdogan, Cueneyt; Akmangit, Ilkay; Cekirge, Saruhan; Balkanci, Ferhun

    2004-11-15

    Pulmonary arteriovenous malformation (PAVM) is a rare vascular malformation of the lung which may occur as an isolated entity or in association with hereditary hemorrhagic telangiectasia (HHT). Because of considerable risk of serious complications such as cerebral embolism, brain abscess and pulmonary hemorrhage, definitive treatment should be considered in most patients. Embolization with coils or detachable balloons is currently the preferred treatment. Paradoxical embolization of coils and balloons may happen, especially in patients with PAVMs with large feeding arteries. In this report we present our initial experience with the use of the TriSpan coil to lower the risk of coil migration during the transcatheter occlusion of PAVMs.

  5. Endovascular occlusion of pulmonary arteriovenous malformations with the ArtVentive Endoluminal Occlusion System™

    PubMed Central

    Corvino, Fabio; Silvestre, Mattia; Cervo, Amedeo; Giurazza, Francesco; Corvino, Antonio; Maglione, Franco

    2016-01-01

    Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies of the lung and carry the risk of cerebral thromboembolism, brain abscess, or pulmonary hemorrhage. We describe a 64-year-old male with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who presented with a five-year history of progressive effort dyspnea and a PAVM in the right upper lobe successfully treated by transcatheter embolization of feeding arteries using a new occlusion device, the ArtVentive Endoluminal Occlusion System™. PMID:27559714

  6. Transcatheter Closure of Bilateral Multiple Huge Pulmonary Arteriovenous Malformations with Homemade Double-Umbrella Occluders

    SciTech Connect

    Zhong Hongshan Xu Ke; Shao Haibo

    2008-07-15

    A 28-year-old man underwent successful transcatheter occlusion of three huge pulmonary arteriovenous malformations (PAVMs) using homemade double-umbrella occluders and stainless steel coils. Thoracic CT with three-dimensional reconstruction and pulmonary angiography were used for treatment planning and follow-up. The diameters of the feeding vessels were 11 mm, 13 mm, and 14 mm, respectively. This report demonstrates the novel design and utility of the double-umbrella occluder, an alternative tool for treatment of large PAVMs.

  7. Cystic Adenomatoid Odontogenic Tumor

    PubMed Central

    Grover, Sonal; Rahim, Ahmed Mujib Bangalore; Parakkat, Nithin Kavassery; Kapoor, Shekhar; Mittal, Kumud; Sharma, Bhushan; Shivappa, Anil Bangalore

    2015-01-01

    Adenomatoid Odontogenic Tumor (AOT) is a well-established benign epithelial lesion of odontogenic origin. Rightfully called “the master of disguise,” this lesion has been known for its varied clinical and histoarchitectural patterns. Not only does AOT predominantly present radiologically as a unilocular cystic lesion enclosing the unerupted tooth (which is commonly mistaken as a dentigerous cyst) but the lesion also presents rarely with a cystic component histopathologically. We present one such unusual case of cystic AOT associated with an impacted canine, mimicking a dentigerous cyst. The present case aims to highlight the difference between cystic AOT and dentigerous cyst radiographically. The exact histogenesis of AOT and its variants still remains obscure. An attempt has been made to hypothesize the new school of thought regarding the origin of AOT. PMID:26579317

  8. Vein of Galen malformation presenting as persistent pulmonary hypertension of newborn (PPHN)

    PubMed Central

    Tiwary, Sangeeta; Geethanath, Ruppa Mohanram; Abu-Harb, Majd

    2013-01-01

    Arteriovenous malformation is a recognised cause of persistent pulmonary hypertension in a newborn (PPHN). Vein of Galen malformation (VOGM) is a rare vascular malformation which can be life-threatening if not diagnosed and treated early. We describe a case of a term baby who presented at day 4 of life with PPHN secondary to VOGM. The neonate underwent two transarterial interventional embolisation procedures on day 9 and then another one due to developing ventricular dilation on day 44. He remains stable since and was doing well at clinical review at 10 weeks and 4 months of age. VOGM usually presents in the neonatal period with high-output cardiac failure. In a baby who presents atypically with pulmonary hypertension, a cranial ultrasound scan should be considered to look for extracardiac shunting in the brain, especially, VOGM. PMID:24072831

  9. Pulmonary Arteriovenous Malformations and Cerebral Abscess Recurrence in a Child With Hereditary Hemorrhagic Telangiectasia.

    PubMed

    Giordano, Paola; Sangerardi, Maria; Suppressa, Patrizia; Lastella, Patrizia; Attolini, Ettore; Valente, Federica; Fiorella, Maria L; Lenato, Gennaro M; Sabbà, Carlo

    2015-04-01

    A 17-year-old boy was referred to our center with a history of brain abscess (BA) recurring after 9 years. The patient reported 2 previous treatments for pulmonary arteriovenous malformations, sporadic nosebleeds, and familial history for epistaxis. Clinical investigations revealed arteriovenous malformations in lung, brain, and liver, as well as mucocutaneous telangiectases. A definite diagnosis of hereditary hemorrhagic telangiectasia was made based on clinical criteria and confirmed by genetic analysis. This is the first report of BA recurrence at the end of pediatric age. The present case and the literature review of all cases of BA thus far reported highlight the need to raise the suspicion of a pulmonary arteriovenous malformations, both isolated and in the context of a possible hereditary hemorrhagic telangiectasia, for any case of BA of unexplained etiology, in children as well as in adults.

  10. Impact of Pulmonary Arteriovenous Malformations on Respiratory–Related Quality of Life in Patients with Hereditary Haemorrhagic Telangiectasia

    PubMed Central

    Blivet, Sandra; Cobarzan, Daniel; Beauchet, Alain; El Hajjam, Mostafa; Lacombe, Pascal; Chinet, Thierry

    2014-01-01

    Fifteen to fifty percent of patients with hereditary haemorrhagic telangiectasia have pulmonary arteriovenous malformations. The objective of this study was to measure the effect of the presence of pulmonary arteriovenous malformations and of their embolisation on respiratory-related quality of life (QoL). We prospectively recruited patients with a diagnosis of hereditary haemorrhagic telangiectasia based on the Curaçao criteria and/or the identification of a pathogenic mutation. Respiratory-related quality of life was measured using the Saint George’s Respiratory Questionnaire (SGRQ). Patients who underwent embolisation of pulmonary arteriovenous malformations completed the questionnaire before and 6–12 mo after the procedure. The 56 participants were divided into three groups: no pulmonary arteriovenous malformation (group A, n = 10), small pulmonary arteriovenous malformations not accessible to embolotherapy (group B, n = 19), and large pulmonary arteriovenous malformations accessible to embolotherapy (group C, n = 27). The SGRQ score was significantly higher in group C compared to the other groups, indicating a worse respiratory-specific QoL. There was no significant difference between groups A and B. Among the 17 patients who underwent an embolisation, the SGRQ score decreased significantly after the procedure, to a value similar to that in patients without pulmonary arteriovenous malformation. Our results indicate that the presence of large but not small pulmonary arteriovenous malformations negatively affects the respiratory-related quality of life and that embolisation of pulmonary arteriovenous malformations normalizes the respiratory-related quality of life. PMID:24603803

  11. Coil Embolotherapy of Unilateral Diffuse Pulmonary Arteriovenous Malformations in a Nineteen-Year-Old Woman

    PubMed Central

    Rokni Yazdi, Hadi; Abtahi, Hamidreza; Saberi, Hazhir; Salahi, Mona

    2015-01-01

    Pulmonary arteriovenous malformations (AVMs) are rare vascular malformations of the lung that usually led to a notable risk of serious and life-threatening complications. There is considerable debate about the best management of strategies for the group of patients with diffuse AVMs. Several therapeutic options have been reported for management of this abnormality among which coil embolization is currently the preferred ones. This report describes our experience with the use of coiling method for treatment of multiple AVMs in an adult patient. PMID:26528389

  12. [Clinico-histologic-morphometric correlations in pulmonary arteries among patients with heart malformations ].

    PubMed

    Fischbach, H; Hoffmeister, H M; Hoffmeister, H E; Apitz, J; Schmidt, C

    1982-01-01

    To improve the evaluation of grades of pulmonary vascular lesions in congenital heart malformations, we studied the extent to which there is a measurable relationship between pressure conditions in the pulmonary circulation and the area of the media in small and medium-sized pulmonary arteries, and the possibility of a correlation between the subjective evaluation of grades of hypertensive pulmonary vascular lesions according to Heath and Edwards (1958). Material and methods. The lungs in 68 children (mean age, 22.7 months) with congenital malformations of the heart or great vessels resulting in pulmonary hypertension were examined. The lungs were fixed in a 4% formalin solution passed via the trachea under a constant filling pressure of 150 cm H2O. Peripheral as well as central tissue was removed from all lobes of the lungs; the specimens were stained with Elastica-van Gieson. The extent of hypertensive pulmonary vasculopathy was staged, without knowledge of the pressure conditions, according to the grading system developed by Heath and Edwards. The diameter and the area of all muscular arteries with diameters smaller or larger than 100 micron were measured using a semiautomatic measurement device for quantitative morphometric analysis (MOP/AM 01). Cardiac catheter values were available for all cases. The quotient of systolic pressures in the pulmonary artery and the aorta was taken as the measure of hemodynamic conditions in the pulmonary circulation. The Pearson-Bravais correlation coefficient (r) was computed from the respective area quotient and the corresponding pressure values. In addition, the coefficient of determination (r2) and regression functions were determined. Results. A linear correlation (r = 0.70) exists between the pressure quotient (Psyst. pulm. art./ Psyst. aorta) and the vessel area quotient (media area/total area). The correlation is expressed by the following functions: x = 1.89 y - 0.08 y = 0.26 x + 0.24 Using the Heath and Edwards grading

  13. Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association.

    PubMed

    Millington, Karmaine A; Mani, Haresh

    2013-01-01

    Type 2 congenital pulmonary airway malformation (CPAM) has been reported in association with many other congenital anomalies. To the best of our knowledge, however, an association of type 2 CPAM with congenital nephrotic syndrome has not been heretofore reported. We present the 1st report of such an association in a boy who had a prenatal diagnosis of cystic lung malformation and was found to have congenital nephrotic syndrome (diffuse mesangial sclerosis) at 1 month of age. A prenatal ultrasonogram had also shown oligohydramnios, and additionally the child had cleft lip and palate. There was no family history of childhood renal or pulmonary disease, and genetic testing for genes mutated in congenital nephrotic syndrome was negative.

  14. Pulmonary arteriovascular malformation: a rare cause of unexplained hypoxia and acute dyspnoea in young patients

    PubMed Central

    Iqbal, Nousheen; Rehman, Karim Abdur; Khan, Javaid Ahmed; Haq, Tanveer Ul

    2014-01-01

    Pulmonary arteriovenous malformations (PAVMs) are anomalous vascular connections between arteries and veins in the lung and comprise of two types, simple and complex. PAVMs are associated with congenital conditions such as hereditary haemorrhagic telengiectasia along with acquired causes. We present a case of a 26-year-old man who presented with dyspnoea, palpitations and decreased oxygen saturation as an initial presentation of PAVM, which was treated successively with embolisation. PMID:25527686

  15. Pulmonary arterovenous malformation causing hemothorax in a pregnant woman without Osler-Weber-Rendu syndrome

    PubMed Central

    Di Crescenzo, Vincenzo; Napolitano, Filomena; Vatrella, Alessandro; Zeppa, Pio; Laperuta, Paolo

    2015-01-01

    Pulmonary arteriovenous malformations (PAVMs), although most commonly congenital, are usually detected later in life. Case report: We present a case of a 19-year-old woman with no previous history of AVM or telangiectasia, who presented dyspnea and hypoxia by massive left hemothorax in the 34th week of gestation. After emergent cesarean delivery, a chest computed tomography (CT) with i.v. contrast showed a likely 3 cm area of active contrast in left lower lung. Chest tube placement revealed about 2 liters of blood. The patient was subsequently found to have pulmonary AVM. A successful embolisation of AVM followed by lung atipic resection involving AVM and decortication for lung re-expansion were the treatments provided. Conclusions: Women with known pulmonary AVM should be maximally treated prior to becoming pregnant, and the physician should be alert to complications of pulmonary AVM during pregnancy. PMID:28352753

  16. Metformin as possible therapy of pulmonary arterio venous malformation in HHT patients.

    PubMed

    Lacout, Alexis; Marcy, Pierre Yves; El Hajjam, Mostafa; Lacombe, Pascal

    2015-09-01

    Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomic dominant disorder, which is characterized by the development of multiple arteriovenous malformations. Pulmonary arteriovenous malformations may either rupture or be responsible for a right-to-left shunting leading to paradoxical embolism causing stroke or cerebral abscess. Metformin may harbor a pleiotropic action, (a) decreasing inflammation (via anti COX 2 pathway and other mechanism), (b) decreasing COX 2 and VEGF mediated angiogenesis, (c) increasing negative angiogenic regulation pathway by stimulating SMAD 2/3 expression either directly or via the AMPK pathway and preventing from pulmonary hypertension development and (d) diminushin oxidative stress. An animal model could be experimented to show its effects on PAVM formation. Metformin could also be tested in human individuals, particularly in patients presenting a diffuse HHT type with tiny PAVM. Metformin may be indicated as a prophylactic or curative therapy in HHT patients presenting with initial lung involvement. Metformin may be proposed to prevent from pulmonary arteriovenous malformation development and subsequent related complications.

  17. Prenatal diagnosis of bilateral pulmonary agenesis: a case report.

    PubMed

    Lee, Kyung A; Cho, Jeong Yeon; Lee, Seung Mi; Jun, Jong Kwan; Kang, Jieun; Seo, Jeong-Wook

    2010-01-01

    We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

  18. [Hemoptysis in a child with cervical and pulmonary arteriovenous malformation. Case report].

    PubMed

    Cuestas, Giselle; Demarchi, María Victoria; Martínez Corvalán, María Pía; Razetti, Juan; Boccio, Carlos

    2015-01-01

    Hemoptysis is the expectoration of blood from the subglottic airway. The main causes in children are infections of the lower respiratory tract and aspiration of foreign bodies. Pulmonary arteriovenous malformation is a rare etiology of hemoptysis, which involves abnormal communication between the arterial and venous system. Most vascular malformations are present at birth and enlarge proportionately with the growth of the child. Signs and symptoms include dyspnea, exercise intolerance, cyanosis and hemorrhagic or neurologic complications. We describe the clinical manifestations, diagnostic methods and treatment of a child with this disease. We emphasize the importance of efficient systematic evaluation in every child with hemoptysis to identify the underlying etiology, since immediate treatment is essential because of the potential severity of this condition.

  19. [Brain abscess mediated through a pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia].

    PubMed

    Tsujimoto, Kohei; Moriya, Masayuki; Yaka, Keiko; Kawasaki, Yuko; Nakatani, Rie; Naba, Ichiro; Nakano, Misa; Tatsumi, Chikao; Yasumoto, Taku; Kawahara, Ryuji

    2014-01-01

    The patient is a 66-year-old man with hereditary telangiectasia. He was diagnosed with pulmonary arteriovenous malformation (PAVM), which was revealed by contrast-enhanced chest computed tomography at the age of 65. He developed headache, right homonymous hemianopsia, and right hemiparesis and was admitted to our hospital. Contrast-enhanced magnetic resonance imaging revealed multiple lesions in the left hemisphere, which indicates brain abscesses. Thus, the diagnosis of brain abscess mediated through PAVM was established. Following management with drainage and coil embolization, all neurological symptoms resolved. Therefore, coil embolization should be considered for PAVM at an early stage to prevent brain abscess, even if it is asymptomatic.

  20. Type II congenital pulmonary airway malformation associated with intralobar pulmonary sequestration: report of a case and review of classification criteria.

    PubMed

    Mastrogiulio, M G; Barone, A; Disanto, M G; Ginori, A; Ambrosio, M R; Carbone, S F; Spina, D

    2016-03-01

    Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels. The cells lining the cysts often were positive for D2-40 (oncofetal protein M2A). Lymphatic endothelial cells, positive for D2-40, were widely present in the lung parenchyma and dilated lymphatic vessels were present also in the inter-alveolar septa. Moreover, we discuss the pathogenesis of CPAM and its classification criteria. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

  1. Pulmonary arteriovenous malformations and embolic complications in patients with hereditary hemorrhagic telangiectasia.

    PubMed

    Angriman, Federico; Ferreyro, Bruno L; Wainstein, Esteban J; Serra, Marcelo M

    2014-07-01

    Patients with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformation (PAVM) face higher risk of embolic complications. It is not clear whether poor outcomes are related to PAVM severity or pulmonary symptoms. Furthermore, there is currently no available data on HHT patients in Argentina. We conducted a cross sectional study in a teaching hospital in Buenos Aires, Argentina. We describe baseline characteristics of HHT and compare the prevalence of embolic complications in patients with significant PAVM compared to patients without significant PAVM. One hundred and eight consecutive patients were included. Significant PAVM was defined as: contrast echocardiography grade 2 or greater; bilateral PAVM or feeding artery bigger than 3mm; or previous PAVM treatment. Primary composite outcome was defined as: cerebrovascular accident, cerebral abscess or peripheral embolism. 20% of participants had embolic complications, the most frequent one was stroke. Embolic complications were associated with significant PAVM and respiratory symptoms. Copyright © 2013 SEPAR. Published by Elsevier Espana. All rights reserved.

  2. Transseptal Guidewire Stabilization for Device Closure of a Large Pulmonary Arteriovenous Malformation

    SciTech Connect

    Joseph, George Kunwar, Brajesh Kumar

    2013-06-15

    A 46-year-old man presenting with massive hemoptysis was found to have a large pulmonary arteriovenous malformation (PAVM) in the right lung. Closure of the PAVM with an Amplatzer-type duct occluder was hampered by inability to advance the device delivery sheath into the PAVM due to vessel tortuosity and inadequate guidewire support. Atrial septal puncture was performed and a femorofemoral arteriovenous guidewire loop through the right pulmonary artery, PAVM, and left atrium was created. Traction on both ends of the guidewire loop allowed advancement of the device delivery sheath into the PAVM and successful completion of the procedure. Transseptal guidewire stabilization can be a valuable option during device closure of large PAVMs when advancement, stability, or kinking of the device delivery sheath is an issue.

  3. Treated pulmonary arteriovenous malformations: patterns of persistence and associated retreatment success.

    PubMed

    Woodward, Catherine S; Pyeritz, Reed E; Chittams, Jessie L; Trerotola, Scott O

    2013-12-01

    To determine the relative frequencies of persistence patterns in treated pulmonary arteriovenous malformations (PAVMs) and to assess whether there is a difference in retreatment outcomes between PAVMs persisting via recanalization and those persisting via reperfusion. Between May 2003 and May 2011, 23 patients (10 male, 13 female; mean age, 44 years ± 18 [standard deviation]; age range, 12-72 years) who had PAVM embolization, persistence by computed tomography (CT), and a follow-up pulmonary arteriogram were included. This retrospective study was approved by the institutional review board and was fully HIPAA compliant. PAVMs were categorized as having recanalization, defined as persistence maintained by flow through a previously placed coil nest; reperfusion, defined as persistence through small feeders from adjacent normal pulmonary arteries; or incomplete treatment. Fifty-three persistent PAVMs were characterized; 38 of which had postretreatment CT data (median follow-up, 1 year). The retreatment success rate, defined by sac shrinkage on CT images, was assessed. Recanalization was the most common pattern, occurring in 91% (n = 48) of 53 PAVMs. Pulmonary-to-pulmonary reperfusion occurred in 24% (n = 13) of 53 PAVMs. Angioarchitecture, coil-sac distance, coil number, and feeder diameter did not significantly differ between recanalized and reperfused PAVMs. There was a significant (P = .014) difference in retreatment success; retreatment was successful in 84% (n = 27) of 32 recanalized PAVMs but only 44% (n = 4) of nine reperfused PAVMs. Recanalization through previously placed coils is the most common pattern of PAVM persistence and responds best to retreatment. Pulmonary-to-pulmonary reperfusion is less common and more difficult to re-treat successfully. Online supplemental material is available for this article. © RSNA, 2013.

  4. A Case Report of Onyx Pulmonary Arterial Embolism Contributing to Hypoxemia During Awake Craniotomy for Arteriovenous Malformation Resection.

    PubMed

    Tolly, Brian T; Kosky, Jenna L; Koht, Antoun; Hemmer, Laura B

    2017-02-15

    A healthy 26-year-old man with cerebral arteriovenous malformation underwent staged endovascular embolization with Onyx followed by awake craniotomy for resection. The perioperative course was complicated by tachycardia and severe intraoperative hypoxemia requiring significant oxygen supplementation. Postoperative chest computed tomography (CT) revealed hyperattenuating Onyx embolization material within the pulmonary vasculature, and an electrocardiogram indicated possible right heart strain, supporting clinically significant embolism. With awake arteriovenous malformation resection following adjunctive Onyx embolization becoming increasingly employed for lesions involving the eloquent cortex, anesthesiologists need to be aware of pulmonary migration of Onyx material as a potential contributor to significant perioperative hypoxemia.

  5. A Case Report of Onyx Pulmonary Arterial Embolism Contributing to Hypoxemia During Awake Craniotomy for Arteriovenous Malformation Resection.

    PubMed

    Tolly, Brian T; Kosky, Jenna L; Koht, Antoun; Hemmer, Laura B

    2016-11-02

    A healthy 26-year-old man with cerebral arteriovenous malformation underwent staged endovascular embolization with Onyx followed by awake craniotomy for resection. The perioperative course was complicated by tachycardia and severe intraoperative hypoxemia requiring significant oxygen supplementation. Postoperative chest computed tomography (CT) revealed hyperattenuating Onyx embolization material within the pulmonary vasculature, and an electrocardiogram indicated possible right heart strain, supporting clinically significant embolism. With awake arteriovenous malformation resection following adjunctive Onyx embolization becoming increasingly employed for lesions involving the eloquent cortex, anesthesiologists need to be aware of pulmonary migration of Onyx material as a potential contributor to significant perioperative hypoxemia.

  6. A case of Multiple Unilateral Pulmonary arteriovenous Malformation Relapse: Efficacy of embolization treatment

    PubMed Central

    Masiello, Rossella; Iadevaia, Carlo; Grella, Edoardo; Tranfa, Carmelindo; Cerqua, Francesco; Rossi, Giovanni; Santoro, Giuseppe; Amato, Bruno; Rocca, Aldo; De Dona, Roberta; Lavoretano, Sabrina; Perrotta, Fabio

    2015-01-01

    Pulmonary arteriovenous Malformations (PAVMs) are a rare vascular alteration characterized by abnormal communications between the pulmonary arteries and veins resulting in an extracardiac right-to-left (R-L) shunt. The majority of PAVMs are associated with an autosomal dominant vascular disorder also known as Osler-Weber-Rendu Syndrome. PAVMs appearance can be both single and multiple. Clinical manifestations include hypoxemia, dyspnea cyanosis, hemoptysis and cerebrovascular ischemic events or abscesses. We report a case of an 18 year old female with severe respiratory failure caused by a relapse of multiple unilateral pulmonary arterovenous fistula. Symptoms at admission include dyspnea, cyanosis and clubbing. The patient underwent pulmonary angio-TC scan, brain CT and echocardiography. The thoracic angio-CT scan showed the presence of PAVMs of RUL and RLL; a marked increase of right bronchial artery caliber and its branches with an aneurismatic dilatation was also observed. The patient underwent percutaneous transcatheter embolization using Amplatzer Vascular Plug IV; a relevant clinical and functional improvement was subsequently recorded. Embolization is effective in the treatment of relapsing PAVMS. PMID:28352746

  7. Automatic detection and quantification of pulmonary arterio-venous malformations in hereditary hemorrhagic telangiectasia

    NASA Astrophysics Data System (ADS)

    Fetita, Catalin; Fortemps de Loneux, Thierry; Kouvahe, Amélé Florence; El Hajjam, Mostafa

    2017-03-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomic dominant disorder, which is characterized by the development of multiple arterio-venous malformations in the skin, mucous membranes, and/or visceral organs. Pulmonary Arterio-Venous Malformation (PAVM) is an abnormal connection where feeding arteries shunt directly into draining veins with no intervening capillary bed. This condition may lead to paradoxical embolism and hemorrhagic complications. PAVMs patients should systematically be screened as the spontaneous complication rate is high, reaching almost 50%. Chest enhanced contrast CT scanner is the reference screening and follow-up examination. When performed by experienced operators as the prime treatment, percutaneous embolization of PAVMs is a safe, efficient and sustained therapy. The accuracy of PAVM detection and quantification of its progression over time is the key of embolotherapy success. In this paper, we propose an automatic method for PAVM detection and quantification relying on a modeling of vessel deformation, i.e. local caliber increase, based on mathematical morphology. The pulmonary field and vessels are first segmented using geodesic operators. The vessel caliber is estimated by means of a granulometric measure and the local caliber increase is detected by using a geodesic operator, the h-maxdomes. The detection sensitivity can be tuned up according to the choice of the h value which models the irregularity of the vessel caliber along its axis and the PAVM selection is performed according to a clinical criterion of >3 mm diameter of the feeding artery of the PAVM. The developed method was tested on a 20 patient dataset. A sensitivity study allowed choosing the irregularity parameter to maximize the true positive ratio reaching 85.4% in average. A specific false positive reduction procedure targeting the vessel trunks of the arterio-venous tree near mediastinum allows a precision increase from 13% to 67% with an average number of 1

  8. Severe pulmonary oedema following therapeutic embolization with Onyx for cerebral arteriovenous malformation.

    PubMed

    Murugesan, C; Saravanan, Sundararaj; Rajkumar, John; Prasad, Jagadish; Banakal, Sanjay; Muralidhar, Kanchi

    2008-05-01

    Acute respiratory distress syndrome (ARDS) is characterized by sudden onset of respiratory distress, infiltrates on radiographs consistent with pulmonary oedema, hypoxaemia and increased work in breathing. Infiltrates on radiographs are bilateral, but may be patchy or diffuse and fluffy or dense. It is associated with absence of left heart failure and a PaO2/FiO2 ratio of < or =200. Ethylene vinyl alcohol copolymer dissolved in dimethyl sulfoxide (DMSO), which was approved by the US FDA in July 2005, is used as an embolic agent for cerebral arteriovenous malformation (AVM). It is a biocompatible liquid polymer that precipitates and solidifies on contact with blood, thus forming a soft and spongy embolus. We report a case of ARDS following therapeutic embolization with ethylene vinyl alcohol copolymer for cerebral AVM under general anaesthesia. Experienced perioperative physicians adopted standard anaesthetic technique and monitoring for this procedure. Acute respiratory distress and hypoxaemia developed in the patient following extubation of the trachea. Infiltrates seen on postprocedural chest radiographs were consistent with pulmonary oedema. DMSO, the solvent for the ethylene vinyl alcohol copolymer, is excreted via the lungs after administration and we postulate that DMSO was the possible cause of ARDS in this patient. Monitoring of haemodynamic parameters (invasive blood pressure, electrocardiography) and ventilatory parameters (ETCO2, SpO2, airway pressure monitoring) are important in the recognition of this possible event. One should be vigilant and anticipate this complication following therapeutic embolization with ethylene vinyl alcohol polymer for the treatment of cerebral AVM.

  9. Pulmonary malformation in transgenic mice expressing human keratinocyte growth factor in the lung.

    PubMed Central

    Simonet, W S; DeRose, M L; Bucay, N; Nguyen, H Q; Wert, S E; Zhou, L; Ulich, T R; Thomason, A; Danilenko, D M; Whitsett, J A

    1995-01-01

    Expression of human keratinocyte growth factor (KGF/FGF-7) was directed to epithelial cells of the developing embryonic lung of transgenic mice disrupting normal pulmonary morphogenesis during the pseudoglandular stage of development. By embryonic day 15.5(E15.5), lungs of transgenic surfactant protein C (SP-C)-KGF mice resembled those of humans with pulmonary cystadenoma. Lungs were cystic, filling the thoracic cavity, and were composed of numerous dilated saccules lined with glycogen-containing columnar epithelial cells. The normal distribution of SP-C proprotein in the distal regions of respiratory tubules was disrupted. Columnar epithelial cells lining the papillary structures stained variably and weakly for this distal respiratory cell marker. Mesenchymal components were preserved in the transgenic mouse lungs, yet the architectural relationship of the epithelium to the mesenchyme was altered. SP-C-KGF transgenic mice failed to survive gestation to term, dying before E17.5. Culturing mouse fetal lung explants in the presence of recombinant human KGF also disrupted branching morphogenesis and resulted in similar cystic malformation of the lung. Thus, it appears that precise temporal and spatial expression of KGF is likely to play a crucial role in the control of branching morphogenesis during fetal lung development. Images Fig. 1 Fig. 2 Fig. 3 PMID:8618921

  10. An Atypical Presentation of Congenital Pulmonary Airway Malformation (CPAM): A Rare Case with Antenatal Ultrasound Findings and Review of Literature.

    PubMed

    Gautam, Munnangi Satya; Naren Satya, Srinivas M; Prathyusha, Ivvala Sai; Reddy, K Hema Chandra; Mayilvaganan, Kamala Retnam; Raidu, Deepthi

    2017-01-01

    Congenital pulmonary airway malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound features depending on the specific variety of CPAM. Antenatal ultrasound is a valuable, safe, nonionizing, cost-effective, widely available and easily reproducible imaging tool and is indispensable in the diagnosis of CPAM. In this paper, we aimed to report an atypical imaging presentation of CPAM type II in the second trimester, extensively involving all lobes of the left lung. A 25-year-old G1P0A0 woman with a gestational age of around 22 weeks was referred for an anomaly scan. The antenatal ultrasound scan showed a single, live, intrauterine foetus corresponding to a gestational age of around 22 weeks and 4 days. There were multiple, anechoic structures noted within the pulmonary tissue in the left hemithorax, each measuring around 3 to 4 mm in diameter. The lesion was extending from the left lower lobe up to the apical (apicoposterior) segment of the left upper lobe. The ultrasound diagnosis of congenital pulmonary airway malformation type II was made. After explaining the condition and the poor prognosis to the patient, an informed consent was obtained after she opted for medical termination of pregnancy. Congenital pulmonary airway malformation (CPAM) is an uncommon foetal anomaly with a very wide range of ultrasound appearances depending on the specific type of CPAM. CPAM also has a wide spectrum of differential diagnoses and a variable prognosis. Antenatal ultrasound should always be the primary mode of diagnosis in CPAM.

  11. Pulmonary arteriovenous malformation (PAVM) reperfusion after percutaneous embolization: Sensitivity and specificity of non-enhanced CT.

    PubMed

    Bélanger, Chantale; Chartrand-Lefebvre, Carl; Soulez, Gilles; Faughnan, Marie E; Tahir, Muhammad Ramzan; Giroux, Marie-France; Gilbert, Patrick; Perreault, Pierre; Bouchard, Louis; Oliva, Vincent L; Therasse, Eric

    2016-01-01

    To evaluate the sensitivity and specificity of non-enhanced chest CT to detect reperfusion after pulmonary arteriovenous malformation (PAVM) embolization. The Institutional Review Board approved this retrospective HIPAA-compliant study and waived the need for patient consent. All consecutive patients who underwent PAVM embolization between January 2000 and April 2011 were included. Complex PAVMs and patients without available pre- and/or post-embolization CT were excluded. PAVM artery, aneurysm and vein diameters were measured on non-enhanced chest CT before and after PAVM embolization. Pulmonary angiography (PA) was the reference standard to assess PAVM reperfusion. Reperfusion detection was analyzed with receiver operating characteristic (ROC) curves according to percentage of diameter reduction cut-off. Inter-observer concordance was ascertained with intra-class correlation coefficients (ICCs). Out of 68 patients with PAVM embolizations, 42 (62%) had 108 PAVMs that met inclusion/exclusion criteria. Areas under the ROC curves for PAVM reperfusion detection were 0.84, 0.87, and 0.78, respectively, for PAVM artery, aneurysm and vein (p>0.05). Sensitivity varied between 51% and 56%, and specificity between 86% and 98% for the <30% diameter reduction cut-off. Sensitivity was between 98% and 100%, and specificity, between 20% and 47% for the <70% diameter reduction cut-off. ICCs for inter-observer concordance were 0.58, 0.88 and 0.68 for percentage reduction of PAVM artery, aneurysm and vein, respectively. PAVM diameter reduction cut-offs of <30% and <70%, to detect PAVM reperfusion on non-enhanced CT reported in the literature, would respectively result in low sensitivity and specificity. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. Retrospective Evaluation of Children with Congenital Pulmonary Airway Malformation: A Single Center Experience of 20 Years.

    PubMed

    Ortac, Ragip; Diniz, Gulden; Yildirim, Hulya Tosun; Aktas, Safiye; Karaca, Irfan

    2016-01-01

    Congenital pulmonary airway malformation (CPAM) is an uncommon congenital abnormality of the lungs that generally presents during prenatal period or early childhood. In this study, we aimed to evaluate clinical and pathologic findings of the children with CPAMs who were referred to our center between 1992 and 2011. We reviewed 19 children with CPAM, who were diagnosed and treated at the Izmir Dr. Behçet Uz Children's Hospital between 1992 and 2011. All of them are alive and have been still followed up by our center. The study population consisted of 9 boys (47.4%) and 10 girls (52.6%) with a mean age of 3.26 (1 month - 13 years). Most newborns had respiratory distress, while recurrent pulmonary infections were detected in older children. Surgical treatment was performed on patients with subtypes I (n = 4; 21.1%), II (n = 8; 42.1%), III (n = 5; 26.3%), and IV (n = 2; 10.5%). In 13 cases (63.4%), lesions were located in the right lung and in almost all cases lesions were confined to one lobe. A one-month- old child with type I CPAM had multiple lesions involving two lobes and in only a newborn with type II CPAM, lesions were located bilaterally. There was no type 0 cases in this series. All cases were treated with lobectomy without any complication. In the present study, a realistic comprehensive picture of CPAM in a central children's hospital has been provided. In addition, we want to emphasize that complications and unnecessary medical treatment could be reduced with early surgery.

  13. Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.

    PubMed

    Saji, Naoki; Kawarai, Toshitaka; Miyamoto, Ryosuke; Sato, Takahiro; Morino, Hiroyuki; Orlacchio, Antonio; Oki, Ryosuke; Kimura, Kazumi; Kaji, Ryuji

    2015-05-15

    Hereditary hemorrhagic telangiectasia (HHT) occasionally can be discovered in patients with cerebrovascular disease. Pulmonary arteriovenous malformation (PAVM) is one of the complications in HHT and occasionally is causative for life-threatening embolic stroke. Several genetic defects have been reported in patients with HHT. The broad spectrum of phenotype and intrafamilial phenotype variations, including age-at-onset of vascular events, often make an early diagnosis difficult. We present here a Japanese family with a novel intronic heterozygous mutation of ENG, which was identified using whole exome sequencing (WES). The intronic mutation, IVS3+4delAGTG, results in in-frame deletion of exon 3 and would produce a shorter ENG protein lacking the extracellular forty-seven amino acid sequences, which is located within the orphan domain. Our findings highlight the importance of the domain for the downstream signaling pathway of transforming growth factor-beta and bone morphogenesis protein superfamily receptors. Considering the phenotype variations and the available treatment for vascular complications, an early diagnosis using genetic testing, including WES, should be considered for individuals at risk of HHT. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations: a prospective 8-year series.

    PubMed

    Santhirapala, V; Chamali, B; McKernan, H; Tighe, H C; Williams, L C; Springett, J T; Bellenberg, H R; Whitaker, A J; Shovlin, C L

    2014-11-01

    Postural changes in 258 patients with pulmonary arteriovenous malformations (PAVMs) reviewed between 2005 and 2013 were evaluated prospectively using validated pulse oximetry methods. Of the 257 completing the test, 75 (29%) demonstrated orthodeoxia with an oxygen saturation fall of at least 2% on standing. None described platypnoea (dyspnoea on standing). The heart rate was consistently higher in the erect posture: 74 (29%) had a postural orthostatic tachycardia of ≥20 min(-1), and in 25 (10%) this exceeded 30 min(-1). Orthostatic tachycardia was more pronounced in PAVM patients than controls without orthodeoxia (age-adjusted coefficient 5.5 (95% CIs 2.6, 8.4) min(-1), p<0.001). For PAVM patients, the age-adjusted pulse rise was 0.79 min(-1) greater for every 1% greater drop in oxygen saturation on standing (p<0.001). In contrast to the postural orthostatic tachycardia syndrome, in this population, there was a trend for more pronounced orthostatic tachycardia to be associated with better exercise tolerance.

  15. Possible role of WT1 in a human fetus with evolving bronchial atresia, pulmonary malformation and renal agenesis.

    PubMed

    Loo, Christine K C; Algar, Elizabeth M; Payton, Diane J; Perry-Keene, Joanna; Pereira, Tamara N; Ramm, Grant A

    2012-01-01

    The association of peripheral bronchial atresia and congenital pulmonary airway malformation (CPAM) has recently been recognised, but the pathology of the lesions evolving together has not been described. We present autopsy findings in a 20 week fetus showing areas of peripheral bronchial destruction and airway malformation consistent with developing CPAM in the right lung supporting a causal relationship between these lesions. This fetus also had congenital heart defect, bilateral renal agenesis and syndactyly. We identified another fetus from our autopsy files, with bilateral renal agenesis, similar right sided pulmonary malformation and cardiac defects. Similar bilateral renal agenesis and defects of the heart and lungs are found in wt1(-/-) mice and we have investigated the expression of WT1 in these fetuses. We hypothesise that the cardiac, liver, renal and possibly lung lesions in these two cases may arise due to mesenchymal defects consequent to WT1 misexpression and discuss evidence for this from the scientific literature. We used immunoperoxidase stains to analyse WT1 expression in autopsy hepatic tissue in both fetuses. We also investigated the expression of α-smooth muscle actin (α-SMA), a marker of activated hepatic stellate cells/myofibroblasts, and desmin in hepatic mesenchyme and compare these findings with control fetuses, without congenital malformations. We found reduced WT1 expression in hepatic mesothelium in both fetuses with malformations. There was also increased expression of α-SMA in liver perisinusoidal cells, as seen in the wt1(-/-) mouse model. We therefore propose that abnormality of WT1 signalling may be an underlying factor, as WT1 is expressed in coelomic lining cells from which mesenchyme is derived in many organs.

  16. Large fetal pulmonary arteriovenous malformation detected at midtrimester scan with subsequent high cardiac output syndrome and favorable postnatal outcome.

    PubMed

    Hellmund, A; Berg, C; Bryan, C; Schneider, M; Hraška, V; Gembruch, U

    2014-01-01

    Prenatal diagnosis of pulmonary arteriovenous malformations (PAVM), caused by abnormal communications between pulmonary arteries and pulmonary veins, is rarely described. We report a case of a PAVM between the right pulmonary artery and the left atrium, referred to our prenatal unit at 22 + 1 weeks of gestation, with severe cardiomegaly, dilation of the right pulmonary artery and a right pulmonary vein and retrograde flow in the ductus arteriosus. The fistula was located in the right lung and showed a broad, disturbed flow at color Doppler with high velocity and low pulsatility. The fetus was monitored weekly and cardiac function remained sufficient until 36 + 1 weeks of gestation, when increasing cardiomegaly prompted delivery by cesarean section. The newborn was transferred to the neonatal intensive care unit, intubated and the fistula was surgically removed. The boy could be discharged at the 43rd day of life and showed an uneventful course until the last follow-up at the age of 4 years, with no residual mental or physical handicaps and a normal cardiac function. Despite adverse outcomes described in previously reported cases of large PAVM complicated by severe cardiomegaly at midtrimester scan, our case had a good outcome. © 2013 S. Karger AG, Basel.

  17. Triaxial System in Re-Embolization for Recanalization of Pulmonary Arteriovenous Malformations

    PubMed Central

    Shimohira, Masashi; Hashizume, Takuya; Kawai, Tatsuya; Muto, Masahiro; Ohta, Kengo; Suzuki, Kazushi; Shibamoto, Yuta

    2015-01-01

    Summary Background Recanalization occurs occasionally, following coil embolization of pulmonary arteriovenous malformations (PAVM), and can lead to ischemic stroke; therefore re-embolization is important. A 1.9-Fr. no-taper microcatheter that can be inserted into a 2.7-Fr. microcatheter (named the triaxial system) has recently become available, and contributes to super-selective catheterization for small or tortuous vessels. The aim of this study was to evaluate the usefulness of re-embolization for recanalization of PAVM using the triaxial system. Material/Methods Recanalization was diagnosed in 8 patients with 13 PAVMs between June 2011 and November 2012, and re-embolization was attempted with a conventional microcatheter at first in all 13 PAVMs. However, in three of them it failed with the conventional microcatheter, and then the system was exchanged to the triaxial system. Thus, re-embolization using the triaxial system was performed in 3 PAVMs of 3 female patients, with a median age of 63 years (range, 46–73 years). We assessed technical success, complications, and outcome. Results The disappearance of recanalization was confirmed by angiography in all re-embolization procedures (technical success rate was 100%). Re-embolization was then successfully achieved inside the original coils, and no branch artery of normal lung tissue was embolized. There were no complications related with this procedure. The blood flow of recanalization was decreased in all cases in a follow-up of 27–33 months (median, 31). Conclusions Triaxial system appears to be useful for recanalization of PAVM, especially in difficult cases with a conventional system. PMID:25691920

  18. Onyx, a New Liquid Embolic Material for Peripheral Interventions: Preliminary Experience in Aneurysm, Pseudoaneurysm, and Pulmonary Arteriovenous Malformation Embolization

    SciTech Connect

    Vanninen, Ritva L. Manninen, I.

    2007-04-15

    Purpose. To describe our preliminary experience with a new liquid embolization agent, Onyx, in peripheral interventions. Methods and results. We successfully treated two peripheral aneurysms (one in an internal iliac artery, one in a thoracic collateral artery of an aortic coarctation), two peripheral pseudoaneurysms (one in a lumbar artery, one in a renal artery), and one pulmonary arteriovenous malformation. Conclusion. Onyx is a promising alternative embolic material for peripheral interventions. It can be combined with coils in selected cases, and balloon catheters can be effectively used during slow injection of embolic material to control flow and protect the aneurysm neck.

  19. Iron deficiency, ischaemic strokes, and right-to-left shunts: From pulmonary arteriovenous malformations to patent foramen ovale?

    PubMed Central

    Shovlin, Claire L.

    2014-01-01

    Summary Has the recent identification of iron deficiency as a risk factor for ischaemic stroke in patients with pulmonary arteriovenous malformations (AVMs) unmasked a new paradigm for stroke/infarct pathogenesis? This commentary reviews evidence that spans associations between iron deficiency and ischaemic strokes, iron deficiency enhancement of platelet aggregation in response to serotonin/5HT, settings in which plasma 5HT is elevated, and clinical trial confirmation that 5HT receptor antagonists prevent ischaemic stroke. The critical leap which directs attention away from atherothrombotic events at the neurovascular wall is that ischaemic strokes due to pulmonary AVMs are attributable to compromised pulmonary capillary bed filtration of venous blood. Right-to-left shunting is continuous through pulmonary AVMs, but also occurs intermittently in approximately 30% of the general population with intracardiac shunts such as patent foramen ovale (PFO). The testable hypothesis presented is that paradoxical embolism of venous platelet-based aggregates may constitute part of the causal chain between iron deficiency and ischaemic stroke, not only in the rare disease state of pulmonary AVMs, but also in major subgroups of the general population. PMID:25343129

  20. Identical twins with lethal congenital pulmonary airway malformation type 0 (acinar dysplasia): further evidence of familial tendency.

    PubMed

    DeBoer, Emily M; Keene, Sarah; Winkler, Annne M; Shehata, Bahig M

    2012-08-01

    We report a case of identical twins with lethal congenital pulmonary airway malformation (CPAM) type 0. Twin A expired several hours after birth, and twin B was sustained by extra-corporeal membrane oxygenation (ECMO) support; however, care was withdrawn from twin B following the autopsy of twin A, which revealed a diagnosis of CPAM type 0. Both twins showed pulmonary hypoplasia, histologically consistent with CPAM type 0 and pulmonary hypertension. Furthermore, the family also had a previous male who presented with pulmonary hypoplasia and respiratory failure and died shortly after birth; however, no autopsy was performed to confirm a diagnosis of CPAM. Here, in discussing our case, as well as previously reported cases, we demonstrate CPAM type 0's high prevalence among females (9:1 ratio). From the reported cases, it appears that CPAM type 0's tendency to recur in families is up to 40%, suggesting an autosomal recessive inheritance pattern. However, the actual tendency of familial recurrence is hard to assess due to the rarity of the disease and the potential lack of reporting CPAM type 0 cases. To our knowledge, our report represents the first description of CPAM type 0 in identical twins.

  1. In Situ Fracture of Stents Implanted for Relief of Pulmonary Arterial Stenosis in Patients with Congenitally Malformed Hearts

    PubMed Central

    McElhinney, Doff B.; Bergersen, Lisa; Marshall, Audrey C.

    2014-01-01

    Background One of the most common uses of stents in patients with congenitally malformed hearts is treatment of pulmonary arterial stenosis. Although there are reports of fractured pulmonary arterial stents, little is known about the risk factors for, and implications of, such fractures. Methods We reviewed angiograms to identify fractures in stents previously inserted to relieve stenoses in pulmonary arteries from 1990 through 2001 in patients who also underwent follow-up catheterization at least 3 years after placement of the stent. We undertook matched cohort analysis, matching a ratio of 2 fractured to 1 unfractured stent. Results Overall, 166 stents meeting the criterions of our study had been placed in 120 patients. We identified fractures in 35 stents (21%) in 29 patients. All fractured stents were in the central pulmonary arteries, 24 (69%) in the central part of the right pulmonary artery, and all were complete axial fractures, or complex fractures along at least 2 planes. Stent-related factors associated with increased risk of fracture identified by multivariable logistic regression included placement in close apposition to the ascending aorta (p = 0.001), and a larger expanded diameter (p = 0.002). There was obstruction across 28 of 35 fractured stents, which was severe in 11. We re-stented 21 of the fractured stents, and recurrent fracture was later diagnosed in 3 of these. A fragment of the fractured stent embolized distally in 2 patients, without clinically important effects. Conclusions In situ fracture of pulmonary arterial stents is relatively common, and in most cases is related to compression by the aorta. There is usually recurrent obstruction across the fractured stent, but fractured stents rarely embolize, and are not associated with other significant complications. PMID:18559137

  2. Hybrid palliation in complex congenital heart malformation with duct-dependent isolated pulmonary artery.

    PubMed

    Marrone, Chiara; Santoro, Giuseppe; Palladino, Maria Teresa; Caianiello, Giuseppe; Russo, Maria Giovanna; Calabrò, Raffaele

    2011-06-02

    A 2 month-old infant with severe congestive heart failure due to unrestrictive ventricular septal defect and absence of the left pulmonary artery was submitted to a hybrid transcatheter-surgical palliation consisting in percutaneous re-canalization of the occluded arterial duct-left pulmonary artery complex and surgical banding of the right pulmonary artery. The post-operative course was uneventful and the baby was discharged in a few days under mild anti-congestive therapy. This hybrid approach was highly effective in stabilizing this critical infant in view of a later and safer surgical repair.

  3. Follicular adenomatoid odontogenic tumor: immunohistochemical study.

    PubMed

    Vera Sempere, Francisco José; Artes Martínez, María Jose; Vera Sirera, Beatriz; Bonet Marco, Jaime

    2006-07-01

    Adenomatoid odontogenic tumor (AOT) is an uncommon benign odontogenic lesion that affects young patients, with female predominance, mainly in second decade, showing a radiolucent unilocular image associated with an unerupted tooth, usually a canine. In spite of previous and confusing denominations, such as adenoameloblastoma or adenomatoid ameloblastic tumor, AOT is a benign tumor with a very low rate of recurrence, that show a peculiar morphological picture (basaloid appearance with glandular-like structures, calcifying areas, and amiloid-like material) that allow its histopathological recognition. We present a clinicopathological analysis of a case of follicular AOT affecting the mandible in a 9 years-old female patient associated with unerupted lower left canine. Immunohistochemical study showed some data previously unrecognised. All cellular types that composed AOT showed nuclear positivity for p63 indicating a basal characterization in the different cellular components. According to its benign character and low potential for recurrence, AOT revealed a scant proliferative activity (2-3% nuclei showed Ki-67 positivity) limited to some epithelial nodules (AE1-3 +) of fusiform appearance. Absence of reactivity for hormonal receptors (RE and RPg) excluded a possible hormonodependence in AOT that could explain the observed female predominance.

  4. [Adenomatoid tumor of the uterus--2 case reports].

    PubMed

    Dietterle, S; Hantschick, M; Stosiek, P

    1997-01-01

    We report two cases of the so-called adenomatoid tumor of the uterus, which have been detected in patients who underwent surgery for leiomyomas. The clinical signs, origin and immunohistochemical characteristics of the adenomatoid tumor are described. Adenomatoid tumors are slow growing epithelioid neoplasias with a co-expression of vimentin and cytokeratins. The characteristic cytokeratins are numbered 7, 8, 18, 19 and 5. The mesothelial histogenesis of the tumor can be confirmed. Our results rule out origins from Müllerian or mesonephrogenous ducts and angioma or adenoma. Considering our experiences, adenomatoid and leiomyoma cannot be distinguished macroscopically. The hysterectomy or salpingo-oophorectomy, primarily performed under other diagnoses, are the therapies of choice.

  5. Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation

    PubMed Central

    Hellmund, Astrid; Berg, Christoph; Geipel, Annegret; Bludau, Meike; Heydweiller, Andreas; Bachour, Haitham; Müller, Andreas; Müller, Annette; Gembruch, Ulrich

    2016-01-01

    Objective To describe antenatal findings and evaluate prenatal risk parameters for adverse outcome or need for intervention in fetuses with congenital pulmonary airway malformation (CPAM). Methods In our retrospective study all fetuses with a prenatal diagnosis of CPAM detected in our tertiary referral center between 2002 and 2013 were analyzed. Sonographic findings were noted and measurements of mass-to-thorax-ratio (MTR), congenital pulmonary airway malformation volume-ratio (CVR) and observed to expected lung-to head-ratio (o/e LHR) were conducted and correlated to fetal or neonatal morbidity and mortality and/or need for prenatal intervention. Results 67 fetuses with CPAM were included in the study. Hydropic fetuses were observed in 16.4% (11/67) of cases, prenatal intervention was undertaken in 9 cases; 7 pregnancies were terminated. The survival rate of non-hydropic fetuses with conservatively managed CPAM was 98.0% (50/51), the survival rate for hydropic fetuses with intention to treat was 42.9% (3/7). 10 (18.2%) children needed respiratory assistance. Fetuses with a CVR of <0.91 were significantly less likely to experience adverse outcome or need for prenatal intervention with sensitivity, specificity and positive/negative predictive value of 0.89, 0.71, 0.62 and 0.93, respectively. A MTR (mass-to-thorax-ratio) of < 0.51 had a positive predictive value of 0.54 and a negative predictive value of 0.96 of adverse events with a sensitivity of 0.95 and a specificity of 0.63. The negative predictive value for o/e LHR of 45% was 0.84 with sensitivity, specificity and positive predictive value of 0.73, 0.68 and 0.52, respectively. Conclusions The majority of cases with CPAM have a favorable outcome. MTR and CVR are able to identify fetuses at risk, the o/e LHR is less sensitive. PMID:26978067

  6. Is congenital pulmonary airway malformation really a rare disease? Result of a prospective registry with universal antenatal screening program.

    PubMed

    Lau, C T; Kan, A; Shek, N; Tam, P; Wong, K K Y

    2017-01-01

    Congenital pulmonary airway malformation (CPAM) is an increasingly recognized disease with potential mortality. Owing to limited published studies, the true incidence is yet to be determined. We carried out this prospective study with the aim to estimate its true incidence on a population basis. An antenatal ultrasonography program was implemented since 2009. Fetuses with suspected intra-thoracic lesions were monitored by regular follow-ups. Antenatal course, postnatal outcomes, and other demographics were compared to those of patients with CPAM in the previous decades (1989-2008). The incidence of CPAM was calculated in different periods. 66 CPAM patients were identified between 2009 and 2014 with 62 patients being detected by antenatal scan. In contrast, 45 patients were identified between 1989 and 2008 with 27 patients being detected antenatally. The incidence rate during the past and recent period was estimated as ~1 in 27,400 and ~1 in 7200 live births, respectively (p = 0.024). With increasing awareness of clinicians and the universal use of latest ultrasound technology, it is likely that more CPAM cases will be detected in the future. Here, we presented our best estimated incidence rate of CPAM, yet only a larger scale study can reveal its true incidence.

  7. Favorable outcomes in high-risk congenital pulmonary airway malformations treated with multiple courses of maternal betamethasone.

    PubMed

    Derderian, S C; Coleman, A M; Jeanty, C; Lim, F Y; Shaaban, A M; Farrell, J A; Hirose, S; MacKenzie, T C; Lee, H

    2015-04-01

    Congenital pulmonary airway malformations (CPAMs) are rare congenital lung lesions often diagnosed by prenatal ultrasound. High-risk cases can result in hydrops and prenatal or postnatal demise. Antenatal betamethasone has resulted in improved survival but it is unclear how to manage patients who do not respond to a single course. We present a bi-institutional retrospective review of patients treated with multiple courses of prenatal steroids for high-risk CPAMs between 2007 and 2013. Nine patients met inclusion criteria. All but one either had an increased CPAM volume ratio (CVR) or number of fluid-containing compartments involved after a single course of antenatal betamethasone, prompting additional courses. Four patients stabilized, three improved and two progressed after the second course. The two cases with disease progression underwent an in utero resection. There were one in utero fetal demise and two deaths within the delivery room. Both fetuses that underwent a fetal resection died. All but one mother who delivered a viable fetus had complications of pregnancy. Multiple courses of antenatal betamethasone for high-risk fetal CPAMs often result in favorable short-term outcomes without the need for open fetal resection. Pregnancy complications are common and women within this cohort should be monitored closely. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation

    PubMed Central

    Haider, Fayza; Al Saad, Khulood; Al-Hashimi, Fatima; Al-Hashimi, Hakima

    2017-01-01

    Pleuropulmonary blastoma (PPB) is a rare aggressive malignant tumor of infancy and early childhood. The tumor arises in the lung and pleura and is regarded as a pulmonary dysontogenetic or embryonic neoplasm. Four types are defined in literature. Type I PPB is a rare, cystic lung neoplasm in infants characterized by subtle malignant changes and a good prognosis. Recurrences after type I PPB are usually advanced with a poor prognosis. We report this case to increase awareness about this entity so that the pediatricians, pediatric surgeons, radiologist, and pathologist recognize it early. PMID:28405541

  9. Contemporary role of minimally invasive thoracic surgery in the management of pulmonary arteriovenous malformations: report of two cases and review of the literature.

    PubMed

    Bakhos, Charles T; Wang, Stephani C; Rosen, Jonathan M

    2016-01-01

    Pulmonary arteriovenous malformations (PAVM) can have potentially serious neurological and cardiac consequences if left untreated. Embolization has supplanted surgical resection as the first line treatment modality. However, this technique is not always successful and carries risks of air embolism, migration of the coil, myocardial rupture, vascular injury, pulmonary hypertension, and pulmonary infarction. We present two patients with symptomatic PAVM despite multiple embolizations: the first one with recurrent and persistent hemoptysis who underwent a thoracoscopic lobectomy, and the second one with chronic debilitating pleuritic pain subsequent to embolization who underwent a thoracoscopic wedge resection. Video-assisted thoracoscopic surgery (VATS) with lung resection was successfully performed in both patients, with complete resolution of their symptoms. We also review the literature regarding the contemporary role of surgery in PAVM, particularly thoracoscopy.

  10. Epididymal Adenomatoid Tumor: A Very Rare Paratesticular Tumor of Childhood

    PubMed Central

    Kaselas, Christos; Theocharides, Constantine; Kalogirou, Maria; Farmakis, Konstantinos; Feidantsis, Thomas

    2016-01-01

    Adenomatoid tumor is an uncommon benign mesothelial neoplasm, usually localized in the epididymis. It is the most common paratesticular tumor of middle-aged patients (average age of clinical presentation: 36 years). However, these tumors in pediatric and pubertal patients are extremely rare. Due to their rarity, we present a case of adenomatoid tumor of the tail of the epididymis in a 16-year-old patient. After systematic research of the current literature, we did not find another case report of epididymal adenomatoid tumor in a male patient aged 16 years old or less. This notice and our concern, as well, about the patient's surveillance protocol during the postoperative period were the motive for this case study. PMID:28003830

  11. Does the type and size of Amplatzer vascular plug affect the occlusion time of pulmonary arteriovenous malformations?

    PubMed Central

    Abdel-Aal, Ahmed Kamel; Massoud, Moustafa Omar; Elantably, Dina Mahmoud

    2017-01-01

    PURPOSE Occlusion time (OT) is an important factor in the treatment of pulmonary arteriovenous malformations (PAVMs) since it can lead to serious complications. The purpose of our study is to calculate the OT of Amplatzer vascular plug (AVP, St Jude Medical), and correlate it to the type of the device used (AVP or AVP 2) and the percent of device oversizing. Technical success rates and complications were also recorded. METHODS We retrospectively studied a total of 19 patients with 47 PAVMs who received percutaneous transcatheter embolization therapy using either AVP or AVP 2. We recorded the location, type, feeding artery diameter, AVP device used, and OT of each PAVM. We correlated the percent of device oversizing and the type of AVP with the OT. We also studied the rate of persistence of PAVM for both devices. RESULTS Forty-six (98%) of the PAVMs were simple. Device diameters ranged from 4.0–16.0 mm with device oversizing ranging between 14% and 120%. There was a statistically significant difference in the OT of AVP and AVP 2 (3 min 54 s vs. 5 min 30 s, P = 0.030). There was a weak positive correlation between OT and device oversizing for AVP (r=0.246, P = 0.324) and AVP 2 (r=0.261, P = 0.240). No major complications were identified. Immediate technical success rate was 100%. CONCLUSION The use of AVP 2, and increase in device oversizing were not associated with reduction in the OT of PAVMs. There was no reported difference in safety between the two devices, and no major complications were noted. PMID:27856403

  12. Unilateral pulmonary agenesis: a report of four cases, two diagnosed antenatally and literature review.

    PubMed

    Kayemba-Kay's, S; Couvrat-Carcauzon, V; Goua, V; Podevin, G; Marteau, M; Sapin, E; Levard, G

    2014-03-01

    Pulmonary agenesis is a rare congenital malformation of lung development defined as complete absence of lung tissues, bronchi, and pulmonary vessels; it may be uni- or bilateral. The right-sided form carries the poorest prognosis due to severity of co-existent anomalies. Its diagnostic circumstances are variables: first reported cases were diagnosed at autopsy, but early postnatal as well as fortuitous discovery have been reported. In recent years, progress in obstetrical imaging has made antenatal diagnosis possible so that fetal ultrasound and MRI allow early diagnosis and refinement by permitting the elimination of differential diagnoses (diaphragmatic hernia, cystic adenomatoid malformation of the lung, giant lobar emphysema, and situs inversus). This anomaly is compatible with normal life provided co-existent malformations are thoroughly investigated and managed in a multidisciplinary setting. We report four cases of lung agenesis two of which were diagnosed antenatally at 23rd and 30th weeks of gestation respectively. Our aim is to describe the circumstances having led to diagnosis and report both follow-up and outcome of our patients.

  13. Follicular Adenomatoid Odontogenic Tumor in Mandible: A Rare Case Report

    PubMed Central

    Belgaumi, UI; Parkar, MI; Malik, NA; Suresh, KV; Havewala, AM; Bhalinge, PM

    2015-01-01

    Adenomatoid odontogenic tumor (AOT) is a relatively rare, benign, hamartomatous, and cystic odontogenic neoplasm that was first described more than a century ago. The lesion still continues to intrigue experts with its varied histomorphology and controversies regarding its development. The present article describes a case of cystic AOT with an unusual histomorphology associated with an impacted 44 in a 21-year-old male. PMID:27057389

  14. Extrafollicular Adenomatoid Odontogenic Tumor: An Unusual Case Presentation

    PubMed Central

    Reddy Kundoor, Vinay Kumar; Maloth, Kotya Naik; Guguloth, Nagu Naik; Kesidi, Sunitha

    2016-01-01

    Adenomatoid odontogenic tumor (AOT) is an uncommon tumor of odontogenic origin and often misdiagnosed as an odontogenic cyst. It is predominantly found in young female patients, located more often in maxilla, and in most cases associated with an unerupted permanent tooth. There are three variants of AOT namely follicular, extra follicular, and peripheral. We report an unusual case of extrafollicular AOT in maxilla of a 50-year old male patient. PMID:27942555

  15. Adenomatoid odontogenic tumour mimicking a periapical cyst in pregnant woman.

    PubMed

    Bhandari, Neha; Kothari, Mohit

    2010-06-01

    Adenomatoid odontogenic tumours (AOT) are uncommon odontogenic lesions characterized histologi-cally by duct-like structures derived from the epithelial component of the lesion and can be distinctly classified into follicular, extrafollicular and extraosseous variants (Neville BW, Damm DD, Allen CM, et al. Adenomatoid Odontogenic Tumor. A Text Book for Oral and Maxillofacial Pathology, 2(nd) edition, 621-3). Most of these tumours develop in the second or third decade of life and have a distinct predilection for women. The follicular variant accounts for 75% of reported cases (Curran AE, Miller EJ, Murrah VA. Adenomatoid odontogenic tumor presenting as periapical disease. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997;84:557-60) and is associated with the crown of an impacted tooth, commonly the maxillary canine. We present a rare case of extrafollicular AOT mimicking a periapical cyst that originated in a woman in her first trimester of pregnancy and enlarged rapidly thereafter. The lesion was enucleated and sent for histopathology and immunohistochemistry, which revealed AOT with a cystic component with no dependence on oestrogen or progestrone for its growth. This case of AOT introduces us to the unique variation in its presentation and the difficulty in differentiation from periapical disease of inflammatory origin. Copyright © 2010 Elsevier. Published by Elsevier B.V. All rights reserved.

  16. Flight-related complications are infrequent in patients with hereditary haemorrhagic telangiectasia/pulmonary arteriovenous malformations, despite low oxygen saturations and anaemia.

    PubMed

    Mason, Christopher G; Shovlin, Claire L

    2012-01-01

    Individuals with pulmonary arteriovenous malformations (PAVMs) and hereditary haemorrhagic telangiectasia (HHT) commonly have low oxygen saturations and anaemia, two parameters generally used to indicate medical fitness to fly. Using a retrospective questionnaire-based study, the authors examined in-flight complications and predictors in 145 HHT patients (96 with PAVMs) who reported 3950 flights, totalling 18 943 flight hours. Dyspnoea and thrombotic complications were less common than expected, and could not be predicted from sea level oxygen saturations or haemoglobin concentrations. Nosebleeds that can bar individuals from boarding a flight occurred in 13.6% (11.5% to 15.8%) of long-haul flights. The findings should influence preflight advice.

  17. Prenatal diagnosis, 3-D virtual rendering and lung sparing surgery by ligasure device in a baby with “CCAM and intralobar pulmonary sequestration”

    PubMed Central

    Molinaro, Francesco; Angotti, Rossella; Di Crescenzo, Vincenzo Giuseppe; Cortese, Antonio; Messina, Mario

    2016-01-01

    Abstract Congenital cystic lung lesions are a rare but clinically significant group of anomalies, including congenital cystic adenomatoid malformation (CCAM), pulmonary sequestration, congenital lobar emphysema (CLE) and bronchogenic cysts. Despite the knowledge of these lesions increasing in the last years, some aspects are still debated and controversial. The diagnosis is certainly one aspect which underwent many changes in the last 15 years due to the improvement of antenatal scan and the introduction of 3-D reconstruction techniques. As it is known, a prompt diagnosis has an essential role in the management of these children. The new imaging studies as 3D Volume rendering system are the focus of this paper. We describe our preliminary experience in a case of hybrid lung lesion, which we approached by thoracoscopy after a preoperative study with 3D VR reconstruction. Our final balance is absolutely positive. PMID:28352794

  18. Adenomatoid odontogenic tumor: As an unusual mandibular manifestation

    PubMed Central

    Sharma, Neeraj; Passi, Sidhi; Kumar, Vinay V.

    2012-01-01

    Adenomatoid odontogenic tumor (AOT) is a rare odontogenic tumor which is often misdiagnosed as odontogenic cyst and accounts for about 1% until 9% of all odontogenic tumors. It is predominantly found in young and female patients, located more often in the maxilla in most cases associated with an unerupted permanent tooth. It is a benign (hamartomatous), noninvasive lesion with slow but progressive growth. There are three variants of AOT: follicular, extrafollicular, and peripheral. We report a rare case of follicular-type AOT in the mandible of a 14-year-old male patient who presented with right -sided jaw swelling. PMID:22629062

  19. Cerebral abscess associated with odontogenic bacteremias, hypoxemia, and iron loading in immunocompetent patients with right-to-left shunting through pulmonary arteriovenous malformations.

    PubMed

    Boother, E J; Brownlow, S; Tighe, H C; Bamford, K B; Jackson, J E; Shovlin, C L

    2017-04-19

    Cerebral abscess is a recognised complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored. Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with CT-scan confirmed PAVMs (including 403 (90.5%) with hereditary haemorrhagic telangiectasia) were recruited to a prospective series. Multivariate logistic regression, and detailed peri-abscess histories were evaluated to identify potential associations with cerebral abscess. Rates were compared to an earlier non-overlapping series. Thirty-seven (8.3%) of the 445 patients experienced a cerebral abscesses at median age 50 (range 19-76) years. The rate adjusted for ascertainment bias was 27/435 (6.2%). 29/37 (78.4%) abscess patients had no PAVM diagnosis prior to their abscess, a rate unchanged from earlier UK series. 21/37 (56.7%) suffered residual neurological deficits, most commonly memory/cognition impairment; hemiparesis, and visual defects. Isolation of periodontal microbes, and precipitating dental and other interventional events emphasised potential sources of endovascular inoculations. In multivariate logistic regression, cerebral abscess was associated with low oxygen saturation (indicating greater right-to-left shunting); higher transferrin iron saturation index; intravenous iron use for anemia (adjusted odds ratio 5.4 [95% confidence intervals 1.4, 21.1]); male gender; and venous thromboemboli. There were no relationships with anatomic attributes of PAVMs, or red cell indices often increased due to secondary polycythemia. Greater appreciation of the risk of cerebral abscess in undiagnosed PAVMs is required. Lower SaO2 and intravenous iron may be modifiable risk factors.

  20. [Performance of prenatal diagnosis and postnatal development of congenital lung malformations].

    PubMed

    Desseauve, D; Dugué-Marechaud, M; Maurin, S; Gatibelza, M-È; Vequeau-Goua, V; Mergy-Laurent, M; Levard, G; Pierre, F

    2015-04-01

    For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive

  1. Interlocking Detachable Coil Embolization by Technique of Dumbbell-Shaped Framing and Filling and Bridge Formation Under Balloon Dilatation for Huge Conglomerate Pulmonary Arteriovenous Malformation

    SciTech Connect

    Kawai, Nobuyuki Sato, Morio Minamiguchi, Hiroyuki Nakai, Tomoki Ikoma, Akira Sawa, Munehisa Sahara, Shinya Nakata, Kouhei Tanaka, Takami Takasaka, Isao Sonomura, Tetsuo

    2011-12-15

    A 60-year-old woman presented with a conglomerate pulmonary arteriovenous malformation (PAVM) size 8.2 Multiplication-Sign 7.2 cm on chest X-ray. Feeding arteries were A{sub a}{sup 7} and A{sub b}{sup 7}, A{sup 8}, and A{sup 10}. The diameter and length of the A{sub b}{sup 7} neck were 15.5 and 16 mm, respectively. After percutaneous transcatheter embolization of A{sup 8} and A{sup 10}, PTE of A{sub a}{sup 7} and A{sub b}{sup 7} was conducted under balloon occlusion with interlocking detachable coils using a technique of dumbbell-shaped framing and filling, making a bridge from A{sub b}{sup 7} to the trunk of A{sup 9} and A{sup 10}across A{sup 7}. Follow-up computed tomography 10 months after treatment showed marked shrinkage of the PAVM.

  2. Adenomatoid odontogenic tumor with peripheral cemento-osseous reactive proliferation: report of 2 cases and review of the literature.

    PubMed

    Naidu, Aparna; Slater, Lee J; Hamao-Sakamoto, Aya; Waters, Patrick; Kessler, Harvey P; Wright, John M

    2016-09-01

    Two cases of a rare variant of adenomatoid odontogenic tumor encompassed by a prominent reactive cemento-osseous proliferation are reported. This unique variant of adenomatoid odontogenic tumor has only been seen twice in the authors' collective experience. Literature documenting the histopathologic patterns of adenomatoid odontogenic tumor and the occurrence of other combined lesions other is reviewed and discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Brain Malformations

    MedlinePlus

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  4. Individualized Computer-Based Surgical Planning Addressing Pulmonary Arteriovenous Malformations in Single-Ventricle Patients with Interrupted Inferior Vena Cava and Azygous Continuation

    PubMed Central

    de Zélicourt, Diane A.; Haggerty, Christopher M.; Sundareswaran, Kartik S.; Whited, Brian S.; Rossignac, Jarek R.; Kanter, Kirk R.; Gaynor, J. William; Spray, Thomas L.; Sotiropoulos, Fotis; Fogel, Mark A.; Yoganathan, Ajit P.

    2010-01-01

    BACKGROUND Single-ventricle patients with interrupted inferior vena cava (IVC) can develop pulmonary arterio-venous malformations due to abnormal hepatic flow distribution (HFD). However, preoperatively determining the hepatic baffle design that optimizes HFD is far from trivial. In this study, we combine virtual surgery and numerical simulations to identify potential surgical strategies for patients with interrupted IVC. METHODS Five patients with interrupted IVC and severe PAVMs were enrolled. Their in vivo anatomies were reconstructed from MRI (n=4) and CT (n=1), and alternate virtual-surgery options (intra/extra-cardiac, Y-grafts, hepato-to-azygous and azygous-to-hepatic shunts) were generated for each. HFD was assessed for all options using a fully validated computational flow solver. RESULTS For patients with a single superior vena cava (SVC, n=3), intra/extra-cardiac connections proved dangerous, as even a small left or right offset led to a highly preferential HFD to the associated lung. Best results were obtained with either a Y-graft spanning the Kawashima to split the flow, or hepato-to-azygous shunts to promote mixing. For patients with bilateral SVCs (n=2), results depended on the balance between the left and right superior inflows. When those were equal, connecting the hepatic baffle between the SVCs performed well, but other options should be pursued otherwise. CONCLUSION This study demonstrates how virtual-surgery environments can benefit the clinical community, especially for rare and complex cases such as single-ventricle patients with interrupted IVC. Furthermore, the sensitivity of the optimal baffle design to the superior inflows underscores the need to characterize both pre-operative anatomy and flows to identify the best suited option. PMID:21334010

  5. Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features?☆,☆☆

    PubMed Central

    Feinberg, Adina; Hall, Nigel J.; Williams, Gretchen M.; Schultz, Kris Ann P.; Miniati, Doug; Hill, D. Ashley; Dehner, Louis P.; Messinger, Yoav H.; Langer, Jacob C.

    2016-01-01

    Background The management of congenital cystic lung lesions is controversial. Arguments for routine resection during infancy include the possibility of the lesion being Type I pleuropulmonary blastoma (PPB) rather than a cystic congenital pulmonary airway malformation (CPAM). We aimed to identify clinical and radiological features that might distinguish between CPAM and PPB and to develop a diagnostic algorithm based on these features. Methods All recorded cases of Type I PPB were retrieved from the International PPB Registry and compared with an institutional cohort of children undergoing resection of CPAM (2002–2013) that was noted at some stage to be at least partially cystic. Regression models were created to identify variables that might differentiate CPAM from PPB. Odds ratio (OR) and positive predictive value (PPV) were calculated for each variable and a decision algorithm developed. Results In 112 cases of Type I PPB and 103 of CPAM, factors favoring a diagnosis of CPAM included prenatal detection (OR 89.4), systemic feeding vessel (OR 61.7), asymptomatic (OR 8.0), and hyperinflated lung (OR 6.6). Factors favoring a diagnosis of PPB included bilateral or multisegment involvement (OR 2.4). A decision algorithm that helps to identify lesions requiring resection and those which can be safely observed is presented. Conclusion Clinical and radiological features can help to differentiate between CPAM and PPB. Our algorithm allows identification of children at higher risk of PPB in whom we would recommend resection and those at low risk in whom continued close observation is safe. PMID:26561249

  6. Feasibility of Non-contrast-enhanced MR Angiography Using the Time-SLIP Technique for the Assessment of Pulmonary Arteriovenous Malformation.

    PubMed

    Hamamoto, Kohei; Matsuura, Katsuhiko; Chiba, Emiko; Okochi, Tomohisa; Tanno, Keisuke; Tanaka, Osamu

    2016-07-11

    The purpose of this study was to evaluate the diagnostic performance of non-contrast-enhanced magnetic resonance angiography with time-spatial labeling inversion pulse (time-SLIP MRA) in the assessment of pulmonary arteriovenous malformation (PAVM). Eleven consecutive patients with 38 documented PAVMs underwent time-SLIP MRA with a 3-tesla unit. Eight patients with 25 lesions were examined twice, once before and once after embolotherapy. The lesions were divided into two groups-initial diagnosis (n = 35) and follow-up (n = 28)-corresponding to untreated and treated lesions, respectively, and were evaluated separately. To evaluate the initial diagnosis group, two reviewers assessed image quality for visualization of PAVMs by using a qualitative 4-point scale (1 = not assessable to 4 = excellent). The location and classification of PAVMs were also evaluated. The results were compared with those from digital subtraction angiography. For evaluation of the follow-up group, the reviewers assessed the status of treated PAVMs. Reperfusion and occlusion were defined respectively as visualization or disappearance of the aneurysmal sac. The diagnostic accuracy of time-SLIP MRA was assessed and compared with standard reference images. Interobserver agreement was evaluated with the κ statistic. In the initial diagnosis group, time-SLIP MRA correctly determined the PAVMs in all but one patient with one lesion who had image degradation due to irregular breath. Image quality was considered excellent (median = 4) and the κ coefficient was 0.85. Additionally, both readers could correctly localize and classify the PAVMs on time-SLIP MRA images with both κ coefficient of 1.00. In the follow-up group, the sensitivity and specificity of time-SLIP MRA for reperfusion of PAVMs were both 100%, and the κ coefficient was 1.00. Time-SLIP MRA is technically and clinically feasible and represents a promising technique for noninvasive pre- and post-treatment assessment of PAVMs.

  7. Persistence in Coil-Embolized Pulmonary Arteriovenous Malformations with Feeding Artery Diameters of 3 mm or Less: A Retrospective Single-Center Observational Study.

    PubMed

    Stein, Elliot J; Chittams, Jesse L; Miller, Mary; Trerotola, Scott O

    2017-03-01

    To assess persistence in coil-embolized pulmonary arteriovenous malformations (PAVMs) with feeding artery diameters ≤ 3 mm. Fifty-eight patients (21 male, 37 female; mean age, 43 y; range, 13-71 y) with 141 simple-type PAVMs treated from 2004 to 2014 were analyzed retrospectively. Inclusion criteria were one or more PAVMs with feeding artery diameters ≤ 3 mm ("small PAVMs"), treatment with coil embolization, and presence of a follow-up chest computed tomographic (CT) angiogram at approximately 6 months. Feeding artery diameter, total coil length, and coil nest-to-PAVM sac distance were measured on arteriographic images. Coil packing density was estimated. Persistence was defined as less than 70% reduction in PAVM sac size and was assessed for each PAVM with respect to previous arteriogram or CT angiogram. Each variable was statistically tested for association with persistence. On follow-up CT arteriography, 111 of 141 PAVMs (79%) showed a 70% or greater reduction in size of the sac and were deemed not persistent. The remaining 30 (21%) with unchanged or minimally reduced sac sizes were classified as persistent. Feeding artery diameter, coil size, quantity of coils, shape of coils, coil nest length, compaction, and visible packing density did not affect persistence, but coil nest-to-sac distance was directly correlated with persistence (P < .006). This result held true even with nest-to-sac distances of less than 1 cm. Small PAVMs have a high persistence rate after coil embolotherapy. Most previously described risk factors for PAVM persistence do not seem to apply to these PAVMs, with the exception of coil nest-to-sac distance. Copyright © 2017 SIR. Published by Elsevier Inc. All rights reserved.

  8. Adenomatoid hyperplasia of the minor salivary glands on the buccal mucosa: A rare case report.

    PubMed

    Dereci, Omür; Cimen, Emre

    2014-01-01

    Adenomatoid hyperplasia of the minor salivary glands is a hyperplastic oral lesion which may be seen on minor salivary gland bearing areas on all oral mucosa, especially on soft and hard palate. This study reports a rare case of buccal adenomatoid hyperplasia of the minor salivary glands and discusses the clinical significance. 48 year old male patient presented with a complaint of a swelling on his left cheek. Clinical examination revealed a bluish mass on the buccal mucosa. A provisional diagnosis of salivary gland neoplasm was made and the lesion was excised under local anesthesia. The histological diagnosis was adenomatoid hyperplasia of the minor salivary glands. Buccal localization of the adenomatoid hyperplasia of the minor salivary glands is quite uncommon in the literature. There are two cases in the English literature for our knowledge. In the clinical examination, the nodular and protuberated appearance of the lesion resembles buccal minor salivary gland tumors and vascular lesions. Histological analysis is fundamental to achieve correct diagnosis. The differential diagnosis of buccal nodular, exophytic and colored mucosal lesions should include adenomatoid hyperplasia of the minor salivary glands. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  9. Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case

    PubMed Central

    Datt, Vishnu; Tempe, D. K.; Lalwani, Parin; Aggarwal, Saket; Kumar, Pradeep; Diwakar, Anitha; Tomar, A. S.

    2015-01-01

    Perioperative management of a patient with Dandy–Walker malformation (DWM) with tetralogy of Fallot (TOF), patent ductus arteriosus, and pulmonary artery stenosis is a great challenge to the anesthesiologist. Anesthetic management in such patients can trigger tet spells that might rapidly increase intracranial pressure (ICP), conning and even death. The increase in ICP can precipitate tet spells and further brain hypoxia. To avoid an increase in ICP during TOF corrective surgery ventriculo-peritoneal (VP) shunt should be performed before cardiac surgery. We present the first case report of a 11-month-old male baby afflicted with DWM and TOF who underwent successful TOF total corrective surgery and fresh autologous pericardial pulmonary valve conduit implantation under cardiopulmonary bypass after 1 week of VP shunt insertion. PMID:26139758

  10. Mural Adenomatoid Odontogenic Tumour as Anterior Mandibular Swelling: A Diagnostic Challenge

    PubMed Central

    Sarkar, Reena Bhola; Grewal, Jessica; Grewal, Ripin; Bansal, Arun

    2014-01-01

    Adenomatoid odontogenic tumour is an uncommon, benign, hamartomatous lesion that commonly affects the anterior maxilla and has two radiographic variants, follicular and extrafollicular where the former is more common than the latter. Here, we report a case of 15-year-old female with midline swelling of the mandible. Radiographically, impacted right permanent mandibular canine was associated with the radiolucent lesion. Dentigerous cyst was given as provisional diagnosis. However, histologically the lesion represented the features of cystic variant of Adenomatoid odontogenic tumour. PMID:25121073

  11. Physiologic determinants of exercise capacity in patients with different types of right-sided regurgitant lesions: Ebstein's malformation with tricuspid regurgitation and repaired tetralogy of Fallot with pulmonary regurgitation.

    PubMed

    Chen, S S M; Dimopoulos, K; Sheehan, F H; Gatzoulis, M A; Kilner, P J

    2016-02-15

    Exercise capacity relates to right ventricular (RV) volume overload in congenital heart disease and may improve after surgery. We herewith investigate the relation between exercise capacity, cardiac index, and RV volume overload due to tricuspid regurgitation (TR) in Ebstein's malformation and pulmonary regurgitation (PR) after repair of tetralogy of Fallot (rToF). We measured cardiac index and tricuspid/pulmonary regurgitant fraction by cardiovascular magnetic resonance in patients with Ebstein's malformation (n = 40) or rTOF (n = 53) with at least moderate TR/PR and 24 healthy controls. Exercise tolerance was determined by peak oxygen consumption (peak VO2) during cardiopulmonary exercise testing. TR and PR fraction were similar in Ebstein and rTOF patients (43 ± 17% versus 39 ± 12%, respectively). Cardiac index was reduced in Ebstein (2.7 ± 0.6L/min/m(2) compared to controls 3.5 ± 0.9L/min/m(2), p < 0.001) but not in rToF patients (3.2 ± 0.5L/min/m(2)). Multiple regression analysis revealed a significant correlation between peak VO2 and cardiac index in Ebstein. Furthermore, peak VO2 correlated with peak heart rate in both groups but not with regurgitation fraction. Despite comparable amounts of regurgitation from a right sided heart valve in patients with Ebstein and rToF, reduction of cardiac index was observed only in the former group. Greater physiologic complexity and adverse ventricular interaction with chronotropic incompetence in Ebstein's malformation may account for this. Crown Copyright © 2015. Published by Elsevier Ireland Ltd. All rights reserved.

  12. Glomuvenous malformations.

    PubMed

    Henning, J Scott; Kovich, Olympia I; Schaffer, Julie V

    2007-01-27

    A 9-year-old girl presented with a congenital, blue-purple, partially compressible plaque with a cobblestone surface on the left lateral foot and ankle. Similar, solitary, blue nodules later appeared elsewhere on the extremities. The lesions were tender to palpation and were associated with spontaneous paroxysms of pain and paresthesias. Histopathologic evaluation of a skin biopsy specimen showed rows of glomus cells that surrounded thin-walled vascular channels, which confirmed the diagnosis of glomuvenous malformations. This autosomal dominant condition, which is due to mutations in the GLMN gene, presents with clinical findings that are distinct from those of familial, multiple, cutaneous and mucosal venous malformations. Treatment options include excision, sclerotherapy, and laser therapy (ablative or pulsed dye).

  13. Bilateral respiratory epithelial adenomatoid hamartomas originating from the anterior olfactory clefts

    PubMed Central

    Falco, Jeffrey J.; Peine, Brandon S.

    2017-01-01

    A respiratory epithelial adenomatoid hamartoma (REAH) is an uncommon benign lesion often found in the sinonasal tract. We present a case of bilateral REAH originating from the anterior olfactory cleft treated with endoscopic surgical resection without recurrence. We highlight the characteristics of REAH and necessary steps to ensure proper diagnosis and treatment. PMID:28405090

  14. A Rare Case of Extrafollicular Adenomatoid Odontogenic Tumour in the Posterior Region of the Mandible: Misdiagnosed as Residual Cyst

    PubMed Central

    Shivali, Vaid; Pandey, Anil; Khanna, Vidhi D; Khanna, Prateek; Singh, Ashish; Ahuja, Tarun

    2013-01-01

    Adenomatoid odontogenic tumor is a relatively uncommon distinct odontogenic neoplasm. It is an uncommon tumor of odontogenic origin with varying number of ductlike structures and inductive changes in the stroma. It is a benign and slow growing epithelial tumor and represents 3% of all odontogenic tumors. Its occurrence is more common in anterior region of the maxilla than mandible. Most of the adenomatoid odontogenic tumors occur intra-osseously but few peripheral variant have been reported which are attached to the gingival structures. The intra-osseous Adenomatoid odontogenic tumor may be related to unerrupted tooth (follicular varient) or may not (extrafollicular varient) be related to unerrupted tooth. This paper is to present a rare case of an extrafollicular Adenomatoid odontogenic tumor occurring in the body of the mandible in a male patient which is distinct and secondly it was clinically and radiographically diagnosed as residual cyst. The diagnosis of Adenomatoid odontogenic tumor was confirmed by Histopathological investigation. How to cite this article: Shivali V, Khanna VD, Khanna P, Singh A, Pandey A, Ahuja T. A Rare Case of Extrafollicular Adenomatoid Odontogenic Tumour in the Posterior Region of the Mandible: Misdiagnosed as Residual Cyst. J Int Oral Health 2013; 5(5):124-8. PMID:24324316

  15. Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

    PubMed

    Letteboer, Tom G W; Benzinou, Michael; Merrick, Christopher B; Quigley, David A; Zhau, Kechen; Kim, Il-Jin; To, Minh D; Jablons, David M; van Amstel, Johannes K P; Westermann, Cornelius J J; Giraud, Sophie; Dupuis-Girod, Sophie; Lesca, Gaetan; Berg, Jonathan H; Balmain, Allan; Akhurst, Rosemary J

    2015-01-01

    HHT shows clinical variability within and between families. Organ site and prevalence of arteriovenous malformations (AVMs) depend on the HHT causative gene and on environmental and genetic modifiers. We tested whether variation in the functional ENG allele, inherited from the unaffected parent, alters risk for pulmonary AVM in HHT1 mutation carriers who are ENG haploinsufficient. Genetic association was found between rs10987746 of the wild type ENG allele and presence of pulmonary AVM [relative risk = 1.3 (1.0018-1.7424)]. The rs10987746-C at-risk allele associated with lower expression of ENG RNA in a panel of human lymphoblastoid cell lines (P = 0.004). Moreover, in angiogenically active human lung adenocarcinoma tissue, but not in uninvolved quiescent lung, rs10987746-C was correlated with expression of PTPN14 (P = 0.004), another modifier of HHT. Quantitative TAQMAN expression analysis in a panel of normal lung tissues from 69 genetically heterogeneous inter-specific backcross mice, demonstrated strong correlation between expression levels of Eng, Acvrl1, and Ptpn14 (r2 = 0.75-0.9, P < 1 × 10(-12)), further suggesting a direct or indirect interaction between these three genes in lung in vivo. Our data indicate that genetic variation within the single functional ENG gene influences quantitative and/or qualitative differences in ENG expression that contribute to risk of pulmonary AVM in HHT1, and provide correlative support for PTPN14 involvement in endoglin/ALK1 lung biology in vivo. PTPN14 has been shown to be a negative regulator of Yap/Taz signaling, which is implicated in mechanotransduction, providing a possible molecular link between endoglin/ALK1 signaling and mechanical stress. EMILIN2, which showed suggestive genetic association with pulmonary AVM, is also reported to interact with Taz in angiogenesis. Elucidation of the molecular mechanisms regulating these interactions in endothelial cells may ultimately provide more rational choices for HHT therapy.

  16. Perpetual dilemma: Pleural or parenchymal/congenital or acquired solitary cystic lesion with fluid level.

    PubMed

    Talwar, Deepak; Jha, Onkar; Sharma, Rahul Kumar; Saxena, Rajat

    2017-01-01

    Congenital cystic adenomatoid malformations (CCAMs) are rare congenital, nonhereditary developmental anomalies of the lung with unknown etiology. CCAM is predominantly a disorder of infancy with the majority of the cases being diagnosed within the first 2 years of life. When CCAM presents in adults, it represents a diagnostic dilemma and requires careful evaluation. We here report a case of large solitary congenital pulmonary cystic adenomatoid malformation with infection and hemorrhage, which was diagnosed as encysted hydropneumothorax on computerized tomography scans but turned out to be infected pulmonary cystic adenomatoid malformation after surgical excision.

  17. Perpetual dilemma: Pleural or parenchymal/congenital or acquired solitary cystic lesion with fluid level

    PubMed Central

    Talwar, Deepak; Jha, Onkar; Sharma, Rahul Kumar; Saxena, Rajat

    2017-01-01

    Congenital cystic adenomatoid malformations (CCAMs) are rare congenital, nonhereditary developmental anomalies of the lung with unknown etiology. CCAM is predominantly a disorder of infancy with the majority of the cases being diagnosed within the first 2 years of life. When CCAM presents in adults, it represents a diagnostic dilemma and requires careful evaluation. We here report a case of large solitary congenital pulmonary cystic adenomatoid malformation with infection and hemorrhage, which was diagnosed as encysted hydropneumothorax on computerized tomography scans but turned out to be infected pulmonary cystic adenomatoid malformation after surgical excision. PMID:28144070

  18. Adenomatoid Tumor of the Tunica Albuginea in a Boy: A Case Report and Literature Review.

    PubMed

    Guo, Kaimin; Tian, Runhui; Liu, Lingyun; Du, Congqi; Li, Fubiao; Wang, Hongliang

    2015-01-01

    Adenomatoid tumors (AT) are the most common paratesticular neoplasms and account for approximately 30% of all paratesticular masses. Most of them occur in the third or fourth decade and present as well-defined firm and painless masses. We report here a case of adenomatoid tumor from tunica albuginea. This patient is a 12-year-old boy with left testicular pain for 6 months. Scrotal ultrasonography revealed a solid mass of paratesticular origin. The histology and immunohistochemistry confirmed the final diagnosis. A right tumor resection was performed. Because of its rarity, the clinical and histopathologic appearance is seldom illustrated. Here we present a case report and a comprehensive literature review with the objective of providing useful information on this entity.

  19. Surgical management of peripheral variant of adenomatoid odontogenic tumor: A rare case report with review

    PubMed Central

    Jindwani, Karuna; Paharia, Y. K.; Kushwah, Atul Pratap Singh

    2015-01-01

    The adenomatoid odontogenic tumour (AOT) is a relatively uncommon lesion constituting around 3% of all odontogenic tumours and often misdiagnosed as an odontogenic cyst. It manifests as a beningn growth which affects young individuals, with a female predeliction usually in the second decade of life, exhibiting more often in the anterior region of maxilla. The current article enumerates the clinical, radiographic and histopathological features of a rare case of extraosseous AOT with its therapeutic consideration PMID:25684929

  20. Dentigerous Cyst or Adenomatoid Odontogenic Tumor: Clinical Radiological and Histopathological Dilemma

    PubMed Central

    Acharya, Shivesh; Goyal, Ashima; Rattan, Vidya; Vaiphei, Kim; Kaur Bhatia, Sarabjot

    2014-01-01

    Adenomatoid odontogenic tumor (AOT) is a well-recognised slow growing benign tumor derived from complex system of dental lamina or its remnants. This lesion is categorised into three variants of which the more common variant is follicular type which is often mistaken for dentigerous cyst. We present a case of AOT in a 14-year-old male who was misdiagnosed as dentigerous cyst. Clinical radiological and therapeutic characteristics of the case are commented on in detail. PMID:25097553

  1. Adenomatoid mesothelioma with intranuclear inclusion bodies: a case report with cytological and histological findings.

    PubMed

    Kawai, Toshiaki; Kawashima, Katsuhiko; Serizawa, Hiromi; Miura, Hiroyuki; Kyeongil, Kim

    2014-05-01

    We report a very unusual cytologic feature, intranuclear inclusion bodies, in mesothelioma of a predominantly adenomatoid type. The patient, a 57-year-old woman, was presented with dyspnea and right pleural effusion. Pleural aspiration cytology revealed many cohesive ball-like clusters, with a tubular pattern, composed of small atypical cells displaying a high-nuclear-cytoplasmic ratio. They had a nuclear groove and irregular intranuclear inclusion bodies. Right lung partial resection with thoracoscopy revealed that a white tumor had proliferated along the pleural surface at S(8) . Histology revealed nodular tumor cells forming dilated structures mixed with small tubular or glandular structures similar to those seen in benign adenomatoid tumors. These tumor cells had invaded peripheral lung tissues. Such inclusion bodies have not been reported earlier in mesothelioma. On the basis of this observation, we propose that the adenomatoid type of malignant mesothelioma be added to the differential diagnosis of malignant effusions when tumor cells with nuclear grooves and intranuclear inclusions are found in pleural aspiration cytology. Copyright © 2012 Wiley Periodicals, Inc., a Wiley company.

  2. Simultaneous adenomatoid odontogenic and keratocystic odontogenic tumours in a patient with Gorlin-Goltz syndrome.

    PubMed

    Shephard, M; Shepard, M; Coleman, H

    2014-03-01

    Gorlin and Goltz described a syndrome in which multiple basal cell carcinomas, odontogenic keratocysts and bifid ribs occurred in combination. The jaw keratocysts are a consistent feature of 'Gorlin-Goltz' or naevoid basal cell carcinoma syndrome. Central nervous system and ocular involvement occurred together with the fairly typical facial features of frontal bossing and hypertelorism. This case report documents the pathology associated with an impacted maxillary canine tooth in a boy with Gorlin-Goltz syndrome. The patient presented for investigation of the failure of eruption of the right permanent maxillary canine tooth. Radiographic investigation showed the presence of a well circumscribed radiolucency located around the crown of an impacted right maxillary canine tooth. The patient's medical history revealed a medulloblastoma that was treated 13 years ago. The right maxillary canine tooth and associated peri-coronal tissue were removed under general anaesthetic. A diagnosis of a keratocystic odontogenic tumour with an associated adenomatoid odontogenic tumour was made. The common differential diagnoses for a peri-coronal radiolucency in the maxilla that need to be considered by dentists include a dentigerous cyst, follicular keratocystic odontogenic tumour and adenomatoid odontogenic tumour. A rare case of both keratocystic odontogenic tumour and associated follicular adenomatoid odontogenic tumour is described in a patient with naevoid basal cell carcinoma syndrome.

  3. [Clinical analysis of 14 cases with nasal respiratory enithelial adenomatoid hamartom].

    PubMed

    Tai, Xuhui; Luo, Xiubo; Zi, Long; Zhu, Baoyu; Jia, Jianping; Yang, Xin; Sang, Yuehong

    2014-12-01

    To describe and analyze the clinical features of nasal respiratory epithelial adenomatoid hamartom and improve the levels of diagnosis and treatment. Fourteen cases of nasal respiratory epithelial adenomatoid hamartom confirmed by pathology were collected and analyzed. In 14 cases, primary complaint of Hyposmia(or Anosmia)and nasal obstruction were occured in 13 and 11 cases respectively. Four cases had past history of endoscopic sinus surgery because of the diagnosis of nasal polyps. Polypoid neoplasms could be seen in the bilateral olfactory clefts. Sinus CT showed soft tissue shadows in bilateral nasal cavity and mucous membrane thickening in different sinus. Endoscopic sinus surgery were utilized to eliminate focus in all cases. All cases weren t recurred after 2-20 months' following-up visitings. Nasal respiratory epithelial adenomatoid hamartom is so rare that clinical and pathological doctors have limited knowledge of it. It has its own characteristics from the clinical symptoms, signs to sinus CT although they are nonspecific. So we should improve the understanding about it to avoid misdiagnosis or missed diagnosis.

  4. Anorectal malformations

    PubMed Central

    Levitt, Marc A; Peña, Alberto

    2007-01-01

    Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life. PMID:17651510

  5. Cerebral Cavernous Malformation

    MedlinePlus

    ... cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood ... cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood ...

  6. Prenatal presentation and postnatal management of congenital thoracic malformations.

    PubMed

    Bush, Andrew

    2009-11-01

    The antenatal finding of a congenital thoracic malformation (CTM) leads to anxiety in the parents and uncertainty as to the optimal management. The antenatal spectrum of CTM includes congenital cystic adenomatoid malformation, sequestration, congenital lobar emphysema, enteric and bronchogenic cysts, and bronchial atresia. Most lesions require no antenatal intervention, and shrink substantially in the third trimester, but if fetal hydrops develops, then antenatal intervention is required, occasionally medical but more usually surgical, because mortality is high. If the baby is symptomatic in the newborn period, then some form of surgical intervention is clearly required. The asymptomatic baby presents a therapeutic dilemma. Advocates of early surgery point to the complications of CTM, which include infection, pneumothorax, bleeding and malignant transformation. Those who are proponents of conservative management retort that some CTM disappear postnatally, and that the complication rate is unknown; many children appear never to need surgery. Furthermore, there is clearcut evidence that excision of a CTM does not totally eliminate the risk of a subsequent malignancy. It is clear that, both antenatally and postnatally, counselling of the family on a case by case basis is needed. The limitations of present evidence should be stressed. Different families will make different decisions about postnatal surgery in an asymptomatic baby. If surgery is performed, morbidity is low, particularly with a video-assisted thoracoscopic (VATS) procedure.

  7. Adenomatoid Tumor of the Adrenal Gland in Young Woman: From Clinical and Radiological to Pathological Study

    PubMed Central

    Mishevska, Sasha Jovanovska; Jovanovic, Rubens

    2016-01-01

    Adenomatoid tumors are neoplasms of mesothelial origin, usually occurring in the male and female genital tracts. Extragenital localization sites such as adrenal glands are rare but have been reported. When found in the adrenals, they represent great clinical, radiological and pathological diagnostic challenge, with wide range of differential diagnoses to be considered. We present a case of a 30 years old female, with incidental ultrasound finding of unilateral tumor in the right adrenal gland. Multi slices CT scan was of value in localizing this tumor, but not in the precise diagnosis. The tumor ranged from 5.6 cm to 6.4 cm in greatest diameter. Clinical and hormonal examinations excluded Sy. Cushing, M. Conn and pheochromocytoma. The patient underwent laparoscopic right adrenalectomy. A large tumor (d: 8 × 7 × 3 cm) was removed showing no infiltration of the adrenal cortex or medulla, or extra-adrenal extension into the periadrenal adipose tissue. Histological examination showed numerous cystic spaces lined by flattened cubical epithelial cells. The small cystic spaces were separated by edematous fibrovascular stroma with rare epithelial cells with vacuolated cytoplasm. Immunohistochemical staining was positive with vimentin (+), S100 (+), MCA mesothelial Ag (+), CD 68 (+) and negative with acitin (-), CK7 (-), CD3 (-). Adenomatoid tumor is a rare benign neoplasm that should be added in the differential diagnosis of any adrenal tumor occurring in adrenal gland. The histological and immunohistochemical profiles of this adrenal adenomatoid tumor are very supportive in reaching the diagnosis of this benign tumor of a mesothelial cell origin, helping to avoid invasive treatment. PMID:28058099

  8. Adenomatoid odontogenic tumor associated with odontoma: a case report and critical review of the literature.

    PubMed

    Gomez, Ricardo Santiago; Castro, Wagner Henriques; Gomes, Carolina Cavaliéri; Loyola, Adriano Mota

    2013-08-09

    We describe a case of adenomatoid odontogenic tumor (AOT) associated with odontoma occurring in the posterior mandible of a 32-year-old man. Although calcifications are commonly found in the AOT, the presence of rudimentary dental structures is a very rare phenomenon. Cases with similar aspects have been described as ameloblastic dentinoma, ameloblastic odontoma, adenoameloblastic odontoma and AOT associated with odontoma. After a careful analysis of the literature we describe the clinical aspects of this tumor. Further case reports and surveys of odontogenic tumors are necessary to define whether AOT associated with odontoma is a variant of AOT or a distinct clinicopathologic condition.

  9. Adenomatoid odontogenic tumor associated with an unerupted mandibular lateral incisor: a case report

    PubMed Central

    2015-01-01

    Adenomatoid odontogenic tumor (AOT) is a rare, benign odontogenic tumor that predominantly appears in the second decade of life in female patients. Most AOTs occur in the anterior part of the maxilla and are usually associated with impacted anterior teeth. There are three types of AOT, follicular, extrafollicular, and peripheral, which are classified based on the location of the lesion and its association with the impacted tooth. We report a rare case of AOT associated with an impacted right mandibular lateral incisor in an 11-year-old female patient. PMID:26734563

  10. Vascular Malformations: A Review

    PubMed Central

    Cox, Joshua A.; Bartlett, Erica; Lee, Edward I.

    2014-01-01

    Identification and treatment of vascular malformations is a challenging endeavor for physicians, especially given the great concern and anxiety created for patients and their families. The goal of this article is to provide a review of vascular malformations, organized by subtype, including capillary, venous, lymphatic and arteriovenous malformations. Only by developing a clear understanding of the clinical aspects, diagnostic tools, imaging modalities, and options for intervention will appropriate care be provided and results maximized. PMID:25045330

  11. Arterial Oxygen Content Is Precisely Maintained by Graded Erythrocytotic Responses in Settings of High/Normal Serum Iron Levels, and Predicts Exercise Capacity: An Observational Study of Hypoxaemic Patients with Pulmonary Arteriovenous Malformations

    PubMed Central

    Santhirapala, Vatshalan; Williams, Louisa C.; Tighe, Hannah C.; Jackson, James E.; Shovlin, Claire L.

    2014-01-01

    Background Oxygen, haemoglobin and cardiac output are integrated components of oxygen transport: each gram of haemoglobin transports 1.34 mls of oxygen in the blood. Low arterial partial pressure of oxygen (PaO2), and haemoglobin saturation (SaO2), are the indices used in clinical assessments, and usually result from low inspired oxygen concentrations, or alveolar/airways disease. Our objective was to examine low blood oxygen/haemoglobin relationships in chronically compensated states without concurrent hypoxic pulmonary vasoreactivity. Methodology 165 consecutive unselected patients with pulmonary arteriovenous malformations were studied, in 98 cases, pre/post embolisation treatment. 159 (96%) had hereditary haemorrhagic telangiectasia. Arterial oxygen content was calculated by SaO2 x haemoglobin x 1.34/100. Principal Findings There was wide variation in SaO2 on air (78.5–99, median 95)% but due to secondary erythrocytosis and resultant polycythaemia, SaO2 explained only 0.1% of the variance in arterial oxygen content per unit blood volume. Secondary erythrocytosis was achievable with low iron stores, but only if serum iron was high-normal: Low serum iron levels were associated with reduced haemoglobin per erythrocyte, and overall arterial oxygen content was lower in iron deficient patients (median 16.0 [IQR 14.9, 17.4]mls/dL compared to 18.8 [IQR 17.4, 20.1]mls/dL, p<0.0001). Exercise tolerance appeared unrelated to SaO2 but was significantly worse in patients with lower oxygen content (p<0.0001). A pre-defined athletic group had higher Hb:SaO2 and serum iron:ferritin ratios than non-athletes with normal exercise capacity. PAVM embolisation increased SaO2, but arterial oxygen content was precisely restored by a subsequent fall in haemoglobin: 86 (87.8%) patients reported no change in exercise tolerance at post-embolisation follow-up. Significance Haemoglobin and oxygen measurements in isolation do not indicate the more physiologically relevant oxygen content

  12. A case of prenatally diagnosed extrapulmonary arteriovenous malformation associated with a complex heart defect

    PubMed Central

    Jeong, Ba-Da; An, Suah; Kim, Ji Yeon; Lee, Mi-Young; Kim, Eun Na; Kim, Jung-Sun; Kim, Chong Jai

    2016-01-01

    Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21.0 weeks of gestation and confirmed by postmortem autopsy. PMID:27896260

  13. Pulmonary congenital cystic disease in adults. Spiral computed tomography findings with pathologic correlation and management.

    PubMed

    Scialpi, M; Cappabianca, S; Rotondo, A; Scalera, G B; Barberini, F; Cagini, L; Donato, S; Brunese, L; Piscioli, I; Lupattelli, L

    2010-06-01

    The aim of this study was to assess the computed tomography (CT) features of intrapulmonary congenital cystic diseases in adults and to correlate the imaging features with the pathological findings, with emphasis on the oncogenic potential of the lesions. We retrospectively reviewed the CT scans in three institutions from August 1996 to December 2008, of nine patients (six men, three women; mean age 48.6 years; range 26-75 years) who had histological diagnosis of pulmonary cystic disease after surgery. Six patients had a diagnosis of intrapulmonary bronchogenic cyst (IBC), and three had a type-I cystic adenomatoid malformation (CAM). In one case, intralobar sequestration (ILS) was associated with type-I CAM. Three patients were symptomatic and six were asymptomatic. On CT scans, IBCs showed homogeneous fluid attenuation (n=2), air-fluid level (n=2), air attenuation (n=1) or soft-tissue attenuation (n=1). The surrounding lung tissue showed areas of band-like linear attenuation in three IBCs, atelectasia in two and mucocele-like areas in one. On CT, type-I CAM appeared as a unilocular cystic lesion with air-fluid level (n=1) or air content (n=1). Both cases had thin walls surrounded by normal lung parenchyma. ILS appeared as a fluid-filled cyst with afferent and efferent vessels. Of the six IBCs, one occurred in the upper right lobe, two in the middle lobe and three in the lower right lobe. Of the three type-I CAMs, one was in the upper left lobe and one in the middle lobe. The type-I CAM associated with ILS was located in the left lower lobe. The similar CT patterns preclude differentiation between IBC and type-I CAM. Surgical resection of all intrapulmonary cystic lesions detected in adults is mandatory because type-I CAM is a precursor of mucinous bronchioloalveolar carcinoma.

  14. 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.

  15. Case Presentation of Concomitant and Contiguous Adenomatoid Odontogenic Tumor and Focal Cemento-Ossifying Dysplasia.

    PubMed

    Rezvani, Gita; Donoghue, Mandana; Reichart, Peter A; Pazuhi, Neda

    2015-01-01

    A 24 year-old male was presented for the diagnosis of an asymptomatic bony expansion in relation to the right maxillary canine and first premolar. The unilocular radiolucent lesion with central foci of calcification had caused divergence of canine and first premolar roots without any resorption. This case report details a diagnosis of two distinct disease processes of different cellular origin namely, focal cemento-ossifying dysplasia and adenomatoid odontogenic tumor in a previously unreported concomitant and contiguous relationship. The diagnosis was determined by a combination of clinical, radiographic, histopathological and surgical evidence. This case highlights two points, first the need to examine all mixed radiolucent-radiopaque lesions with advanced imaging techniques to assess the number and extent of the lesions prior to treatment planning. Second a likely role of periodontal ligament as the tissue source for odontogenic epithelial cells and mesenchymal stem cells required for the development of odontogenic tumors and cemento-osseous dysplasias.

  16. Case Presentation of Concomitant and Contiguous Adenomatoid Odontogenic Tumor and Focal Cemento-Ossifying Dysplasia

    PubMed Central

    Rezvani, Gita; Donoghue, Mandana; Reichart, Peter A; Pazuhi, Neda

    2015-01-01

    A 24 year-old male was presented for the diagnosis of an asymptomatic bony expansion in relation to the right maxillary canine and first premolar. The unilocular radiolucent lesion with central foci of calcification had caused divergence of canine and first premolar roots without any resorption. This case report details a diagnosis of two distinct disease processes of different cellular origin namely, focal cemento-ossifying dysplasia and adenomatoid odontogenic tumor in a previously unreported concomitant and contiguous relationship. The diagnosis was determined by a combination of clinical, radiographic, histopathological and surgical evidence. This case highlights two points, first the need to examine all mixed radiolucent-radiopaque lesions with advanced imaging techniques to assess the number and extent of the lesions prior to treatment planning. Second a likely role of periodontal ligament as the tissue source for odontogenic epithelial cells and mesenchymal stem cells required for the development of odontogenic tumors and cemento-osseous dysplasias. PMID:26464605

  17. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures.

  18. Congenital Vascular Malformation

    MedlinePlus

    ... reason these artery- to-vein connections, or a cluster of them persist. Such connections are called arteriovenous fistulas (AVFs), or if there is a cluster of them they are called arteriovenous malformations (AVMs). ...

  19. Cerebral Cavernous Malformations (CCM)

    MedlinePlus

    ... Contact Registry Interest Form Contact Us | Login Disorder Definitions Learn More > Disorder Definitions Cerebral Cavernous Malformations (CCM) ... until it is too late to salvage vision. Routine screening is very important, even if there are ...

  20. Pelvic Vascular Malformations

    PubMed Central

    Christenson, Brian M.; Gipson, Matthew G.; Smith, Mitchell T.

    2013-01-01

    Vascular malformations (VMs) comprise a wide spectrum of lesions that are classified by content and flow characteristics. These lesions, occurring in both focal and diffuse forms, can involve any organ and tissue plane and can cause significant morbidity in both children and adults. Since treatment strategy depends on the type of malformation, correct diagnosis and classification of a vascular lesion are crucial. Slow-flow VMs (venous and lymphatic malformations) are often treated by sclerotherapy, whereas fast-flow lesions (arteriovenous malformations) are generally managed with embolization. In addition, some cases of VMs are best treated surgically. This review will present an overview of VMs in the female pelvis as well as a discussion of endovascular therapeutic techniques. PMID:24436563

  1. Concomitant occurrence of cemento-ossifying fibroma and adenomatoid odontogenic tumor with bilateral impacted permanent canines in the mandible.

    PubMed

    Prakash, A Ravi; Reddy, P Sreenivas; Bavle, Radhika M

    2012-01-01

    Adenomatoid odontogenic tumor (AOT) is an uncommon, benign and slow growing odontogenic tumor, which is usually located in an anterior region of the maxilla without pain. Cemento-ossifying fibroma (COF) is a relatively rare benign tumor of the jaw. Here we present 2 lesions presenting in unusual forms, follicular variant of AOT in the mandible and COF associated with impacted canine in the mandible, occurring concomitantly in the same patient. Both lesions presented classic histopathologic features.

  2. Extensive Adenomatoid Odontogenic Tumor of the Maxilla: A Case Report of Conservative Surgical Excision and Orthodontic Alignment of Impacted Canine.

    PubMed

    Moon, Jee-Won

    2014-07-01

    The present report describe the surgical therapy, clinical course, orthodontic treatment and morphological characteristics of an adenomatoid odontogenic tumor in the maxilla of an 11-year-old patient. The cystic tumor filled the maxillary sinus and involved a tooth. Marsupialization was accompanied by partial enucleation and applied traction to the affected tooth by a fixed orthodontic appliance. Healing was uneventful and no local recurrence was observed during a 1-year period of follow-up control.

  3. Unilateral pulmonary agenesis.

    PubMed

    Malcon, Maura Cavada; Malcon, Claudio Mattar; Cavada, Marina Neves; Caruso, Paulo Eduardo Macedo; Real, Lara Flório

    2012-01-01

    Pulmonary agenesis is a rare congenital anomaly. We report the case of an 8-year-old boy with left lung agenesis, without any other congenital malformations. When the patient presented symptoms, including cough, wheezing, and dyspnea, with no clinical improvement after a period of 30 days, imaging studies were conducted and the diagnosis was made.

  4. Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.

    PubMed

    Vercellino, N; Nozza, P; Oddone, M; Bava, G L

    2006-07-01

    Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed.

  5. A case of left main pulmonary artery aneurysm associated with valvular pulmonary stenosis in a child.

    PubMed

    Lee, Ran; Son, Jae Sung; Park, Yong Mean

    2011-10-01

    Aneurysm of the main pulmonary artery is a rare clinical entity that can be congenital or acquired. Most cases occur in association with other congenital malformations, severe pulmonary hypertension, vasculitides, infectious agents, or collagen vascular disorders. We report here a pediatric case of left pulmonary artery aneurysm associated with valvular pulmonary stenosis and a hypoplastic right pulmonary artery, which we confirmed via multidetector computed tomography angiography.

  6. Pulmonary hypertension

    MedlinePlus

    Pulmonary arterial hypertension; Sporadic primary pulmonary hypertension; Familial primary pulmonary hypertension; Idiopathic pulmonary arterial hypertension; Primary pulmonary hypertension; PPH; Secondary pulmonary ...

  7. [Multiple intracranial arteriovenous malformation].

    PubMed

    Gelabert-González, Miguel; Santin-Amo, José María; Román-Pena, Paula; Vázquez Herrero, Fernando

    2015-01-01

    Multiple cerebral arteriovenous malformations (AVMs) are thought to be exceedingly rare lesions and have usually been reported as single cases. The incidence of multiple cerebral AVMs in major series ranges from 0.3% to 9% and, in the majority of cases, these malformations are associated with other vascular anomalies of the brain or soft tissues. We report a 62-year-old woman that presented with a left temporal haemorrhage. Angiography showed 3 AVMs located in the left temporal lobe, left cerebellar hemisphere and right temporal lobe. The lesions were treated with radiosurgery.

  8. Rare malformation of glans penis: arteriovenous malformation.

    PubMed

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  9. Intrapulmonary arteriovenous malformation causing recurrent strokes

    PubMed Central

    Abed, Kareem; Premachandra, Lalith; Vankawala, Viren; Sun, Qi

    2015-01-01

    This case reveals a left pulmonary arteriovenous malformation (PAVM) as a cause of recurrent cerebral and cerebellar emboli. Extensive workup excluded other etiologies of emboli formation, and the patient was transferred to a tertiary care center for percutaneous embolotherapy. In the absence of a clear etiology, PAVM should be considered as a potential cause of recurrent cerebral emboli, especially in the absence of carotid disease, intracardiac thrombus, atrial septal defect, and patent foramen ovale. Diagnostic work-up for the PAVM can be cost effective and expedited by utilization of agitated saline contrast echocardiography, as noted in our case. PMID:26486114

  10. Current Concepts and Occurrence of Epithelial Odontogenic Tumors: I. Ameloblastoma and Adenomatoid Odontogenic Tumor

    PubMed Central

    Kim, Yeon Sook

    2013-01-01

    Ameloblastomas and adenomatoid odontogenic tumors (AOTs) are common epithelial tumors of odontogenic origin. Ameloblastomas are clinico-pathologically classified into solid/multicystic, unicystic, desmoplastic, and peripheral types, and also divided into follicular, plexiform, acanthomatous, granular types, etc., based on their histological features. Craniopharyngiomas, derived from the remnants of Rathke's pouch or a misplaced enamel organ, are also comparable to the odontogenic tumors. The malignant transformation of ameloblastomas results in the formation of ameloblastic carcinomas and malignant ameloblastomas depending on cytological dysplasia and metastasis, respectively. AOTs are classified into follicular, extrafollicular, and peripheral types. Ameloblastomas are common, have an aggressive behavior and recurrent course, and are rarely metastatic, while AOTs are hamartomatous benign lesions derived from the complex system of the dental lamina or its remnants. With advances in the elucidation of molecular signaling mechanisms in cells, the cytodifferentiation of epithelial tumor cells in ameloblastomas and AOTs can be identified using different biomarkers. Therefore, it is suggested that comprehensive pathological observation including molecular genetic information can provide a more reliable differential diagnosis for the propagation and prognosis of ameloblastomas and AOTs. This study aimed to review the current concepts of ameloblastomas and AOTs and to discuss their clinico-pathological features relevant to tumorigenesis and prognosis. PMID:23837011

  11. Immunoexpression of integrins in ameloblastoma, adenomatoid odontogenic tumor, and human tooth germs.

    PubMed

    de Souza Andrade, Emanuel Sávio; Miguel, Márcia Cristina da Costa; de Almeida Freitas, Roseana; Pereira Pinto, Leão; Batista de Souza, Lélia

    2008-07-01

    The expression of integrins alpha2beta1, alpha3beta1, and alpha5beta1 in 30 ameloblastomas (20 solid and 10 unicystic tumors), 12 adenomatoid odontogenic tumors (AOTs), and 5 human tooth germs in different stages of odontogenesis was analyzed. The distribution, location, pattern, and intensity of immunohistochemical expression were evaluated. Intensity was analyzed using scores (0 = absence, 1 = weak staining, and 2 = strong staining). No difference in the immunoexpression of the integrins was observed between solid and unicystic ameloblastomas. When these two ameloblastoma types were pooled into a single group, the following significant differences were found: immunoexpression of integrin alpha2beta1 was stronger in ameloblastomas than in AOTs and tooth germs, and the expression of integrin alpha5beta1 was stronger in ameloblastomas than in AOTs. The lack of detection of integrin alpha3beta1 in tooth germs and its detection in the odontogenic tumors studied suggest that this integrin might be used as a marker of neoplastic transformation in odontogenic tissues.

  12. The presentation and clinical significance of sinonasal respiratory epithelial adenomatoid hamartoma (REAH).

    PubMed

    Hawley, Karen A; Pabon, Sheila; Hoschar, Aaron P; Sindwani, Raj

    2013-03-01

    Sinonasal respiratory epithelial adenomatoid hamartoma (REAH) is a benign glandular proliferation with ciliated epithelium. Little is known about REAH, with only a few published case reports appearing since its original description in 1995. Classically described as an isolated polypoid lesion arising from the nasal septum, more recent descriptions also suggest that REAH can occur among nasal polyps. We report the largest experience with REAH to date, and aim to better understand and characterize this unique entity. In this case series, all cases of REAH diagnosed between 2006 and 2011 were reviewed. Clinical presentation, histologic and radiographic features, and operative findings were examined. There were 45 patients 19 females and 26 males, with a mean age of 55.9 years (range, 23-83). Most cases of REAH (33/45, 73%) were found in association with another pathologic process (sinonasal polyposis, adenoiditis, hereditary hemorrhagic telangiectasia [HHT], inverted papilloma [IP], or malignancy). Of these, REAH occurring among diffuse polyposis (79% of cases) represented the large majority. The average Harvard computed tomography (CT) stage for this cohort was 3.1. The other presentation of REAH (12/45, 27%) was an isolated sinonasal mass. In cases of isolated REAH, the majority of lesions (75%) were noted to be originating in the olfactory clefts. Isolated REAH, which may mimic a neoplasm, appears to be a different clinical entity than the more common form encountered in association with nasal polyps and inflammation. Further investigation into the etiology and clinical significance is needed. © 2013 ARS-AAOA, LLC.

  13. A caecal pseoudotumour with an incidental adenomatoid testicular tumour in a man with right undescended testis: a case report.

    PubMed

    Muturi, Alex; Kotecha, Vihar; Ojee, Cynthia; Mang'oka, Desmond; Muthuri, John

    2016-09-01

    Inflammatory pseudotumour refers to a non-malignant tumour-like mass resulting from an inflammatory reaction that is composed of granulation tissue with leukocyte infiltration that commonly occurs in the paediatric or young adult population. These tumours occur more commonly in the lungs and the orbit but rarely does it affect the gastrointestinal tract. It poses a clinical diagnostic challenge since it is a benign condition than can mimic the malignant counterpart. Our case is a rare presentation of the caecal pseudotumour in the presence of a right undescended abdominal testis evaluated as a caecal tumour with a differential diagnosis of a testicular malignancy. We report a 53-year-old male who presented with clinical signs suggestive of right colon tumour and undescended right testis. Intra-operatively, a caecal mass was found with no clearly discernable appendix and extensive adhesion of the right colon to the retroperitoneum, to the liver and gall bladder. A testis was found adherent to the posterior aspect of the caecum and terminal ileum. A right hemicolectomy was performed. Histopathology findings revealed an inflammatory mass with abundant fibroblast proliferation and chronic inflammatory cells infiltrate, involving bowel wall and periceacal adipose tissue; no malignant cells were identified. The testis had within it an adenomatoid tumour nodule. He had uneventful recovery and was discharged home 7 days post-operatively. At the moment, he is symptoms free. The occurrence of right colonic inflammatory pseudotumour and co-existent adenomatoid testicular tumour arising from a cryptorchid testis is very unusual. This would make one incline towards a malignant testicular lesion in the presence of cryptorchidism. Testicular adenomatoid tumour is a rare benign neoplasm, mostly affecting fully descended testis and usually does not warrant orchidectomy for purposes of preserving testicular function. On the other hand, surgical resection remains the only safe and

  14. Proteus Syndrome with Arteriovenous Malformation

    PubMed Central

    Asilian, Ali; Kamali, Atefeh Sadat; Riahi, Nabet Tajmir; Adibi, Neda; Mokhtari, Fatemeh

    2017-01-01

    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome. PMID:28401074

  15. Management of prenatally diagnosed congenital malformations--actual problems and the importance of an interdisciplinary team approach.

    PubMed

    Stauffer, U G

    1986-01-01

    Today's methods of prenatal diagnosis, i.e., ultrasound, amniocentesis, and fetoscopy, allow for early recognition of abnormalities in the fetus. Trials of surgery on human fetuses are widely discussed in scientific as well as lay journals; they are accepted with enthusiasm by some and severely criticized as unethical by others. This report deals with the modern concepts of prenatal diagnosis and possible therapy in the light of current general social context. Some of the arising controversies and ethical problems are shown. The consequences of prenatal diagnosis of congenital malformations of the fetus are separately discussed with reference to the mother, the family, and society on one side and to the fetus itself on the other. The practical question of whether the fetus is already a person or not is seen against its historical, religious, and philosophical background. The necessity for an interdisciplinary team approach in dealing with mothers bearing malformed children--i.e., cooperation of obstetricians, pediatric surgeons, neonatologists, geneticians, neurologists, etc.--is stressed, and the contribution of the pediatric surgeon within this team is discussed in detail, with practical examples given. The present status of intrauterine therapy is summarized and critically evaluated. Finally, an example is given of the ideal team approach in a case of prenatally diagnosed congenital cystic adenomatoid malformation with a successful outcome and long-term survival.

  16. Repair of a defect following the removal of a maxillary adenomatoid odontogenic tumor using guided tissue regeneration. A case report.

    PubMed

    Vitkus, R; Meltzer, J A

    1996-01-01

    Adenomatoid odontogenic tumors (AOT) make up 3% of odontogenic tumors. This tumor, most commonly found in the maxillary arch, mimics a follicular cyst associated with an impacted tooth. This is a case report of an AOT found in a 14-year-old female undergoing active orthodontic therapy. The surgical removal of the lesion resulted in the exposure of a large bony cavity surrounding the maxillary left canine. Placement of freeze-dried bone and coverage with an expanded polytetrafluoroethylene membrane resulted in rapid and complete healing of the lesion and restoration of osseous support.

  17. An unusually large aggressive adenomatoid odontogenic tumor of maxilla involving the third molar: A clinical case report

    PubMed Central

    Dhupar, Vikas; Akkara, Francis; Khandelwal, Pulkit

    2016-01-01

    Adenomatoid odontogenic tumor (AOT) is a rare tumor comprising only 3% of all odontogenic tumors. It is a benign, encapsulated, noninvasive, nonaggressive, slowly growing odontogenic lesion associated with an impacted tooth. These lesions may go unnoticed for years. The usual treatment is enucleation and curettage, and the lesion does not recur. Here, we present a rare case of an unusually large aggressive AOT of maxilla associated with impacted third molar. The authors also discuss clinical, radiographic, histopathologic, and therapeutic features of the case. Subtotal maxillectomy with simultaneous reconstruction of the surgical defect with temporalis myofascial flap was planned and carried out. PMID:27095910

  18. Expression of CK14 and vimentin in adenomatoid odontogenic tumor and dentigerous cyst

    PubMed Central

    Sudhakara, Muniswamappa; Rudrayya, S Puranik; Vanaki, Srineevas S; Bhullar, RamanPreet Kaur; Shivakumar, MS; Hosur, Mahadevi

    2016-01-01

    Background: Origin of adenomatoid odontogenic tumor (AOT) has long been a controversy, and the issue of it being a neoplasm or hamartoma was a subject of debate for a long time. Earlier it was grouped under a mixed group of odontogenic tumors considering the varying degrees of inductive changes. Recently, the WHO classification states that the presence of hard tissue within AOT was not due to induction but was rather a metaplastically produced mineralization and hence the tumor was reclassified under a group of tumors arising from odontogenic epithelium. This study is an attempt to identify if both epithelial (cytokeratin 14 [CK14]) and mesenchymal (vimentin) markers are expressed in the follicular and extrafollicular variants of AOT and to compare the expression with dentigerous cyst (DC) as this cyst is known to arise from reduced enamel epithelium which expressed CK14. This is done to possibly relate the origin of AOT with reduced enamel epithelium. Aims and Objectives: To study, analyze and correlate the expression of CK14 and vimentin in AOT and DC. Materials and Methods: Retrospective study on paraffin embedded tissues. Sixteen cases of AOT and 15 cases of DC were retrieved from the departmental archives and subjected to CK14 and vimentin immunostaining. Statistical Methods: Measures of central tendency was used to analyze the results. Results and Observations: Ninety percent of cases of follicular AOT (FAOT) and 100% cases of extra-follicular AOTs (EAOTs) showed positivity for CK14 and all cases of DC showed positivity for CK14. Vimentin was positive in 44% and negative in 56% cases of both FAOT and EAOT taken together. Conclusion: The CK14 expression profile in AOT and DC supports its odontogenic epithelial specific nature. The possible role of reduced enamel epithelium and dental lamina in histogenesis of AOT and DC is strongly evident by their CK14 expression pattern. PMID:27721599

  19. CT findings of sinonasal respiratory epithelial adenomatoid hamartoma: a closer look at the olfactory clefts.

    PubMed

    Hawley, K A; Ahmed, M; Sindwani, R

    2013-05-01

    Respiratory epithelial adenomatoid hamartoma is a benign glandular neoplasm of the sinonasal cavities, which presents in isolation (REAHi) or in the setting of an adjacent inflammatory process such as sinonasal polyps. It is frequently found in the olfactory clefts. CT features of the 2 clinical presentations have not been well defined. We present the CT findings of REAH, focusing on the degree of associated sinusitis and changes in the OCs. We hypothesized that widening of the OCs and associated severity of the sinusitis are diagnostic features of REAH, differentiating it from SNP. In this case-control study, we compared patients with REAHi, those with REAH in the setting of SNP (REAHsnp), and those with SNP only (control patients). Patients with REAH were excluded if they had an adjacent inflammatory process other than SNP or if they did not have disease in the OC. We analyzed Harvard sinus CT scores and OC dimensions. A total of 29 patients with REAH were included: 7 with REAHi and 22 with REAHsnp. A total of 26 control patients were identified. Patients with REAHi had significantly lower Harvard CT scores than did the other groups. The OC width and the ratio of OC to the total nasal distance were significantly larger in both REAH groups compared with those of the control patients. If the OC is 10 mm or more, the sensitivity and specificity for the presence of REAH are 88% and 74%, respectively. Both clinical presentations of REAH are associated with OC widening on CT scan. In the setting of polypoid disease, an OC width of > 10 mm should increase suspicion for the presence of REAH.

  20. A comparative immunohistochemical study of Ki-67 and Bcl-2 expression in solid ameloblastoma and adenomatoid odontogenic tumor

    PubMed Central

    Razavi, Sayed Mohammad; Tabatabaie, Sayed Hosein; Hoseini, Ali Tavakoli; Hoseini, Ehsan Tavakoli; Khabazian, Arezu

    2012-01-01

    Background: Solid ameloblastoma (SAB) is an invasive tumor which infiltrates adjacent normal tissues. Adenomatoid odontogenic tumor is a noninvasive tumor and never infiltrates surrounding normal tissues. The purpose of this study was to determine the biological behavior of these two epithelial odontogenic neoplasm by detecting Ki-67 and Bcl-2, which are mitotic and anti apoptotic markers respectively. Materials and Methods: In this analytical retrospective study, 16 samples of SAB and 16 samples of adenomatoid odontogenic tumor were selected. The samples were deparafinized and antigens were retrieved. Immunohistochemistry technique was applied for evaluation of these two markers. Monoclonal antibodies MIB1 and Bcl-2 were used to detect Ki-67 and Bcl-2 protein respectively, then the labeling index (LI) was calculated for both markers according to cellular staining. Data were analyzed by “t” test, (P<0.05). Results: The mean values of LI for Ki-67 in SAB and Adenomatiod odontogenic tumor (AOT) were 4 and 1% respectively and for Bcl-2 in SAB and AOT were 63 and 26% respectively. The indices of both markers were higher in SAB compared to AOT (P <0.05). Conclusions: Higher percentage of these two markers in SAB compared to AOT confirms the aggressive behavior of SAB and the hamartomatosis behavior of AOT. PMID:22623937

  1. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy

    PubMed Central

    Shah, Parinda H; Anderson, Robert H

    2015-01-01

    Magnetic resonance imaging (MRI) is increasingly used as an investigation during fetal life, particularly for assessment of intracranial masses, congenital diaphragmatic hernia, myelomeningocele, and abdominal masses. As the number of scans increases, so is the variety of congenital malformations being recognized. It is axiomatic that interpretation of the findings is enhanced when attention is paid to the likely findings in the setting of known syndromes, this information then dictating the need for additional acquisition of images. One such syndrome is so-called “visceral heterotaxy”, in which there is typically an isomeric, rather than a lateralized, arrangement of the thoracic and abdominal organs. Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations. In this review, we discuss how these findings can be demonstrated using fetal MRI.  PMID:26180693

  2. [Hemangioma and superficial arteriovenous malformations].

    PubMed

    Brevière, G M; Piette, F; Beregi, J P; Rey, C

    1999-05-01

    Haemangiomas are different from true superficial vascular malformations. The haemangiomas, mainly affecting the newborn and small babies, will, after a phase of progression, sometimes regress completely. Therapeutic abstention is the rule except in high risk angiomas when steroid therapy may be effective. Visceral involvement poses problems. Superficial vascular malformations, on the other hand, arise at all ages and may affect any blood vessel. Each type has a specific clinical presentation, complementary investigations and appropriate treatment. Some are slowly progressive, for example capillary, venous and lymphatic malformations. Others are haemodynamically active, such as the arteriovenous malformations. Capillary malformations are flat angiomas with aesthetic consequences, apart from the Sturge-Weber-Krabbe syndrome. Cold, blue venous malformations confirmed by ultrasonography and magnetic resonance imaging, when necessary, require treatment adapted to their site and size: compression, embolisation, surgery or abstention. Lymphatic malformations may be cystic or tissular: the cystic lymphangioma, a soft swelling of often healthy skin, with compartments separated by septa on ultrasound scan, is usually treated by ethibloc embolisation. Arteriovenous malformations, warm and pulsatile, demonstrated at arteriography, may progress rapidly and treatment by surgery or embolisation, when necessary, has to be complete. Finally, there are complex vascular malformations which pose very difficult problems of management.

  3. Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.

    PubMed

    Hisama, F M; Reyes-Mugica, M; Wargowski, D S; Thompson, K J; Mahoney, M J

    1998-12-04

    We report on three brothers with renal tubular dysgenesis and absent nipples, each also had other malformations including pre-auricular pits and a preauricular tag, branchial clefts, choanal atresia, pulmonary lobation anomaly, ventricular septal defect, type IIB interrupted aortic arch, absent gallbladder, absent thymus, parathyroid gland, accessory spleen, imperforate anus, clinodactyly, and broad digits and small nails. All three infants died neonatally. This pattern of clinical malformations appears to be a previously unreported syndrome.

  4. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used.

  5. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  6. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  7. A Rare Coexistence of Bilateral Congenital Wilms Tumor with Ductal Plate Malformation at Autopsy.

    PubMed

    Mitra, Suvradeep; Chatterjee, Debajyoti; Gowda, Kiran; Das, Ashim

    2016-01-01

    Congenital Wilms tumor is a tumor of childhood. Here we present an unusual case of bilateral congenital Wilms tumor with associated ductal plate malformation. In addition, there was also associated oligohydramnios, pulmonary hypoplasia, and multiple skeletal anomalies in this index case. Although various syndromic associations of Wilms tumor are well described in the literature, an association of congenital Wilms tumor with ductal plate malformation, polysplenia, and skeletal malformations is not reported. We believe that this is the first reported case of such an association.

  8. Congenital cardiovascular malformations and the fetal circulation.

    PubMed

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  9. Hybrid ameloblastoma and adenomatoid odontogenic tumor: report of a case and review of hybrid variations in the literature.

    PubMed

    Yamazaki, Manabu; Maruyama, Satoshi; Abé, Tatsuya; Babkair, Hamzah; Fujita, Hajime; Takagi, Ritsuo; Koyama, Jun-Ichi; Hayashi, Takafumi; Cheng, Jun; Saku, Takashi

    2014-07-01

    Hybrid odontogenic tumors including 2 or more different histologic types have been documented, but their occurrences are not very common. We present a case of hybrid odontogenic tumor composed of ameloblastoma and adenomatoid odontogenic tumor (AOT) arising in the mandibular molar region of a 31-year-old Japanese woman who had a history of familial adenomatous polyposis. The tumor, measuring 10 mm in diameter, was surgically removed from the alveolar bone. Histopathologically, the tumor consisted of both follicular and plexiform types of ameloblastoma in which multiple and smaller foci of AOT were intermingled. There have been 3 reported cases of hybrid ameloblastoma and AOT, all of which presented unicystic types as ameloblastoma components. This, however, is the first report of a hybrid tumor containing an authentic solid-type ameloblastoma compartment and an AOT compartment in a patient with a background of familial adenomatous polyposis. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Management of venous malformations.

    PubMed

    Richter, Gresham T; Braswell, Leah

    2012-12-01

    Venous malformations (VMs) frequently occur in the head and neck with a predilection for the parotid gland, submandibular triangle, buccal space, muscles of mastication, lips, and upper aerodigestive tract. They are composed of congenitally disrupted ectatic veins with inappropriate connections and tubular channels. Because VMs have poorly defined boundaries and a tendency to infiltrate normal tissue, they require calculated treatment decisions in the effort to preserve surrounding architecture. Sclerotherapy, surgical excision, neodymium:yttrium aluminum garnet laser therapy, or a combination of these modalities is employed in the management of VMs. Although many small VMs can be cured, the objective is often to control the disease with periodic therapy. Location, size, and proximity to vital structures dictate the type of therapy chosen. Vigilance with long-term follow up is important. This review outlines current diagnostic and therapeutic approaches to simple and extensive cervicofacial VMs. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  11. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  12. Extra-lobar Pulmonary Sequestration Requiring Intrauterine Thoracentesis

    PubMed Central

    Kahvecioglu, Dilek; Alan, Serdar; Yildiz, Duran; Akduman, Hasan; Erdeve, Omer; Bahadir, Gulnur Gollu; Kologlu, Meltem; Atasay, Begum; Arsan, Saadet

    2015-01-01

    Congenital lung malformations can result in significant morbidity and mortality in children. Pulmonary sequestration is an uncommon congenital malformation of the lung that can cause complications even in fetal life. We herein present a newborn with extra-lobar sequestration (ELS) that lead to hydrops fetalis necessitating fetal intervention. PMID:25628992

  13. A subserosal, pedunculated, multilocular uterine leiomyoma with ovarian tumor-like morphology and histological architecture of adenomatoid tumors: a case report and review of the literature.

    PubMed

    Yorita, Kenji; Tanaka, Yu; Hirano, Koki; Kai, Yuka; Arii, Kaoru; Nakatani, Kimiko; Ito, Satoshi; Imai, Toshiya; Fukunaga, Masaharu; Kuroda, Naoto

    2016-12-20

    Uterine leiomyomas are common uterine tumors, and typical cases of leiomyoma are easily diagnosed by imaging study. However, uterine leiomyomas are often altered by degenerative changes, which can cause difficulty and confusion in their clinical diagnosis. We describe the 17th reported case of a uterine leiomyoma clinically diagnosed as an ovarian tumor; however, the present case shows the most detailed radiological evaluation, including contrast-enhanced magnetic resonance imaging. We first show that a uterine leiomyoma can histologically mimic an adenomatoid tumor. A 47-year-old premenopausal, nulliparous Japanese woman with a history of type 2 diabetes mellitus, hypertension, and hyperlipidemia had lower abdominal pain. Ultrasonography confirmed a 6-cm mass in the right-sided space of the pelvic cavity. Magnetic resonance imaging evaluation showed that a multilocular mass was present near the uterus, and a mucinous ovarian tumor was considered. Emergency surgery due to acute abdomen was performed under the diagnosis of pedicle torsion of the ovarian tumor. During surgery, a pedunculated uterine mass without stalk torsion was seen. The mass grossly contained serous and hemorrhagic fluids in the cavities, and pathology examination confirmed that the mass was a leiomyoma with hydropic and cystic degeneration. Anastomosing thin cord-like arrangements of the leiomyoma cells mimicked the architecture of adenomatoid tumors. The tumor cells were positive for the microphthalmia transcription factor but negative for other melanoma markers. Three days postoperatively, she was discharged without sequelae. Marked intratumoral deposition of fluids may induce the multilocular morphology of a tumor, and the cellular arrangement of the tumor cells with hydropic degeneration mimicked an adenomatoid tumor in this case. Clinicians need to be aware that a subserosal leiomyoma with cystic and hydropic degeneration can mimic an ovarian tumor, and pathologists should be aware that such

  14. Lymphatic malformations: current cellular and clinical investigations.

    PubMed

    Perkins, Jonathan A; Manning, Scott C; Tempero, Richard M; Cunningham, Michael J; Edmonds, Joseph L; Hoffer, Fredric A; Egbert, Mark A

    2010-06-01

    Summarize current knowledge of lymphatic malformation development, biology, and clinical outcome measures. Panel presentation of lymphatic malformation biology and measurement of head and neck malformation treatment outcomes. Characterization of lymphatic malformation endothelial and stromal cells may lead to biologically based treatment. Traditionally, lymphatic malformation treatment outcomes have been measured according to reduction of malformation size. Currently, methods to measure functional outcomes following lymphatic malformation treatment are lacking. This is particularly apparent when the malformation directly involves the upper aerodigestive tract. The etiology and pathogenesis of head and neck lymphatic malformations are poorly understood, but understanding is improving through ongoing investigation. Reduction of lymphatic malformation size is generally possible, but further work is necessary to optimize methods for measuring therapeutic outcomes in problematic areas. Copyright 2010 American Academy of Otolaryngology-Head and Neck Surgery Foundation. Published by Mosby, Inc. All rights reserved.

  15. Embolization of uterine arteriovenous malformation

    PubMed Central

    Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

    2013-01-01

    Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment PMID:24639742

  16. [Diagnostics of genetic malformations in small ruminants].

    PubMed

    Ganter, M

    2013-01-01

    The epidemic occurrence of the Schmallenberg virus has induced numerous congenital malformations in small ruminants. Because of this high incidence of malformed lambs, an overview of the different causes of congenital malformations is provided. The most frequent infectious and physical causes as well as mineral and vitamin deficiencies and toxic agents which can induce congenital malformations are indicated. This list is supplemented by advice on sampling and laboratory diagnosis for an etiological diagnosis of the malformations.

  17. Extralobar pulmonary sequestration as a cause of recurrent pulmonary hemorrhage in a neonate.

    PubMed

    Akdag, Arzu; Arici, Sule; Kaya, Mete; Turgut, Ahmet

    2016-02-01

    Pulmonary sequestration is acystic or solid congenital lung malformation comprised of non functional lung tissue that does not communicate with the normal tracheobronchial tree and has a systemic arterial blood supply. There are two forms of sequestration: intralobar and extralobar. Its treatment is surgical resection. Here we presented a case of premature neonate with extralobar pulmonary sequestration who had respiratory failure and recurrent pulmonary hemorrhage. Following surgery, the patient showed significant clinical improvement.

  18. Embolization of Arteriovenous Malformation

    PubMed Central

    Nagashima, H.; Hongo, K.; Kobayashi, S.; Takamae, T.; Okudera, H.; Koyama, J.I.; Oya, F.; Matsumoto, Y.

    2004-01-01

    Summary Treatment options for cerebral arteriovenous malformation (AVM) are still controversial due to the recent result of stereotactic radiosurgery and the improved result of microsurgical resection. We investigated previously treated AVM cases and discussed the efficacy and safety of preoperative embolization especially for microsurgical resection of high-grade AVM in the Spetzler-Martin grading. Efficacy of preoperative embolization was evaluated based on 126 previously treated AVM cases at Shinshu University Hospital during the last 25 years. The safety of embolization was evaluated based on our previously-embolized 58 AVM cases (91 procedures) in the last 11 years after introduction of preoperative embolization for AVM. In all 126 cases, 82 were treated before introduction of embolization and 44 were treated after introduction of embolization. In 82 cases of the pre-embolization era, 63 lesions were removed totally in 63 AVMs (77%), partially resected in 11 (13%) and untreated in eight (10%). In 74 surgically removed cases, 11 (15%) cases showed severe intra/postoperative bleeding. In 44 cases of the embolization era, lesions were removed totally in 29 AVMs (66%), disappeared only with embolization in one (2%), disappeared with radiosurgery in seven (16%) and were untreated in five (11%). In 32 surgically removed cases, only one (2%) case showed severe intra/postoperative bleeding. In all 58 embolized cases, 44 were surgically removed, six were treated with radiosurgery, one was eliminated with embolization alone and six were partially obliterated and followed up for their location. In 91 procedures for 58 cases, two haemorrhagic and three ischemic complications occurred, three were transient and two remained having neurological deficits. The introduction of preoperative embolization improved the total removal rate and reduced the intra/postoperative bleeding rate in surgical removal of AVM. The total risk of embolization is low and well-designed preoperative

  19. [Surgical treatment of vascular malformations].

    PubMed

    Fernández Alonso, L

    2004-01-01

    In spite of the numerous advances made over the last two decades, the treatment of congenital vascular malformations continues to be one of the greatest enigmas facing modern medicine. There are no clear criteria concerning the indications to be followed, and even less concerning the most appropriate therapeutic procedures for each type of lesion. The results of a strictly surgical approach are discouraging and today it is accepted that congenital vascular malformations should be attended to and treated by multidisciplinary units, combining the efforts of all the specialists involved in its treatment. This paper reviews the general principles of surgical treatment of congenital vascular malformations, without losing sight of the fact that the traditional role of isolated surgery in the treatment of congenital vascular malformations has been replaced by a multidisciplinary approach to this type of lesions, making it possible to integrate embolization, sclerotherapy and surgery to improve the results. The combination of these techniques reduces the risk and complications that existed when they were applied in an isolated form. Thus, surgical treatment should not be considered as an independent tool of treatment but as a therapeutic weapon integrated in the ensemble of measures directed at improving the quality of life of the patient with a congenital vascular malformation.

  20. Successful breastfeeding with breast malformations.

    PubMed

    Faridi, M M A; Dewan, Pooja

    2008-11-01

    Congenital and acquired malformations of the breast can present with difficulty in breastfeeding. The authors report on 3 mothers of Indian origin who successfully breastfed their babies after appropriate counseling despite having different breast malformations. One of the mothers had bilateral ectopic axillary breasts but was able to breastfeed after expressing them. The other 2 mothers had burns scars over the chest and breasts, with a flat nipple in 1 of them, and a psychological barrier was seen in both of them. Both mothers were able to successfully breastfeed after counseling and some practical help.

  1. Glioblastoma Mimicking an Arteriovenous Malformation

    PubMed Central

    Khanna, Arjun; Venteicher, Andrew S.; Walcott, Brian P.; Kahle, Kristopher T.; Mordes, Daniel A.; William, Christopher M.; Ghogawala, Zoher; Ogilvy, Christopher S.

    2013-01-01

    Abnormal cerebral vasculature can be a manifestation of a vascular malformation or a neoplastic process. We report the case of a patient with angiography-negative subarachnoid hemorrhage (SAH) who re-presented 3 years later with a large intraparenchymal hemorrhage. Although imaging following the intraparenchymal hemorrhage was suggestive of arteriovenous malformation, the patient was ultimately found to have an extensive glioblastoma associated with abnormal tumor vasculature. The case emphasizes the need for magnetic resonance imaging to investigate angiography-negative SAH in suspicious cases to rule out occult etiologies, such as neoplasm. We also discuss diagnostic pitfalls when brain tumors are associated with hemorrhage and abnormal vasculature. PMID:24137154

  2. Cardiac arteriovenous malformation causing sudden death.

    PubMed

    Aguilera, Beatriz; Suárez-Mier, M Paz; Argente, Trinidad

    2004-01-01

    Cardiac vascular malformations are rare. We report a subendocardial arteriovenous malformation (AVM), associated with extensive myocardial fibrosis, causing sudden death in a 25-year-old woman. To our knowledge, this is the first autopsy case reported.

  3. MR imaging of cerebral vascular malformations.

    PubMed

    Lee, B C; Herzberg, L; Zimmerman, R D; Deck, M D

    1985-01-01

    Fifteen vascular malformations, including six supratentorial arteriovenous malformations (AVMs), three venous malformations, and six brainstem vascular malformations, were examined on 0.5 T magnetic resonance (MR) and GE 9800 and 8800 computed tomographic (CT) scanners. All the malformations were shown by MR, and the arterial and venous drainage of AVMs was precisely delineated. Hematoma was always differentiated from calcification by MR signal characteristics. Increased signal in the brain parenchyma was often seen adjacent to AVMs. The signal of blood within venous malformations altered with spin-echo techniques using various repetition times and was distinguished from rapidly flowing blood in AVMs that lacked signal in all imaging sequences. Brainstem malformations were seldom demonstrated by angiography. Hemorrhage was common and was invariably associated with multiple areas of absent signal that may have represented abnormal vessels. These appearances are distinct from those of intrinsic tumors and are probably pathognomonic of brainstem vascular malformations.

  4. A retrospective review of 61 cases of adenomatoid odontogenic tumour seen in five tertiary health facilities in Nigeria

    PubMed Central

    Adisa, Akinyele Olumuyiwa; Lawal, Ahmed Oluwatoyin; Effiom, Olajumoke Ajibola; Soyele, Olujide Oladele; Omitola, Olufemi Gbenga; Olawuyi, Adetokunbo; Fomete, Benjamin

    2016-01-01

    Introduction Adenomatoid odontogenic tumor (AOT) is a benign lesion originating from the dental lamina or its remnants. It is a relatively uncommon neoplasm representing about 3% of all odontogenic tumors. The aim of this study was to examine the clinical and radiological characteristics of AOTs in five major tertiary centres in Nigeria. Methods Archival hospital-based data stores of five tertiary health facilities in Nigeria were accessed. Case files and biopsy records were retrieved to obtain relevant information. Data was collected according to a proforma for standardization and entered into and analysed using SPSS for Windows (version 20.0; SPSS Inc. Chicago, IL). Results 61 (4.5%) cases of AOT were documented. The age range was 8-46 years with a mean age of 20.4±9.9 years. Male: Female ratio was 1:1.3. The anterior maxilla had 34 (55.8%) cases and the anterior mandible had 20 (32.8%) cases. 40 (65.6%) follicular cases, 20 (32.8%) extra-follicular cases and 1(1.6%) extra-osseous case were found. 31 cases (61.1%) were associated with impacted teeth and the upper canine was involved in 19 (57.6%) cases. Conclusion This study showed AOT to be more common in the maxilla, more in females, most often associated with impacted canines, however, the suggestion of AOT being a “Two third tumour” was not observed in this study. PMID:27642441

  5. Cell cycle aberration in ameloblastoma and adenomatoid odontogenic tumor: As evidenced by the expression of p53 and survivin.

    PubMed

    Shaikh, Zulfin; Niranjan, K C

    2015-01-01

    p53 and survivin are involved in cell cycle progression and inhibition of apoptosis, respectively. Survivin is a unique protein which functions in progression of cell division and inhibits apoptosis leading to cell proliferation and cell survival. According to the literature, mutation of p53 leads to promotion of survivin function. Thus, the importance of cell cycle aberration and uncontrolled proliferation resulting from mutation of p53 and up-regulation of survivin is discussed. To assess the role of p53 and survivin in ameloblastoma and adenomatoid odontogenic tumor (AOT). The percentages of positive tumor cells were considered for statistical evaluation. Nuclear labeling index for p53 and nuclear, cytoplasmic and combined labeling index for survivin was obtained from the stained slides. Immunohistochemical expression of p53 and survivin was done qualitatively and quantitatively in 25 cases each of ameloblastoma and AOT. Mann-Whitney U-test, Wilcoxon signed ranks test and Pearson's correlation test. Quantitatively, p53 and survivin expression was statistically significant in AOT (P = 0.003) and qualitatively, in ameloblastoma (P = 0.004). Survivin expression was significant (P = 0.002) between the study groups unlike that of p53 (P = 0.554). There was no much difference in p53 expression in ameloblastoma and AOT suggestive of cell cycle aberration in both the odontogenic tumors, but significant difference in survivin expression in ameloblastoma and AOT with higher percentage of positive cells in ameloblastoma may be indicative of an aggressive behavior of ameloblastoma.

  6. Unnatural history of the right ventricle in patients with congenitally malformed hearts.

    PubMed

    Lopez, Leo; Cohen, Meryl S; Anderson, Robert H; Redington, Andrew N; Nykanen, David G; Penny, Daniel J; Deanfield, John E; Eidem, Benjamin W

    2010-12-01

    The long-term outcome of patients with congenitally malformed hearts involving abnormal right ventricular morphology and haemodynamics is variable. In most instances, the patients are at risk for right ventricular failure, in part due to morphological differences between the right and left ventricles and their response to chronic volume and pressure overload. In patients after repair of tetralogy of Fallot, and after balloon valvotomy for valvar pulmonary stenosis, pulmonary regurgitation is the most significant risk factor for right ventricular dysfunction. In patients with a dominant right ventricle after Fontan palliation, and in those with systemic right ventricles in association with surgically or congenitally corrected transposition, the right ventricle is not morphologically capable of dealing with chronic exposure to the high afterload of the systemic circulation. In patients with Ebstein's malformation of the tricuspid valve, the degree of atrialisation of the right ventricle determines how well the right ventricle will function as the pump for the pulmonary vascular bed.

  7. Comprehensive Treatment of Primary Orbital Arteriovenous Malformation.

    PubMed

    Xie, Jizi; Xu, Shiqiong; Shi, Yinyun; Li, Tianyuan; Jia, Renbing; Fan, Xianqun

    2017-09-01

    Primary orbital arteriovenous malformations are a rare kind of vascular malformation lesions. The authors present a 17-year-old man presented with swelling and pulsation in the left upper eyelid. The angiogram of the left internal carotid artery showed that arteriovenous malformations at the left upper eyelid area were supplied with one of the branches of ophthalmic artery. In this report, the authors elaborated the comprehensive treatments of primary arteriovenous malformation.

  8. [SURGICAL TREATMENT OF THE FACE CAPILLARY MALFORMATION].

    PubMed

    Galich, S P; Gindich, O A; Dabizha, A Yu; Ogorodnik, Ya P

    2015-08-01

    Results of surgical treatment of 37 patients for the head and neck capillary malformations were analyzed. Optimal surgical tactics, depending on the malformation form and localization, was proposed. Restitution of the tissues defect after excision of malformation, using the flaps transposition, have permitted to achieve good esthetic results.

  9. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  10. Genetic causes of vascular malformations.

    PubMed

    Brouillard, Pascal; Vikkula, Miikka

    2007-10-15

    Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.

  11. [Sclerosing treatment of vascular malformations].

    PubMed

    Cabrera, J; Redondo, P

    2004-01-01

    Traditional sclerotherapy with liquid sclerosants has been used for many years in the treatment of venous, lymphatic and low flow vascular malformations; it is efficient only with those vascular malformations of reduced size as a pre or post-operational complement. The use of liquid sclerosants has the limitations of their dilution and progressive inactivation in a great haematic volume, the irregular distribution of the sclerosant on the endothelium, the handling of the sclerosant once injected and its imperceptibility to the echo-Doppler. In their turn, both ethanol and sodium morrhuate - the most habitually employed sclerosants - produce important secondary effects. On the contrary, the use of sclerosants, specifically polidocanol in microfoam form, significantly improves the procedure, since the microfoam displaces the blood instead of mixing and diluting itself in it, thus facilitating an homogeneous distribution of the sclerosant over the endothelial surface. Finally, the echogenicity of the microbubbles, which makes them directly visible, together with their manageable consistency, means that it can be distributed more easily throughout the treated area. We comment on our experience with 50 patients with venous or low flow vascular malformations, treated with this new form of sclerosant. Similarly, the use of OK-432 (picibanil) - as the recommended sclerosant treatment in lymphatic vascular, especially macrocystic, malformations - is reviewed and its protocol given.

  12. Abernethy malformation: a case report

    PubMed Central

    2012-01-01

    Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:22642663

  13. Arteriovenous malformation of the uterus.

    PubMed

    Dodia, Nazera; George, Suku

    2015-09-17

    We present the case of a 54-year-old woman with intermittent right-sided abdominal pain. Ultrasound scans showed an unusual vascular appearance of the uterus with a thinned endometrium. Contrast CT led to a strong suspicion of an arteriovenous malformation of the uterus. The patient was successfully treated with a hysterectomy with salpingo-oophorectomy. 2015 BMJ Publishing Group Ltd.

  14. Intralesional radiofrequency in venous malformations.

    PubMed

    Garg, S; Kumar, S; Singh, Y B

    2015-03-01

    Venous malformations are usually asymptomatic and managed conservatively. Treatment, in the form of laser, sclerotherapy, or resection, is needed only if lesions present with symptoms or cosmetic deformity. The aim of this study was to find out how effective radiofrequency ablation was in patients with incomplete or unsatisfactory resolution of a venous malformation after an intralesional injection of bleomycin. During the 5 year period 2008-2012, we organised a prospective, clinical study at a tertiary care centre. Patients were selected from the outpatient department of the Lady Hardinge Medical College and associated hospitals, New Delhi, India. Five patients with venous malformations were treated by intralesional injection of bleomycin in a dose of 0.5U/kg body weight, which was repeated every 2 weeks for a total of 8 injections. They then had multiple intralesional radiofrequency ablation every 2 months until a satisfactory outcome was achieved. After the initial 8 doses the reduction in the size of the lesions was minimal (less than 50%). After 2-4 applications of radiofrequency ablation there was appreciable reduction in the size of the lesions (about 80%) with good functional and cosmetic outcomes. Radiofrequency ablation is an effective adjunct for patients with venous malformations of the head and neck that have not responded satisfactorily to intralesional injection of bleomycin. To our knowledge radiofrequency ablation after intralesional injection of bleomycin has not previously been described as a treatment for venous malformations. Copyright © 2014 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. Diagnosis and treatment of communicating bronchopulmonary foregut malformation

    PubMed Central

    Ren, Hongxia; Duan, Liqiong; Zhao, Baohong; Wu, Xiaoxia; Zhang, Hongyi; Liu, Caixia

    2017-01-01

    Abstract Rationale: Communicating bronchopulmonary foregut malformation (CBPFM) is a rare congenital malformation involving both the digestive and respiratory systems. To our best knowledge, most cases of CBPFM reported in the literature were in infancy or adulthood and CBPFM in infantile is even rarer with a high case-fatality rate partly due to misdiagnosis. Patient concerns: We presented 2 cases of neonatal CBPFM. A 11-hour male newborn was admitted because of moaning for 7 hours, and a 1-day male newborn was referred to us with profuse foams, choking on breast-milk feeding and facial cyanosis. Diagnoses: With the assistance of upper gastrointestinal tract imaging and contrast-enhanced chest computed tomography (CT), the diagnosis was established according to the most recent diagnostic criteria. Interventions: The case one recieved a lower left pneumonectomy and surgical repair of esophageal fistula. The case two was performed with a surgical repair of esophageal atresia and esophageal tracheal fistula firstly, and then also received a repair of communicating bronchopulmonary foregut malformation two weeks after the first operation. Outcomes: The case one was cured and discharged 2 weeks after admission. Unfortunately the case two died from respiratory failure. Lessons: Pediatric surgeons should therefore be aware that type I CBPMF is rare and preoperative diagnosis is usually difficult. Maldiagnosis is uncommon because clinicians often focus their attention on esophageal atresia and neglect pulmonary abnormalities. Other than upper gastrointestinal tract radiography and CT scan, bronchoscopy should be considered in pediatric patients with esophageal atresia complicated with pulmonary abnormalities, knowing that bronchoscopy may help confirm the diagnosis and select surgical strategies. PMID:28296740

  16. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Acute Respiratory Distress Syndrome after Onyx Embolization of Arteriovenous Malformation

    PubMed Central

    Tawil, Isaac; Carlson, Andrew P.; Taylor, Christopher L.

    2011-01-01

    Purpose. We report a case of a 60-year-old male who underwent sequential Onyx embolizations of a cerebral arteriovenous malformation (AVM) which we implicate as the most likely etiology of subsequent acute respiratory distress syndrome (ARDS). Methods. Case report and literature review. Results. Shortly after the second Onyx embolization procedure, the patient declined from respiratory failure secondary to pulmonary edema. Clinical entities typically responsible for pulmonary edema including cardiac failure, renal failure, iatrogenic volume overload, negative-pressure pulmonary edema, and infectious etiologies were evaluated and excluded. The patient required mechanical ventilatory support for several days, delaying operative resection. The patient met clinical and radiographic criteria for ARDS. After excluding other etiologies of ARDS, we postulate that ARDS developed as a result of Onyx administration. The Onyx copolymer is dissolved in dimethyl sulfoxide (DMSO), a solvent excreted through the lungs and has been implicated in transient pulmonary side effects. Additionally, a direct toxic effect of the Onyx copolymer is postulated. Conclusion. Onyx embolization and DMSO toxicity are implicated as the etiology of ARDS given the lack of other inciting factors and the close temporal relationship. A strong physiologic rationale provides further support. Clinicians should consider this uncommon but important complication. PMID:21687580

  18. [Congenital malformations: care or predict?].

    PubMed

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  19. Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study

    PubMed Central

    Jentink, Janneke; Dolk, Helen; Loane, Maria A; Morris, Joan K; Wellesley, Diana; Garne, Ester

    2010-01-01

    Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy. Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications. Setting Review of PubMed, Web of Science, and Embase for papers about carbamazepine exposure in the first trimester of pregnancy and specific malformations, and the EUROCAT Antiepileptic Study Database, including data from 19 European population based congenital anomaly registries, 1995-2005. Participants The literature review covered eight cohort studies of 2680 pregnancies with carbamazepine monotherapy exposure, and the EUROCAT dataset included 98 075 registrations of malformations covering over 3.8 million births. Main outcome measures Overall prevalence for a major congenital malformation after exposure to carbamazepine monotherapy in the first trimester. Odds ratios for malformations with exposure to carbamazepine among cases (five types of malformation identified in the literature review) compared with two groups of controls: other non-chromosomal registrations of malformations and chromosomal syndromes. Results The literature review yielded an overall prevalence for a major congenital malformation of 3.3% (95% confidence interval 2.7 to 4.2) after exposure to carbamazepine monotherapy in the first trimester. In 131 registrations of malformations, the fetus had been exposed to carbamazepine monotherapy. Spina bifida was the only specific major congenital malformation significantly associated with exposure to carbamazepine monotherapy (odds ratio 2.6 (95% confidence interval 1.2 to 5.3) compared with no antiepileptic drug), but the risk was smaller for carbamazepine than for valproic acid (0.2, 0.1 to 0.6). There was no evidence for an association with total anomalous pulmonary venous return (no cases with carbamazepine exposure), cleft lip (with or without palate) (0.2, 0.0 to 1

  20. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  1. Pulmonary angiography

    MedlinePlus

    ... Pulmonary arteriography; Pulmonary angiogram; Angiogram of the lungs Images Pulmonary arteries References Jackson JE, Meaney JFM. Angiography. ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  2. Pulmonary Rehabilitation

    MedlinePlus

    ... Topics Bronchitis COPD Cystic Fibrosis Idiopathic Pulmonary Fibrosis Sarcoidosis Send a link to NHLBI to someone by ... people who have COPD (chronic obstructive pulmonary disease), sarcoidosis (sar-koy-DOE-sis), idiopathic pulmonary fibrosis , or ...

  3. Multiple cavernous malformations with supravermian arachnoid cyst.

    PubMed

    Unalp, Aycan; Uran, Nedret

    2007-11-01

    Cerebral cavernous malformation are congenital vascular abnormalities that have been reported in 0.4% of the population; they represent 5-13% of all cerebrovascular malformations. Onset of cerebral cavernous malformations may be associated with seizures, intracranial hemorrhages, focal neurological deficit or migraine-type headaches. Some patients may require surgical intervention due to hemorrhage. Multiple cavernomas in childhood have been reported in the literature, but they are rare. This manuscript presents a 12-year-old girl with multiple cavernomas accompanied by supravermian arachnoid cyst detected by neuroimaging techniques. This is the first report that demonstrates a case of pediatric multiple cavernous malformation coexisting with arachnoid cyst of the supravermian cistern.

  4. Hemodynamic consequences of cardiac malformations in two juvenile ball pythons (Python regius).

    PubMed

    Jensen, Bjarke; Wang, Tobias

    2009-12-01

    Two cases of bifid ventricles and cardiac malformations in juvenile ball python (Python regius) were investigated by blood pressure measurements and macro- and microscopic sectioning. A study of a normal ball python was included for reference. In both cases, all cardiac chambers were enlarged and abnormally shaped. Internal assessment of the ventricles revealed a pronounced defect of the muscular ridge, which normally is responsible for separating the systemic and pulmonary circuits. Consistent with the small muscular ridge, systolic pressures were identical in the pulmonary and systemic arteries, but, the snakes, nevertheless, lived to reach body weights severalfold of their hatchling weight.

  5. Surveillance of congenital malformations in infants conceived through assisted reproductive technology or other fertility treatments.

    PubMed

    Heisey, Angela S; Bell, Erin M; Herdt-Losavio, Michele L; Druschel, Charlotte

    2015-02-01

    As assisted reproductive technology (ART) becomes more common, it is important to understand the associated risks. The objective of this study was to determine if congenital malformations are associated with ART or other fertility treatments in New York. In a retrospective cohort study of all live births in upstate New York from 1997 to 2005, exposure was defined using ART or other fertility treatments as noted on birth certificates. Outcomes were assessed from the New York State Congenital Malformations Registry. Specific malformations were examined to determine if there is elevated risk for exposed singleton infants compared with infants conceived naturally. The study included 7120 in the ART group, 11,890 in the other fertility treatments group and 1,118,162 in the comparison group. The relative risk for a congenital malformation was 1.43 (95% CI 1.19-1.72) for singleton infants conceived through ART compared with singleton infants conceived naturally. The specific defects associated with ART were patent ductus arteriosus, hypospadias, and obstructive defect in the renal pelvis and ureter, while spina bifida, other specific anomalies of the spinal cord, atresia or stenosis of the pulmonary valve, hypospadias, and obstructive defects of the renal pelvis and ureter were associated with other fertility treatment. Assisted reproductive technology is associated with a slight excess risk of birth defects. The specific congenital malformations with elevated risks for singleton infants vary depending on the exposure. Further research is necessary to understand the mechanism related to the increase in risk. © 2015 Wiley Periodicals, Inc.

  6. Headache in children with Chiari I malformation.

    PubMed

    Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

    2014-05-01

    Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (<5 mm, N = 12), mild (5-9 mm, N = 27), and severe tonsillar ectopia (≥10 mm, N = 6), respectively. Twenty-four out of 33 (73%) cases with Chiari 1 malformation complained of headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

  7. Centrifuge-Simulated Suborbital Spaceflight in a Subject with Cardiac Malformation.

    PubMed

    Blue, Rebecca S; Blacher, Eric; Castleberry, Tarah L; Vanderploeg, James M

    2015-11-01

    Commercial spaceflight participants (SFPs) will introduce new medical challenges to the aerospace community, with unique medical conditions never before exposed to the space environment. This is a case report regarding the response of a subject with multiple cardiac malformations, including aortic insufficiency, pulmonary atresia, pulmonary valve replacement, ventricular septal defect (post-repair), and pulmonary artery stenosis (post-dilation), to centrifuge acceleration simulating suborbital flight. A 23-yr-old man with a history of multiple congenital cardiac malformations underwent seven centrifuge runs over 2 d. Day 1 consisted of two +G(z) runs (peak = +3.5 G(z), run 2) and two +G(x) runs (peak = +6.0 G(x), run 4). Day 2 consisted of three runs approximating suborbital spaceflight profiles (combined +G(x) and +G(z)). Data collected included blood pressure, electrocardiogram, pulse oximetry, neurovestibular exams, and post-run questionnaires regarding motion sickness, disorientation, greyout, and other symptoms. Despite the subject's significant medical history, he tolerated the acceleration profiles well and demonstrated no significant abnormal physiological responses. Potential risks to SFPs with aortic insufficiency, artificial heart valves, or valvular insufficiency include lower +G(z) tolerance, earlier symptom onset, and ineffective mitigation strategies such as anti-G straining maneuvers. There are no prior studies of prolonged accelerations approximating spaceflight in such individuals. This case demonstrates tolerance of acceleration profiles in an otherwise young and healthy individual with significant cardiac malformations, suggesting that such conditions may not necessarily preclude participation in commercial spaceflight.

  8. Visual Fixation in Chiari Type II Malformation

    PubMed Central

    Salman, Michael S.; Sharpe, James A.; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J.

    2011-01-01

    Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks’ parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152

  9. Zidovudine use in pregnancy and congenital malformations.

    PubMed

    Rough, Kathryn; Sun, Jenny W; Seage, George R; Williams, Paige L; Huybrechts, Krista F; Bateman, Brian T; Hernandez-Diaz, Sonia

    2017-07-31

    There is inconsistent evidence that zidovudine use during pregnancy increases overall, cardiac, and male genital malformations. We conducted a systematic review and meta-analysis of zidovudine use and malformations and, using Bayesian methods, combined it with data from a cohort study of mother-infant pairs in the nationwide Medicaid Analytic eXtract (MAX). Using MAX data (2000-2010), we identified pregnant women with HIV treated with antiretroviral therapy (ART). Women with at least one zidovudine dispensing during the first trimester were compared to women receiving ART without zidovudine in the first trimester. Malformation outcomes were defined using diagnosis/procedure codes. To adjust for confounding, we performed 1 : 1 propensity score matching. Bayesian methods require specification of a prior, which we developed in the meta-analysis. Logistic regression models combined MAX data with the prior, estimating odds ratios (ORs) and 95% credible intervals. Fourteen articles contributed information on overall malformations, seven on cardiac malformations, and five on male genital malformations. In MAX, matching led to a sample of 735 women each in the zidovudine and comparator groups. When comparing first trimester zidovudine use to other ART, the Bayesian procedure yielded OR estimates slightly above the null for overall [OR = 1.11, 95% credible interval (0.80-1.55)] and cardiac [OR = 1.30 (0.63-2.71)] malformations. There were no zidovudine-exposed cases of male genital malformations in MAX, but the meta-analysis yielded elevated OR estimates [OR = 2.57 (1.26-5.24)]. For most malformations, first-trimester zidovudine was not associated with increased risk. The potential increase in male genital malformations was small in absolute terms, and should be evaluated further.

  10. A case report and short review on changing trends in the site of occurrence of adenomatoid odontogenic tumor: Unravelling the past 15 years

    PubMed Central

    Sethi, Sneha; Kumar, Manish; Aggarwal, Pratul; Indra Kumar, H. S.; Sugandhi, Chetan D.; Singh, Silvie

    2016-01-01

    Adenomatoid odontogenic tumor (AOT) is an uncommon benign odontogenic lesion, with debatable histogenesis and variable histopathology. A systematic and diverse insight into the evolution, clinical presentation, histology, and immunohistochemical findings of this lesion is reviewed and presented. We reviewed the data published from 2000 to 2014 of approximately 255 cases that revealed a significant change in the incidence of predominant site involved, in contrast to the findings published by Reichart. We have also included the chronological order of events leading to the coining of the term AOT, which shows the curiosity that has been dedicated to understanding the lesion. Immunohistochemistry is considered to be a hallmark in pathology for learning the molecular pathogenesis and giving a correct final diagnosis. Several markers have been used to investigate and understand this lesion, and a compilation of the findings has been tabulated. PMID:27857774

  11. [Unilateral pulmonary agenesis, aplasia and dysplasia].

    PubMed

    Dembinski, J; Kroll, M; Lewin, M; Winkler, P

    2009-04-01

    Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.

  12. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  13. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

    Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them. PMID:27076383

  14. Radiosurgery for brainstem arteriovenous malformation.

    PubMed

    Maruyama, Keisuke; Koga, Tomoyuki; Niranjan, Ajay; Kondziolka, Douglas; Flickinger, John C; Lunsford, L Dade

    2013-01-01

    The authors outlined the treatment result of arteriovenous malformations (AVMs) inside the brainstem by reviewing the 4 existing studies in detail. The majority of patients with brainstem AVMs had a history of hemorrhage, leading to neurological deficits at the time of treatment in 72-73% of patients. The most frequent location was the midbrain or the pons depending on studies, while the medulla oblongata was the least common location throughout the series. The obliteration rate after radiosurgery was 44-73%, which was generally lower than in other locations, while the complication rate was 5-14%, which was expectedly higher than in other locations. No objective evidence for size is known, and therefore, patient selection and treatment planning should be carefully performed after judicious assessment of treatment risks and benefits among limited treatment options.

  15. New insights into craniofacial malformations

    PubMed Central

    Twigg, Stephen R.F.; Wilkie, Andrew O.M.

    2015-01-01

    Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development. PMID:26085576

  16. Genetic Basis of Brain Malformations

    PubMed Central

    Parrini, Elena; Conti, Valerio; Dobyns, William B.; Guerrini, Renzo

    2016-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations. More recent studies have also established a relationship between lissencephaly, with or without associated microcephaly, corpus callosum dysgenesis as well as cerebellar hypoplasia, and at times, a morphological pattern consistent with polymicrogyria with mutations of several genes (TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, and DYNC1H1), regulating the synthesis and function of microtubule and centrosome key components and hence defined as tubulinopathies. MCD only affecting subsets of neurons, such as mild subcortical band heterotopia and periventricular heterotopia, have been associated with abnormalities of the DCX, FLN1A, and ARFGEF2 genes and cause neurological and cognitive impairment that vary from severe to mild deficits. Polymicrogyria results from abnormal late cortical organization and is inconstantly associated with abnormal neuronal migration. Localized polymicrogyria has been associated with anatomo-specific deficits, including disorders of language and higher cognition. Polymicrogyria is genetically heterogeneous, and only in a small minority of patients, a definite genetic cause has been identified. Megalencephaly with normal cortex or polymicrogyria by MRI imaging, hemimegalencephaly and focal cortical dysplasia can all result from mutations in genes of the PI3K-AKT-mTOR pathway. Postzygotic mutations have been described for most MCD and can be limited to the dysplastic tissue in the

  17. Renal tract malformations: perspectives for nephrologists.

    PubMed

    Kerecuk, Larissa; Schreuder, Michiel F; Woolf, Adrian S

    2008-06-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young children, it is now possible to prevent the early death of at least some individuals with severe malformations. Other renal tract malformations, such as congenital pelviureteric junction obstruction and primary vesicoureteric reflux, are relatively common. Renal tract malformations are, collectively, the major cause of childhood end-stage renal disease. Their contribution to the number of adults on renal replacement therapy is less clear and has possibly been underestimated. Renal tract malformations can be familial, and specific mutations of genes involved in renal tract development can sometimes be found in affected individuals. These features provide information about the causes of malformations but also raise questions about whether to screen relatives. Whether prenatal decompression of obstructed renal tracts, or postnatal initiation of therapies such as prophylactic antibiotics or angiotensin blockade, improve long-term renal outcomes remains unclear.

  18. Plexogenic pulmonary arteriopathy in a Pembroke Welsh corgi.

    PubMed

    Kolm, U S; Amberger, C N; Boujon, C E; Lombard, C W

    2004-09-01

    A 21-month-old, male Pembroke Welsh corgi was referred for investigation of respiratory distress and progressive lethargy. Cardiac evaluation revealed a grade 4 pansystolic murmur over the left and right heart base. A heart murmur, dyspnoea, cyanosis, prolonged capillary refill time and ascites led to the tentative diagnosis of a cardiac malformation with a right-to-left shunt, with likely additional pulmonary disease. Pulmonary hypertension became evident during echocardiography, when the estimated systolic pulmonary artery pressure was over 70 mmHg. Angiography revealed abnormal pulmonary vascular markings consistent with pulmonary hypertension and a small right-to-left shunting patent ductus arteriosus (PDA). The diagnosis of PDA was confirmed at postmortem examination. Histology of the pulmonary arteries showed lesions of plexogenic pulmonary arteriopathy. The question of whether both conditions were separate or part of the same clinical syndrome is discussed in this report.

  19. Anomalous origin of the left subclavian artery from the pulmonary artery.

    PubMed

    Ugurlucan, Murat; Arslan, Ahmet Hulisi; Besikci, Resmiye Tore; Karadeniz, Oktay; Ay, Sibel; Yildiz, Yahya; Cicek, Sertac

    2014-02-01

    Isolated left subclavian artery from the pulmonary trunk is a rare congenital cardiovascular malformation. In this report, we present the images of ascending aortic aneurysm and left subclavian artery originating from the pulmonary artery in a 4-year-old girl in addition to her congenital cardiac pathology.

  20. Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis.

    PubMed

    Singal, A; Vohra, S; Sharma, R; Bhatt, S

    2016-06-08

    Blue rubber bleb nevus syndrome is a rare clinical entity. A 13-year-old Indian boy presented with characteristic cutaneous lesions, gastrointestinal malformations, skeletal involvement and pulmonary stenosis. Diagnosis was confirmed on skin biopsy, radiographic evaluation, colonoscopy and echocardiography. Echocardiography revealed pulmonary stenosis, an association hitherto undescribed. Detailed evaluation in a patient of blue rubber bleb nerves syndrome is mandatory.

  1. [Fatal Klippel-Trénaunay syndrome in a child with pulmonary embolism].

    PubMed

    Pedersen, Rie S; Hedelund, Lene; Poulsen, Lone H; Bach, Arne; Keller, Johnny

    2013-09-16

    Klippel-Trénaunay syndrome is characterized by the venous varicosities, ipsilateral cutaneous capillary malformations, and bony/soft-tissue overgrowth. Potential complications such as hypercoagulability, thrombosis and pulmonary embolism have been casuistically reported. Here, we describe a child with Klippel-Trénaunay syndrome complicated by a pulmonary embolism leading to sudden death.

  2. A fighter pilot case of pulmonary sequestration.

    PubMed

    Cui, Li; Xu, Xian-Rong; Chui, Jian-Guo; Fu, Zhao-Jun; Bi, Yong-Ming; Wang, Jian-Chang

    2012-12-01

    Pulmonary sequestration is a rare congenital malformation. The diagnosis of pulmonary sequestration is based on the identification of an abnormal arterial supply. Conventional treatment for pulmonary sequestration is surgical removal of the tissue, which may induce serious trauma and requires a long recovery time. Recently, endovascular treatment has become feasible as a safer and less invasive method to treat pulmonary sequestration. To the best of our knowledge, pulmonary sequestration has not been reported in pilots. In this study, we report a fighter pilot case of intralobar pulmonary sequestration detected with the assistance of spiral computed tomography (CT) and digital subtraction angiography. The young fighter pilot had experienced recurrent hemoptysis and pulmonary infections for approximately 10 yr before the pulmonary sequestration was diagnosed. We performed a transcatheter arterial embolization and a subsequent CT angiography confirmed complete infarction of the sequestration. After the treatment, no clinical complications were observed and the patient, with normal lung function restored, was qualified to serve as a fighter pilot again. Compared with conventional removal surgery, endovascular treatment is a superior treatment for pulmonary sequestration in a fighter pilot in maintenance of pilot qualification.

  3. Vascular Malformations: Approach by an Interventional Radiologist

    PubMed Central

    Pimpalwar, Sheena

    2014-01-01

    Children with vascular malformations are best managed with a multidisciplinary team of specialists. Interventional radiology may deliver primary treatment such as staged sclerotherapy and embolization for malformations that are poor candidates for primary surgical resection or play a supportive role such as preoperative or intraoperative embolization. A thorough understanding of vascular morphology and flow dynamics is imperative to choosing the best treatment tool and technique. In this review, the author discusses the selection of techniques and tools used to treat vascular malformations based on their angiographic morphology. PMID:25045335

  4. Anterior commissure absence without callosal agenesis: a new brain malformation.

    PubMed

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M

    2002-04-23

    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  5. Pulmonary agenesis and respiratory failure in childhood.

    PubMed

    Dinamarco, Paula Vanessa Valverde; Ponce, Cesar Cilento

    2015-01-01

    Pulmonary agenesis (PA) is a rare congenital anomaly, which may be unilateral or bilateral. Unilateral PA may be associated with nonspecific respiratory symptoms. We report the case of 5-month-old infant who presented a normal development until the age of 4 months when a respiratory infection caused an acute respiratory distress syndrome with a fatal outcome. The autopsy findings depicted the right lung agenesis without any other concomitant malformation. Although respiratory symptoms represent frequent complaints in pediatrics, the aim of this study is not only to draw attention to the unilateral pulmonary agenesis as a possible underlying malformation in children who present recurrent and severe respiratory symptoms, but also to report a case diagnosed at autopsy.

  6. Pulmonary Hypertension and Pulmonary Vasodilators.

    PubMed

    Keller, Roberta L

    2016-03-01

    Pulmonary hypertension in the perinatal period can present acutely (persistent pulmonary hypertension of the newborn) or chronically. Clinical and echocardiographic diagnosis of acute pulmonary hypertension is well accepted but there are no broadly validated criteria for echocardiographic diagnosis of pulmonary hypertension later in the clinical course, although there are significant populations of infants with lung disease at risk for this diagnosis. Contributing cardiovascular comorbidities are common in infants with pulmonary hypertension and lung disease. It is not clear who should be treated without confirmation of pulmonary vascular disease by cardiac catheterization, with concurrent evaluation of any contributing cardiovascular comorbidities.

  7. Pulmonary Fibrosis

    MedlinePlus

    Pulmonary fibrosis is a condition in which the tissue deep in your lungs becomes scarred over time. This tissue ... may not get enough oxygen. Causes of pulmonary fibrosis include environmental pollutants, some medicines, some connective tissue ...

  8. Pulmonary Rehabilitation

    MedlinePlus

    Pulmonary Rehabilitation If you have shortness of breath because of lung problems, you may have asked yourself: • Can I ... medications do I really need to take? Pulmonary rehabilitation can help answer these and other questions. Enrolling ...

  9. Genetics Home Reference: Dandy-Walker malformation

    MedlinePlus

    ... from mild to severe, and those with normal intelligence may have learning disabilities. Children with Dandy-Walker ... Dandy-Walker Malformation: A Clinical and Surgical Outcome Analysis. J Coll Physicians Surg Pak. 2015 Jun;25( ...

  10. Inner ear malformations: a practical diagnostic approach.

    PubMed

    Mazón, M; Pont, E; Montoya-Filardi, A; Carreres-Polo, J; Más-Estellés, F

    Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. [Central nervous system malformations: neurosurgery correlates].

    PubMed

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

    2013-09-06

    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them.

  12. Glomuvenous malformation: magnetic resonance imaging findings.

    PubMed

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA.

  13. Update on the management of anorectal malformations.

    PubMed

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period.

  14. Venous malformations: clinical diagnosis and treatment.

    PubMed

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W; Khademhosseini, Ali; Oklu, Rahmi

    2016-12-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies.

  15. Spontaneous thrombosis of vein of Galen malformation

    PubMed Central

    Kariyappa, Kalpana Devi; Krishnaswami, Murali; Gnanaprakasam, Francis; Ramachandran, Madan; Krishnaswamy, Visvanathan

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare intracranial vascular malformation. Before the advent and advancement of various endovascular techniques, there was dismal prognosis. Rarely, this condition may spontaneously thrombose without the need for surgical or endovascular treatment with good prognosis. We report a case of an 8-month-old infant who had serial imaging, suggestive of VOGM and presented to us for further management, wherein the imaging revealed spontaneous thrombosis. PMID:27857804

  16. Venous malformations: clinical diagnosis and treatment

    PubMed Central

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W.; Khademhosseini, Ali

    2016-01-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies. PMID:28123976

  17. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  18. Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management

    PubMed Central

    Lin, Angela E.; Pober, Barbara R.; Adatia, Ian

    2010-01-01

    The co-occurrence of congenital diaphragmatic hernia (CDH) and cardiovascular malformations (CVMs) has important clinical, genetic, and developmental implications. Previous examinations of this topic often included patients with genetic syndromes. To correct this potential bias, we undertook an extensive review of the literature and obtained new data. The frequency of CVMs associated with isolated CDH was 11–15%. A careful analysis of CVMs indicates that atrial and ventricular septal defects, conotruncal defects, and left ventricular outflow tract obstructive defects were the most common type of CVMs, but proportional to the frequency of occurrence in the general population. The combination of CVM and CDH results in a poorer prognosis than would be expected with either malformation alone. However, the impact on survival from patients with a genetic syndrome has not been consistently evaluated. We encourage researchers to re-analyze existing series and recommend that future studies distinguish isolated CDH from that which is associated with other malformations, especially as part of genetic syndromes. Therapies should be tailored to maximize cardiac output and systemic oxygen delivery rather than systemic oxygen saturation alone. Although there is speculation about the frequency with which isolated left ventricular “hypoplasia” occurs in patients with CDH, we suggest it results from compression of a pre-load deficient left ventricle by the hypertensive right ventricle, and unlike true hypoplasia, is reversible. Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome. PMID:17436301

  19. Pineal Cavernous Malformations: Report of Two Cases

    PubMed Central

    Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou

    2005-01-01

    Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radiological findings. Case 1. A 42-year- old man presented with a limitation in his upward gazing. Radiologic examinations showed acute hemorrhage in the pineal region. He underwent ventriculo-peritoneal (VP) shunting but the patient's condition deteriorated after the shunting surgery. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. Case 2. A 37-year-old man presented with diplopia. Radiologic examinations showed acute hemorrhage in the third ventricle. He underwent VP shunting, and after this procedure the diplopia was aggravated. We operated and totally removed the tumor and the hemorrhages via an occipital-transtentorial approach. If there is no doubt about the pineal cavernous malformation on MR imaging, we strongly recommend early surgical intervention without performing a risky biopsy. In this study, we describe our experiences for the diagnosis of cavernous malformations in the pineal region with special emphasis on the radiological aspects and the clinical course of this disease. PMID:16385664

  20. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  1. [Intracranial arteriovenous malformations in Taiwan].

    PubMed

    Lin, L S; Shih, C J

    1993-12-01

    This paper analyzes the available literature on intracranial arteriovenous malformations (AVM) in Taiwan. The incidence and symptoms of the disease are studied with a view to assisting practitioners in its recognition. The incidence of intracranial AVM in patients who have suffered hemorrhagic stroke in Taiwan is 2.5% to 4.8%, with the male to female ratio being 1.5:1. The peak age at which bleeding from intracranial AVM occurred ranged from 10 to 40 years; bleeding showed no seasonal variation. Sudden headaches, vomiting, and disturbance of consciousness were the commonest presenting symptoms of AVM, similar to the rupture of intracranial aneurysms. However, the possibility of focal neurological deficit among patients with intracranial AVM was higher than in patients with intracranial aneurysms. Risk factors, such as hypertension, diabetes mellitus, heart disease, smoking and alcohol intake showed no close relationship to bleeding in intracranial AVM. Pregnancy is not a risk factor in female patients with intracranial AVM with no history of hemorrhage. Small intracranial AVM are more likely to bleed. Since 1961 the majority of Taiwan's intracranial AVM patients have been treated surgically, while before that date general medicine was the treatment of choice. In recent years, several developments such as operation microscope, microsurgical instruments and microsurgical techniques have enhanced the efficacy of surgical intervention in the treatment of AVM. When the mortality and morbidity rates resulting from the two forms of treatment are compared, surgical treatment shows a better prognosis for the treatment of intracranial AVM.

  2. Fraser syndrome with partial anomalous pulmonary venous connection.

    PubMed

    Thapa, Rajoo; Bhattacharya, Arunaloke

    2008-06-01

    Fraser syndrome is characterized by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. We report a case of a two day old neonate who presented with features suggestive of the diagnosis of Fraser syndrome. This child also had partial anomalous pulmonary venous connection and congenital hypo-thyroidism.

  3. Infantile pulmonary tuberculosis: the great mimic.

    PubMed

    Varik, Roma Subhash; Shubha, Attibele Mahadevaiah; Lewin, Maria; Alexander, Betty; Kini, Usha; Das, Kanishka

    2012-06-01

    Infantile tuberculosis is common in developing countries and rarely presents as space occupying thoracic lesions mimicking congenital malformations. This case series reviews four such infants with varied presentations and their outcome. Four cases of infantile pulmonary/mediastinal tuberculosis that presented like congenital thoracic lesions are described. Details of demography, symptomatology, contact history, immunization status, provisional diagnosis, tuberculin testing, imaging, histopathology, final diagnosis, management and outcome were retrospectively collated and analyzed. They were 4-6-month males, term-born and immunized. They presented with pneumonia/hyperactive airway disease since 2-12 weeks. One had a suspect and another a close tuberculous contact. The provisional diagnosis after imaging were infected congenital lung cyst, posterior mediastinal cyst and bronchopulmonary malformation. Two were tuberculin positive; none had gastric acid-fast bacilli. One underwent a pulmonary lobectomy for necrotic lung cyst; the second had a biopsy and drainage of a posterior mediastinal cyst that contained caseating material and was densely adherent to the esophagus. Surgical biopsy showed necrotizing granulomatous inflammation in both; one with acid-fast bacilli. Both succumbed to postoperative complications. The other two with tuberculous contacts who were managed with early antituberculous therapy, responded well and recovered uneventfully. Infantile pulmonary/mediastinal tuberculosis may mimic congenital thoracic malformations. A review of contact history, investigations and imaging help to establish the tuberculous etiology, avoids surgical misadventures and prompts early antituberculous therapy to achieve a favorable outcome.

  4. Double outlet right ventricle with unilateral absence of left pulmonary artery.

    PubMed

    Ugurlucan, Murat; Arslan, Ahmet H; Yildiz, Yahya; Ay, Sibel; Cicek, Sertac

    2013-06-01

    Congenital absence of unilateral pulmonary artery, either as a primary defect or in combination with other congenital cardiovascular malformations, is very rare. Double outlet right ventricle pathology in combination with unilateral absence of pulmonary artery has only been reported once in the literature. In this report, we present our experience with double outlet right ventricle with unilateral absence of left pulmonary artery in a 3-year-old female patient who underwent a palliative procedure and was scheduled for correction.

  5. Morphological studies of pulmonary arteriovenous shunting in a lamb model of superior cavopulmonary anastomosis.

    PubMed

    McMullan, David Michael; Reddy, Vadiyala Mohan; Gottliebson, William M; Silverman, Norman H; Perry, Stanton B; Chan, Frandics; Hanley, Frank Louis; Riemer, Robert Kirk

    2008-07-01

    We sought to identify and characterize the abnormal vascular structures responsible for pulmonary arteriovenous shunting following the Glenn cavopulmonary shunt. Superior cavopulmonary shunt is commonly performed as part of the staged pathway to total cavopulmonary shunt to treat univentricular forms of congenital heart disease, however, clinically significant pulmonary arteriovenous malformations develop in some patients after the procedure. The causes of pulmonary arteriovenous malformations and other pulmonary vascular changes that occur after cavopulmonary shunt are not known. Using a juvenile lamb model of superior cavopulmonary anastomosis that reliably produces pulmonary arteriovenous malformations, we performed echocardiography and morphological analyses to determine the anatomic site of shunting and to identify the vascular structures involved. Pulmonary arteriovenous shunting was identified by contrast echocardiography in all surviving animals (n = 40) following superior cavopulmonary anastomosis. Pulmonary vascular corrosion casts revealed abnormal tortuous vessels joining pulmonary arteries and veins in cavopulmonary shunt animals but not control animals. In conclusion, unusual channels that bridged pulmonary arteries and veins were identified. These may represent the vascular structures responsible for arteriovenous shunting following the classic Glenn cavopulmonary shunt. Detailed analysis of these structures may elucidate factors responsible for their development.

  6. Surgical management of bronchopulmonary malformations.

    PubMed

    Wagenaar, Amy E; Tashiro, Jun; Hirzel, Alicia; Rodriguez, Luis I; Perez, Eduardo A; Hogan, Anthony R; Neville, Holly L; Sola, Juan E

    2015-10-01

    Bronchopulmonary malformations (BPM) are rare conditions, which typically arise below the carina and can result in significant morbidity (infection and/or hemorrhage) and mortality (respiratory failure). All children with BPM surgically treated from 2001-2014 at a tertiary care children's hospital were identified. Patient demographics, surgical indications, procedure type, estimated blood loss, pathology, perioperative complications, length of stay, and outcomes were analyzed. A total of 41 BPM patients underwent surgery with 98% overall survival (one abdominal BPM expired) but 100% for thoracic lesions. Resections were performed thoracoscopically (37%), thoracoscopy converted to open (22%), and via thoracotomy (37%). Poor visualization (67%) or inability to tolerate single lung ventilation (33%) led to conversions. No conversions resulted from hemorrhage or received blood transfusions. Patients with prenatally diagnosed BPM were more likely to undergo thoracoscopic surgery (odds ratio [OR], 18.2) versus nonprenatally diagnosed, P = 0.002. Open/converted patients had longer chest tube days (6.2) versus thoracoscopic (2.9), P = 0.048. Additionally, respiratory distress was a more common indication in patients aged <4 mo (OR, 28.0) versus ≥4 mo and <6 kg (OR, 40.5) versus ≥6 kg, P < 0.001. Open resections were more common in patients aged <4 mo (OR, 26.3) versus ≥4 mo, P = 0.002. Operative time was shorter and estimated blood loss (mL/kg) was greater for <6 versus ≥6 kg, P < 0.05. BPM resections have high overall survival. Chest tube days are shorter among thoracoscopic patients, but conversion to thoracotomy can avoid hemorrhage and need for transfusion. Size and respiratory distress limit use of thoracoscopy in young infants with BPM. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. [Venous malformations: clinical characteristics and differential diagnosis].

    PubMed

    Casanova, D; Boon, L-M; Vikkula, M

    2006-01-01

    Venous malformations (VM) are localized defects of blood vessels that are due to vascular dysmorphogenesis. These slow-flow lesions can affect any tissue or organ. Clinically, a cutaneous VM is characterized by a bluish mass that is compressible on palpation. Phleboliths are commonly present. Symptoms depend on location and size. VM are often sporadic and isolated, however, they can be associated with other malformations and be part of a syndrome; Klippel-Trenaunay (capillary-lymphatico-venous malformation with limb hypertrophy) is the most common. Glomuvenous malformation (GVM) is another type of venous anomaly. In contrast to VM, GVM is often painful on palpation and not compressible. Clinical diagnosis of VM is often made in the presence of a bluish cutaneous lesion: however, other lesions can mimick VM. The most frequent anomalies are a blue naevus, a hemorrhagic lymphatic malformation, a sub-cutaneous hemangioma or even the presence of dilated superficial normal veins due to underlying venous stenoses. This chapter will detail the clinical characteristics of venous anomalies and their differential diagnosis.

  8. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-09-24

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered.

  9. Developmental sensitivity to the induction of great vessel malformations by N-(2-aminoethyl)ethanolamine.

    PubMed

    Moore, Nigel P; Tornesi, Belen; Yano, Barry L; Nitschke, Kenneth D; Carney, Edward W

    2012-04-01

    N-(2-Aminoethyl)ethanolamine (AEEA) induced malformations of the great vessels in the offspring of rats treated during gestation and early lactation (Schneider et al., 2012. Birth Defects Res B Dev Reprod Toxicol [in press]). The aim of this study was to determine if in utero exposure alone was sufficient to induce these malformations or whether a peri-postnatal exposure or physiological component was required. Three groups of five time-mated female Wistar Han rats were administered AEEA (250 mg/kg/day) by gavage from gestation day (GD) 6 to GD 19 (groups 1 and 2) or from GD 6 to postnatal day 3 (group 3). Animals were euthanized on GD 21 (group 1) or postnatal day 4 (groups 2 and 3), and the hearts of the offspring were examined for changes to the great vessels. The incidence of malformations in group 1 was 91.1%, and primarily consisted of high aortic arch and abnormal carotid course. One fetus had an aortic aneurysm. All fetuses in groups 2 and 3 were malformed, primarily exhibiting abnormal carotid course and aneurysms, which mainly affected the aorta, ductus arteriosus, and pulmonary trunk. The incidence of high aortic arch was lower relative to group 1. Aneurysms were more prevalent in group 3 compared to group 2. These findings indicate that exposure to AEEA during gestation alone was sufficient to induce malformations of the great vessels and aneurysms, which may be triggered by physiological changes that occur during or after birth, but that the critical period of susceptibility to AEEA-induced aneurysms in the rat extends beyond gestation into the early postnatal period. © 2012 Wiley Periodicals, Inc.

  10. Arteriovenous malformation embocure score: AVMES.

    PubMed

    Lopes, Demetrius K; Moftakhar, Roham; Straus, David; Munich, Stephan A; Chaus, Fahad; Kaszuba, Megan C

    2016-07-01

    Cerebral arteriovenous malformations (CAVMs) may be treated with microsurgery, radiosurgery, endovascular surgery, or a combination of these modalities. Grading scales are available to aid the assessment of curative risk for microsurgery and radiosurgery. No grading system has been developed to assess the curative risk of endovascular surgery. To report our retrospective application of the AVM embocure score to patients treated at our institution between 2005 and 2011 METHODS: We performed a retrospective review of 39 patients with CAVM treated at our institution between 2005 and 2011 with the primary aim of achieving a curative embolization. After reviewing all the different variables associated with the conventional Onyx embolization technique for CAVMs, we identified the following as the most relevant characteristics influencing the chances for complete angiographic embolization and complication risk: the number of arterial pedicles and draining veins, size of AVM nidus, and vascular eloquence. We sought to develop a scoring system to assess the complication risk for a curative embolization of CAVM with liquid embolic Onyx (Covidien, Irvine, California, USA). We developed the AVM embocure score (AVMES). This scoring system ranges from 3 to 10 and is the arithmetic sum of the number of arterial pedicles feeding the AVM (≤3, 4-6, >6), the number of draining veins (≤3, 4-6, >6), the size of the AVM nidus in centimeters (≤3, 4-6, >6), and the vascular eloquence (0-1). We applied AVMES to the same cohort of patients and validated the predictability of complete angiographic embolization and expected clinical risk of complication. In lesions with an AVMES of 3 (n=8), there was a 100% rate of complete AVM obliteration and 0% rate of major complications. In AVMES 4 (n=12) lesions, there was 75% complete obliteration rate, with 8% major morbidity. In AVMES 5 (n=9) lesions, there was 78% complete obliteration and 11% major morbidity. In AVMES >5 (n=10) there was 20

  11. [Diagnosis and management of Mondini malformation].

    PubMed

    Yang, W; Fang, Y; Yang, S

    1997-02-01

    Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

  12. Meningitis after cochlear implantation in Mondini malformation.

    PubMed

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

  13. Ovine craniofacial malformation: a morphometrical study.

    PubMed

    Eriksen, T; Kuiper, H; Pielmeier, R; Ganter, M; Distl, O; Staszyk, C

    2012-12-01

    Craniofacial malformation in 64 sheep was phenotypically described as mandibular distoclusion. Digital radiographs were examined in order to determine the degree of morphological changes in certain bones of the skull. Therefore, laterolateral standardised digital radiographs were used to determine anatomic reference points. Subsequently, five reference lines were defined and 16 linear and seven angular measurements were determined to describe malformations in the bones of the skull. Statistical analysis revealed a significant shortening of the rostral part of the corpus mandibulae and of the ramus mandibulae. However, the molar part of the mandible remained unchanged. These morphological changes caused premolar and molar malocclusion. No further craniofacial abnormalities, such as an elongation of the maxilla or of the incisive bone, were identified. In conclusion, the phenotypically observed mandibular distoclusion is caused by a shortening of specific parts of the mandible. This form of ovine craniofacial malformation is therefore best described as brachygnathia inferior.

  14. Debendox in early pregnancy and fetal malformation.

    PubMed

    Fleming, D M; Knox, J D; Crombie, D L

    1981-07-11

    During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.

  15. Debendox in early pregnancy and fetal malformation.

    PubMed Central

    Fleming, D M; Knox, J D; Crombie, D L

    1981-01-01

    During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic. PMID:6789952

  16. Total knee arthroplasty in vascular malformation

    PubMed Central

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel–Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  17. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  18. Atypical presentations in Chiari II malformation.

    PubMed

    Rath, G P; Bithal, P K; Chaturvedi, A

    2006-01-01

    Myelomeningocele with Chiari II malformation and hydrocephalus is a common association seen in infants with a congenital failure of neurulation. Here we report two cases of such an association presenting with different sets of problems. The first patient presented with severe inspiratory stridor due to bilateral abductor vocal cord paralysis, which was relieved completely within 24 h of definitive surgery. The second patient experienced intraoperative cardiac arrest. Definitive surgery was followed after successful cardiopulmonary resuscitation. The cause of the perioperative sequence of events in both cases is attributed to the associated pathologies of Chiari II malformation.

  19. Cochlear Implantation in Children with Cochlear Malformation.

    PubMed

    Saikawa, Etsuko; Takano, Kenichi; Ogasawara, Noriko; Tsubomatsu, Chieko; Takahashi, Nozomi; Shirasaki, Hideaki; Himi, Tetsuo

    2016-01-01

    Cochlear implantation (CI) has proven to be an effective treatment for severe bilateral sensorineural hearing loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. In cases with cochlear malformation, CI can be successfully performed in nearly all patients, the exceptions being those with complete labyrinthine and cochlear aplasia. It is important to evaluate the severity of inner ear deformity and other associated anomalies during the preimplantation radiological assessment in order to identify any complication that may potentially occur during the surgery and subsequent patient management.

  20. Retroperitoneal vascular malformation mimicking incarcerated inguinal hernia.

    PubMed

    Dubey, Indu Bhushan; Sharma, Anuj; Singh, Ajay Kumar; Mohanty, Debajyoti

    2011-01-01

    A 30-year-old man presented to the Department of Surgery with a painful groin swelling on right side. Exploration revealed a reddish-blue hemangiomatous mass in the scrotum extending through inguinal canal into the retroperitoneum. On further dissection swelling was found to be originating from right external iliac vein. The swelling was excised after ligating all vascular connections. The histopathological examination of excised mass confirmed the diagnosis of venous variety of vascular malformation. This is the first reported case of vascular malformation arising from retroperitoneum and extending into inguinoscrotal region, presenting as incarcerated inguinal hernia.

  1. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  2. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  3. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    PubMed

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy.

  4. Pulmonary Embolism

    MedlinePlus

    ... for the Public » Health Topics » Pulmonary Embolism Explore Pulmonary Embolism What Is... Other Names Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Arrhythmia Deep Vein Thrombosis Lung VQ Scan Overweight and Obesity Send a ...

  5. Pulmonary blastomycosis.

    PubMed

    Bariola, J Ryan; Vyas, Keyur S

    2011-12-01

    Blastomyces dermatitidis is acquired in almost all cases via inhalation, and pulmonary disease is the most frequent clinical manifestation of blastomycosis. Pulmonary disease can range from asymptomatic infection to rapidly severe and fatal disease. Most cases will present as pneumonia, either acute or chronic, or as a lung mass. In rare cases pulmonary blastomycosis is associated with the acute respiratory distress syndrome. Blastomycosis can present as isolated pulmonary disease or along with coexisting extrapulmonary disease that usually will involve the skin, bony structures, genitourinary tract, or central nervous system. Diagnosis is largely based on isolation of the organism via culture or visualization of the organism in clinical specimens. Detection of urinary Blastomyces antigen is a recent addition to diagnostic options. Itraconazole is the drug of choice for most forms of the disease; amphotericin B is reserved for the more severe forms. Newer azoles such as voriconazole and posaconazole have a limited role in the treatment of pulmonary blastomycosis. © Thieme Medical Publishers.

  6. Primary Pulmonary Rhabdomyosarcoma in a Child

    PubMed Central

    Balaji, Raghunandan; Kumar, Prasanna; Garg, Isha; Das, Kanishka

    2017-01-01

    A 9-year-old female presented with fever, cough, and hemoptysis for a week. The chest skiagram and contrast-enhanced computerized tomography delineated a well-defined solid lesion localized to the superior segment of the right lower lobe with features of a congenital pulmonary airway malformation. The lesion was surgically managed with a segmentectomy and histopathology confirmed a contained pulmonary rhabdomyosarcoma (RMS). No other primary site of origin was evident, and a final diagnosis of “primary” pulmonary RMS was made. She received adjuvant chemotherapy and was disease free after 6 years of surveillance. The unique clinicoradiological features of the case are discussed and the sparse literature is reviewed. PMID:28082783

  7. Unilateral right pulmonary agenesis in adulthood.

    PubMed

    Gunbey, Hediye Pinar; Gunbey, Emre; Sayit, Asli Tanrivermis; Bulut, Taner

    2014-06-01

    Congenital malformations of the lung, which may vary in degrees of severity, are very rare diseases. Pulmonary artery agenesis is a rare anomaly that may occur during the early involution of the proximal portions of the sixth aortic arch, during embryological development of the heart. This agenesis may be accompained by a complete or partial absence of the lung and its bronchus on the same side, which is diagnosed as pulmonary agenesis. In the great majority of the cases, the diagnosis is usually made at or soon after birth and it can be associated with multiple anomalies. However, extremely rare asymptomatic cases may go unnoticed until adulthood. We are presenting a patient with unilateral right pulmonary agenesis, who survived through adulthood without any symptoms and other congenital anomalies. The multislice computed tomography findings and differential diagnoses have been discussed.

  8. Congenital Malformations in River Buffalo (Bubalus bubalis).

    PubMed

    Albarella, Sara; Ciotola, Francesca; D'Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-02-10

    The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  9. Genetic basis of congenital cardiovascular malformations

    USDA-ARS?s Scientific Manuscript database

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  10. Angular craniometry in craniocervical junction malformation.

    PubMed

    Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi

    2013-10-01

    The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles.

  11. Chiari I Malformation in Nephropathic Cystinosis

    PubMed Central

    Rao, Kavya I; Hesselink, John; Trauner, Doris A

    2015-01-01

    Objective To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. Study design Magnetic resonance imaging (MRI) scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years. Results Ten of 53 (18.9%) cystinosis patients had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx. Conclusions Children with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and MRI scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms. PMID:26265281

  12. Differential Gene Expression in Human Cerebrovascular Malformations

    PubMed Central

    Shenkar, Robert; Elliott, J. Paul; Diener, Katrina; Gault, Judith; Hu, Ling-Jia; Cohrs, Randall J.; Phang, Tzulip; Hunter, Lawrence; Breeze, Robert E.; Awad, Issam A.

    2009-01-01

    OBJECTIVE We sought to identify genes with differential expression in cerebral cavernous malformations (CCMs), arteriovenous malformations (AVMs), and control superficial temporal arteries (STAs) and to confirm differential expression of genes previously implicated in the pathobiology of these lesions. METHODS Total ribonucleic acid was isolated from four CCM, four AVM, and three STA surgical specimens and used to quantify lesion-specific messenger ribonucleic acid expression levels on human gene arrays. Data were analyzed with the use of two separate methodologies: gene discovery and confirmation analysis. RESULTS The gene discovery method identified 42 genes that were significantly up-regulated and 36 genes that were significantly down-regulated in CCMs as compared with AVMs and STAs (P = 0.006). Similarly, 48 genes were significantly up-regulated and 59 genes were significantly down-regulated in AVMs as compared with CCMs and STAs (P = 0.006). The confirmation analysis showed significant differential expression (P < 0.05) in 11 of 15 genes (angiogenesis factors, receptors, and structural proteins) that previously had been reported to be expressed differentially in CCMs and AVMs in immunohistochemical analysis. CONCLUSION We identify numerous genes that are differentially expressed in CCMs and AVMs and correlate expression with the immunohistochemistry of genes implicated in cerebrovascular malformations. In future efforts, we will aim to confirm candidate genes specifically related to the pathobiology of cerebrovascular malformations and determine their biological systems and mechanistic relevance. PMID:12535382

  13. Congenital Malformations in River Buffalo (Bubalus bubalis)

    PubMed Central

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  14. Transarterial Embolization of a Hepatic Arteriovenous Malformation in an Infant Using Onyx: A Case Report and Review of the Differential Diagnosis Imaging Findings

    PubMed Central

    Bolus, Christopher; Yamada, Ricardo; Alshora, Sama; Hannegan, Christopher; Anderson, Bret

    2014-01-01

    Hepatic arteriovenous malformations are rare congenital lesions associated with significant morbidity and mortality, most commonly from high output cardiac failure. Efficient diagnosis and treatment demands an interdisciplinary approach, and the interventional radiologist plays a pivotal role in both. Imaging is important for diagnostic accuracy and treatment planning, and transcatheter embolization has become an established primary therapy. We report the clinical and imaging findings of a rare hepatic arteriovenous malformation in an infant presenting with high-output cardiac failure and pulmonary artery hypertension that was successfully treated by transarterial embolization using Onyx. PMID:25426243

  15. Infradiaphragmatic Extralobar Pulmonary Sequestration: Masquerading as Suprarenal Mass

    PubMed Central

    Kalenahalli, Kiran V.; Garg, Navneet; Goolahally, Lakshmikantha N.; Reddy, Somasekhara P.; Iyengar, Jayanth

    2013-01-01

    Pulmonary sequestration is a rare malformation, wherein a portion of lung is non-functional and is not in normal continuity with the tracheo-bronchial tree, and may derive its blood supply from systemic vessels. Two types are described: Intralobar and extralobar types. Intralobar sequestration is more common type, which shares visceral pleura of the involved lobe and is localized within the normal pulmonary parenchyma. Whereas extralobar forms are uncommon and are totally separate from the lung and usually have own covering. Infra-diaphragmatic pulmonary sequestration is of extralobar type and is extremely rare, and usually is associated with other congenital malformations. We present an extremely rare case of isolated infra-diaphragmatic pulmonary sequestration which was antenatally detected and followed up with postnatal CT scan, where it masqueraded as suprarenal mass, and was surgically treated. This case emphasises to add a differential diagnosis of malformation in congenital supra-renal masses, which remain stable in size and appearance, and hence avoid immediate surgery. PMID:24251262

  16. Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

    PubMed

    Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

    2013-08-01

    Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  17. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr.

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  18. Genetic Animal Models of Malformations of Cortical Development and Epilepsy

    PubMed Central

    Wong, Michael; Roper, Steven N.

    2015-01-01

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, hetereotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  19. Pulmonary Hypertension

    MedlinePlus

    Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have ... and you can develop heart failure. Symptoms of PH include Shortness of breath during routine activity, such ...

  20. Pulmonary edema

    MedlinePlus

    ... Saunders; 2015:chap 23. Matthay MA, Martin TR, Murray JF. Pulmonary edema. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray & Nadel's Textbook of Respiratory Medicine . 6th ed. Philadelphia, ...

  1. Pulmonary Embolism

    MedlinePlus

    ... is a sudden blockage in a lung artery. The cause is usually a blood clot in the leg called a deep vein thrombosis that breaks loose and travels through the bloodstream to the lung. Pulmonary embolism is a ...

  2. Pulmonary atresia

    MedlinePlus

    ... blood flow from the right ventricle (right side pumping chamber) to the lungs. In pulmonary atresia, a ... Reconstructing the heart as a single ventricle (1 pumping chamber instead of 2) Heart transplant Outlook (Prognosis) ...

  3. Pulmonary aspergilloma

    MedlinePlus

    ... Coccidioidomycosis Cystic fibrosis Histoplasmosis Lung abscess Lung cancer Sarcoidosis The most common species of fungus that causes ... fibrosis Histoplasmosis Lung cancer - small cell Pulmonary tuberculosis Sarcoidosis Review Date 7/31/2016 Updated by: Jatin ...

  4. Pulmonary ceroidosis.

    PubMed

    Sastre, J; Renedo, G; González Mangado, N; Cabrera, P; Lahoz, F

    1987-02-01

    We describe a patient with pulmonary ceroid histiocytosis. Skin pigmentation, chest x-ray film and laboratory findings were normal. Only pulmonary function tests were abnormal (TLC = 63 percent, DLco = 52 percent). Based on these functional data, the patient was submitted to a lung biopsy by thoracotomy. Brown pigmented histiocytes were shown occupying alveolar spaces. Similar brown pigmented hepatocytes were seen in the liver biopsy.

  5. Pulmonary Agenesis.

    PubMed

    Chawla, Rakesh K; Madan, Arun; Chawla, Aditya; Arora, Harsh Nandini; Chawla, Kiran

    2015-01-01

    Unilateral opaque lung with ipsilateral mediastinal shift is an uncommon cause of respiratory distress in newborn which can be found on simple radiograph of the chest. Pulmonary agenesis is a rare cause of unilateral opaque lung in the newborn. Nearly 50% cases of pulmonary agenesis are associated with other congenital defects including cardiovascular, skeletal, gastrointestinal or genitourinary systems. We report an infant with agenesis of the right lung associated with other congenital anomalies.

  6. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity.

  7. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  8. Animal Models in Studying Cerebral Arteriovenous Malformation.

    PubMed

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term "arteriovenous malformation," limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected.

  9. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  10. Occipitoatlantoaxial malformation in an adult goat.

    PubMed

    Seva, Juan I; Gómez, Serafin; Pallarés, Francisco J; Sánchez, Pedro; Bernabé, Antonio

    2008-09-01

    An occipitoatlantoaxial malformation was diagnosed in a 1-year-old Murciano-Granadina goat. At clinical examination, the head and cranial part of the neck were deviated to the right. Clinical signs of spinal cord or brain disease were not observed. At necropsy, morphological abnormalities were seen in the craniovertebral junction and cervical vertebrae, characterized by a firm attachment and incomplete articulation between the occipital bone and the atlas, and scoliosis in the cervical regions. The definitive diagnosis was bilateral asymmetrical occipitoatlantoaxial fusion with rotation of the atlas and atlantoaxial subluxation. To the authors' knowledge, this case report is the second occipitoatlantoaxial malformation described in a goat and the first description in an adult goat.

  11. Arteriovenous malformation in chronic gastrointestinal bleeding.

    PubMed Central

    Cavett, C M; Selby, J H; Hamilton, J L; Williamson, J W

    1977-01-01

    Arteriovenous malformations of the gastrointestinal tract are uncommon and treatment is problematic because routine barium contrast studies and endoscopy fail to demonstrate the lesion. Diagnosis is by selective mesenteric arteriography, demonstrating a characteristic vascular tuft and very early venous phase. Two cases of arteriovenous malformation are presented and 47 other reported cases are reviewed. Forty-five per cent were found in the cecum; 37, or 80%, involved the distal ileum, cecum ascending colon, or hepatic flexure. Seventy-five per cent of all patients fall into the 50--80 year age range. The literature reveals a recurring pattern of chronic gastrointestinal blood loss, anemia, and delay (even negative abdominal explorations) before the diagnosis is finally made. A more aggressive approach to chronic gastrointestinal bleeding is suggested through the use of selective mesenteric arteriography. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. PMID:299801

  12. Arteriovenous malformation of the uterine cervix.

    PubMed

    Val-Bernal, José-Fernando; Hermana, Sandra

    2016-03-01

    A uterine arteriovenous malformation (AVM) is an uncommon cause of uterine bleeding. Location of this lesion in the uterine cervix is exceptional. We report a case of a 34-year-old woman who presented with chronic menorrhagias and hypochromic anemia. A sonographic study revealed a 10-cm, fundal, intramural, uterine well-circumscribed mass that distorted the endometrial cavity. The patient underwent hysterectomy for a large uterine leiomyoma. The pathological study revealed an incidental AVM of the posterior half of the cervix measuring 5.5 cm in major diameter. We suggest that in our case cervical AVM might have occurred due to a large corporal leiomyoma distorting the uterine circulation. Differential diagnosis includes capillary hemangioma, venous malformation, or arteriovenous fistula. Copyright © 2015 Elsevier GmbH. All rights reserved.

  13. Solitary vascular malformation of the clitoris.

    PubMed

    Haritharan, T; Islah, M; Zulfiqar, A; Thambi Dorai, C R

    2006-06-01

    Isolated involvement of the clitoris by vascular malformation (VM) is very rare. Clinically, the lesion simulates female pseudohermaphroditism. A five-year-old girl presented with clitoromegaly and a clinical diagnosis of solitary VM of the clitoris was made. Magnetic resonance imaging showed characteristic features and confirmed the diagnosis and the extent of the VM. This is the first reported case of isolated involvement of the clitoris by VM to be diagnosed preoperatively.

  14. Arteriovenous malformations: epidemiology and clinical presentation.

    PubMed

    Laakso, Aki; Hernesniemi, Juha

    2012-01-01

    Arteriovenous malformations (AVMs) of the brain are relatively rare congenital developmental vascular lesions. They may cause hemorrhagic stroke, epilepsy, chronic headache, or focal neurologic deficits, and the incidence of asymptomatic AVMs is increasing due to widespread availability of noninvasive imaging methods. Since the most severe complication of an AVM is hemorrhagic stroke, most epidemiologic studies have concentrated on the hemorrhage risk and its risk factors. In this article, the authors discuss the epidemiology, presenting symptoms, and hemorrhage risk associated with brain AVMs.

  15. Embolization and radiosurgery for arteriovenous malformations

    PubMed Central

    Plasencia, Andres R.; Santillan, Alejandro

    2012-01-01

    The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution. PMID:22826821

  16. Debendox and congenital malformations in Northern Ireland.

    PubMed Central

    Harron, D W; Griffiths, K; Shanks, R G

    1980-01-01

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-78) the number of prescriptions for Debendox issued by general practitioners increased more than fourfold. These observations suggest that there is no relation between congenital malformations and the use of Debendox. This conclusion, however, does not take into account other drug- or environmental-related factors that may have resulted in a reduction in the number of congenital malformations and would hence have masked an increase associated with greater usage of Debendox. In particular, the amount of Debendox sold direct to the public without a prescription and the use of the drug by patients who were not pregnant could not be established. The amount of drug used in these ways is probably small, and it is difficult to see how it might influence the conclusions reached. PMID:7437804

  17. Debendox and congenital malformations in Northern Ireland.

    PubMed

    Harron, D W; Griffiths, K; Shanks, R G

    1980-11-22

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-78) the number of prescriptions for Debendox issued by general practitioners increased more than fourfold. These observations suggest that there is no relation between congenital malformations and the use of Debendox. This conclusion, however, does not take into account other drug- or environmental-related factors that may have resulted in a reduction in the number of congenital malformations and would hence have masked an increase associated with greater usage of Debendox. In particular, the amount of Debendox sold direct to the public without a prescription and the use of the drug by patients who were not pregnant could not be established. The amount of drug used in these ways is probably small, and it is difficult to see how it might influence the conclusions reached.

  18. Pulmonary embolism

    SciTech Connect

    Dunnick, N.R.; Newman, G.E.; Perlmutt, L.M.; Braun, S.D.

    1988-11-01

    Pulmonary embolism is a common medical problem whose incidence is likely to increase in our aging population. Although it is life-threatening, effective therapy exists. The treatment is not, however, without significant complications. Thus, accurate diagnosis is important. Unfortunately, the clinical manifestations of pulmonary embolism are nonspecific. Furthermore, in many patients the symptoms of an acute embolism are superimposed on underlying chronic heart or lung disease. Thus, a high index of suspicion is needed to identify pulmonary emboli. Laboratory parameters, including arterial oxygen tensions and electrocardiography, are as nonspecific as the clinical signs. They may be more useful in excluding another process than in diagnosing pulmonary embolism. The first radiologic examination is the chest radiograph, but the clinical symptoms are frequently out of proportion to the findings on the chest films. Classic manifestations of pulmonary embolism on the chest radiograph include a wedge-shaped peripheral opacity and a segmental or lobar diminution in vascularity with prominent central arteries. However, these findings are not commonly seen and, even when present, are not specific. Even less specific findings include cardiomegaly, pulmonary infiltrate, elevation of a hemidiaphragm, and pleural effusion. Many patients with pulmonary embolism may have a normal chest radiograph. The chest radiograph is essential, however, for two purposes. First, it may identify another cause of the patient's symptoms, such as a rib fracture, dissecting aortic aneurysm, or pneumothorax. Second, a chest radiograph is essential to interpretation of the radionuclide V/Q scan. The perfusion scan accurately reflects the perfusion of the lung. However, a perfusion defect may result from a variety of etiologies. Any process such as vascular stenosis or compression by tumor may restrict blood flow. 84 references.

  19. Pulmonary diagnostics.

    PubMed

    Donn, Steven M; Sinha, Sunil K

    2017-08-01

    Term infants with respiratory distress may have extremely varied etiologies of their illnesses. These range from anatomical malformations to infectious or inflammatory conditions to genetic, metabolic, or neurological abnormalities. This article reviews the present array of diagnostic studies available to the clinician, including the physical examination, imaging (radiography, computed tomography, magnetic resonance imaging, ultrasound, and nuclear scanning techniques), lung mechanics and function testing, evaluation of gas exchange (blood gases, pulse oximetry, transcutaneous monitoring, and end-tidal carbon monoxide measurements), and anatomical studies (bronchoscopy and lung biopsy). These tests and procedures are reviewed and a stepwise approach recommended. Copyright © 2017 Elsevier Ltd. All rights reserved.

  20. Isolated Anomalous Origin of Left Pulmonary Artery From the Descending Aorta: An Embryologic Ambiguity.

    PubMed

    Gnanappa, Ganesh Kumar; Laohachai, Karina; Orr, Yishay; Ayer, Julian

    2016-11-01

    Anomalous origin of a branch pulmonary artery from the aorta is a rare malformation, accounting for 0.12% of all congenital heart defects. Anomalous origin of the left pulmonary artery from the aorta (ALPA) constitutes a small proportion of these cases. ALPA has been reported to arise from the ascending aorta with various embryologic postulates. We report a case of isolated ALPA arising from the descending aorta in association with a patent ductus arteriosus, to emphasize its embryologic ambiguity.

  1. Pulmonary Cryptococcosis.

    PubMed

    Chang, C C; Sorrell, T C; Chen, S C-A

    2015-10-01

    Inhalation of Cryptococcus into the respiratory system is the main route of acquisition of human infection, yet pulmonary cryptococcosis goes mostly unrecognized by many clinicians. This delay in diagnosis, or misdiagnosis, of lung infections is due in part to frequently subtle clinical manifestations such as a subacute or chronic cough, a broad differential of diagnostic possibilities for associated pulmonary masses (cryptococcomas) and, on occasion, negative respiratory tract cultures. Hematogenous dissemination from the lung can result in protean manifestations, the most severe of which is meningoencephalitis. There are few clinical studies of pulmonary cryptococcosis and its pathogenesis is poorly understood. The main purpose of this review is to describe the epidemiology, clinical presentation, diagnosis, and treatment of pulmonary cryptococcosis to increase clinician's awareness of this diagnostic possibility and to enhance clinical management. Useful pointers to the approach and management of pulmonary cryptococcosis and the implications of disseminated disease are included, together with recommendations for future research. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  2. Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.

    PubMed

    Larralde, Margarita; Abad, María Eugenia; Luna, Paula Carolina; Hoffner, Mariana Viktoria

    2014-04-01

    Capillary malformation-arteriovenous malformation (CM-AVM) is a recently described autosomal dominant disorder that results from mutations in RASA1. It has been initially described as multiple CMs affecting several members of the same family, associated with fast-flow malformations in at least one family member. To report and analyze clinical data on 45 patients with CM-AVM assessed at the Department of Pediatric Dermatology, Ramos Mejía Hospital (Buenos Aires, Argentina). Retrospective clinical review of all the patients clinically diagnosed as having CM-AVM over a period of eight years. Forty-five patients were recorded (24 females and 21 males). The age ranged from one month to 44 years. In 36 patients, the stains were congenital; progressive acquired lesions were observed in 39. Family history was positive in 32 subjects. Well defined, round to oval, pink-purple or reddish-brown macules were found in all the patients; pinpoint red lesions with a pale halo were found in nine cases. The macules were warmer than normal skin in 15 cases and surrounded by a white halo in 26 cases. Three subjects presented associated overgrowth, lymphatic malformation was present in one case, retinal vascular lesion in one patient, and isolated port wine stain in two cases. Three patients also had infantile hemangioma. We had no cases of fast-flow vascular malformation or combined vascular syndromes. CM-AVM is a heterogeneous disorder with phenotypic variability, from fast-flow malformation, limb enlargement, or Parkes Weber syndrome to multiple CMs without internal involvement. © 2013 The International Society of Dermatology.

  3. Pulmonary Vascular Impedance in Chronic Pulmonary Hypertension.

    DTIC Science & Technology

    PULMONARY HYPERTENSION , *PULMONARY BLOOD CIRCULATION, BLOOD CIRCULATION, LUNG, PATHOLOGY, VASCULAR DISEASES, ARTERIES, OBSTRUCTION(PHYSIOLOGY...EMBOLISM, HISTOLOGY, DOGS, LABORATORY ANIMALS, BLOOD PRESSURE , EXPERIMENTAL DATA, PHYSIOLOGY.

  4. Extracranial vascular malformations (hemangiomas and vascular malformations) in children and adolescents – diagnosis, clinic, and therapy

    PubMed Central

    Eivazi, Behfar; Werner, Jochen A.

    2014-01-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be

  5. Chiari Type I malformation presenting with bilateral hearing loss.

    PubMed

    Dolgun, Habibullah; Turkoglu, Erhan; Kertmen, Hayri; Yilmaz, Erdal R; Sekerci, Zeki

    2009-09-01

    Chiari Type I malformations can present with several clinical signs and symptoms. We describe a 44-year-old female patient presenting with bilateral hearing loss with hydrocephalus coexisting with Chiari Type I malformation and a unilateral arachnoid cyst. Thus, sensorineural hearing loss may be caused by hydrocephalus with Chiari Type I malformation. The placement of a ventriculoperitoneal shunt without a posterior fossa decompression is an effective treatment.

  6. Hemangiomas and Vascular Malformations: Current Theory and Management

    PubMed Central

    Richter, Gresham T.; Friedman, Adva B.

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

  7. [Diagnosis of fetal malformations with ultrasound--state of development].

    PubMed

    Fendel, M; Fendel, H

    1983-01-01

    Ultrasonography is of great importance for the prenatal diagnosis of fetal malformations and abnormalities. An early diagnosis in the second trimester is of great interest for an intrauterine or an extrauterine therapy planning (the choice of the time and mode of delivery). Defects of the neural tube including hydrocephalus, malformations of the extremities, the gastrointestinal tract, omphaloceles, the urogenital and cardiac system are described. Four cases of fetal malformations are presented: fetal myelomeningocele, hydrocephalus, bilateral hydronephrosis and lymphangioma with fetal ascites.

  8. [Rare case of bilateral pulmonary agenesis and prenatal diagnosis].

    PubMed

    Veluppillai, C; Jossic, F; Quéré, M-P; Philippe, H-J; Le Vaillant, C

    2014-01-01

    Bilateral pulmonary agenesis (BPA) is a rare congenital lung malformation. The prognosis is severe as it is incompatible with extra-uterine life. Although multiple prenatal imaging modalities are developed, the prenatal diagnosis of BPA remains problematic. We report a case of BPA observed in our unity and for which the diagnosis was not clearly identified during the evaluation. This report illustrates the need to consider all the imaging aspects and particularly during US examination suspecting BPA.

  9. Neurogenic pulmonary edema: successful treatment with IV phentolamine.

    PubMed

    Davison, Danielle L; Chawla, Lakhmir S; Selassie, Leelie; Tevar, Rahul; Junker, Christopher; Seneff, Michael G

    2012-03-01

    Neurogenic pulmonary edema (NPE) is a clinical syndrome characterized by the acute onset of pulmonary edema following a significant CNS insult. The cause is believed to be a surge of catecholamines that results in cardiopulmonary dysfunction. Although there are myriad case reports describing CNS events that are associated with this syndrome, few studies have identified specific treatment modalities. We present a case of NPE caused by an intracranial hemorrhage from a ruptured arteriovenous malformation. We uniquely document a rise and fall of serum catecholamine levels correlating with disease activity and a dramatic clinical response to IV phentolamine.

  10. Notch receptor expression in human brain arteriovenous malformations.

    PubMed

    Hill-Felberg, Sandra; Wu, Hope Hueizhi; Toms, Steven A; Dehdashti, Amir R

    2015-08-01

    The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations development has been unknown. In this study, we performed immunohistochemistry screening on tissue microarrays containing eight surgically resected human brain arteriovenous malformations and 10 control surgical epilepsy samples. The tissue microarrays were evaluated for Notch 1-4 expression. We have found that compared to normal brain vascular tissue Notch-3 was dramatically increased in brain arteriovenous malformations. Similarly, Notch 4 labelling was also increased in vascular malformations and was confirmed by western blot analysis. Notch 2 was not detectable in any of the human vessels analysed. Using both immunohistochemistry on microarrays and western blot analysis, we have found that Notch-1 expression was detectable in control vessels, and discovered a significant decrease of Notch 1 expression in vascular malformations. We have demonstrated that Notch 3 and 4, and not Notch 1, were highly increased in human arteriovenous malformations. Our findings suggested that Notch 4, and more importantly, Notch 3, may play a role in the development and pathobiology of human arteriovenous malformations.

  11. Associated malformations among infants with anophthalmia and microphthalmia.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2012-03-01

    Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

  12. Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

    PubMed

    Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

    2017-06-01

    The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p < 0.05). No significant difference was found in the rate of superficial peritoneal endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

  13. Anomalous Origin of the Left Pulmonary Artery: Hemi-Truncus Arteriosus

    PubMed Central

    Shakir, Mariam; Ariff, Shabina; Ali, Rehan; Hassan, Babar

    2017-01-01

    Hemi-truncus arteriosus is a rare congenital cardiovascular malformation. It usually presents in infancy and leads to development of progressive pulmonary vascular disease, heart failure, and death. We report a case of hemi truncus arteriosus in a 12-day-old neonate who was successfully managed at our institute. PMID:28401036

  14. Rare Anomalous Origin of Superior Left Pulmonary Artery from Left Subclavian Vein

    SciTech Connect

    Lv, Tian-shi Wang, Chao Song, Li Lv, Yong-xing Zou, Ying-hua

    2013-10-15

    We report for the first time an extremely rare anomalous origin of the superior left pulmonary artery in a 60 year-old man. Although it was occult in clinical indications, such a malformation still ought to be considered, especially during endovascular procedures.

  15. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  16. Somatic Mutations in Cerebral Cortical Malformations

    PubMed Central

    Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A.

    2014-01-01

    BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. RESULTS Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. CONCLUSIONS Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.) PMID:25140959

  17. BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN

    PubMed Central

    Leblanc, Gabrielle G.; Golanov, Eugene; Awad, Issam A.; Young, William L.

    2009-01-01

    Background and Purpose This review discusses recent research on the genetic, molecular, cellular, and developmental mechanisms underlying the etiology of vascular malformations of the brain (VMBs), including cerebral cavernous malformation (CCM), sporadic brain arteriovenous malformation (AVM), and the AVMs of hereditary hemorrhagic telangiectasia (HHT). Summary of Review The identification of gene mutations and genetic risk factors associated with CCM, HHT, and sporadic AVM has enabled the development of animal models for these diseases and provided new insights into their etiology. All of the genes associated with VMBs to date have known or plausible roles in angiogenesis and vascular remodeling. Recent work suggests that the angiogenic process most severely disrupted by VMB gene mutation is that of vascular stabilization, the process whereby vascular endothelial cells form capillary tubes, strengthen their intercellular junctions, and recruit smooth muscle cells to the vessel wall. In addition, there is now good evidence that in some cases CCM lesion formation involves a genetic two-hit mechanism, in which a germline mutation in one copy of a CCM gene is followed by a somatic mutation in the other copy. There is also increasing evidence that environmental second hits can produce lesions when there is a mutation to a single allele of a VMB gene. Conclusions Recent findings begin to explain how mutations in VMB genes render vessels vulnerable to rupture when challenged with other inauspicious genetic or environmental factors, and have suggested candidate therapeutics. Understanding of the cellular mechanisms of VMB formation and progression in humans has lagged behind that in animal models. New knowledge of lesion biology will spur new translational work. Several well-established clinical and genetic database efforts are already in place, and further progress will be facilitated by collaborative expansion and standardization of these. PMID:19834013

  18. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  19. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.

    PubMed

    Hershkovitz, D; Bercovich, D; Sprecher, E; Lapidot, M

    2008-05-01

    Capillary malformation (CM), a common vascular abnormality, is often present among family members. Recently a rare form of hereditary vascular malformation termed capillary malformation-arteriovenous malformation (CM-AVM) was shown to be caused by heterozygous mutations in RASA1, encoding RAS p21 protein activator 1. CM-AVM is characterized by multiple, small CMs associated with either AVM or arteriovenous fistula (AVF) in affected individuals or at least one of their family members. The purpose of the study was to find out whether CMs in the absence of AVM/AVF are associated with RASA1 mutations. We assessed three families comprising 14 affected individuals with CMs. Linkage to the RASA1 locus was evaluated using microsatellite markers. The RASA1 gene was scrutinized for pathogenic mutations using denaturing high-performance liquid chromatography screening and direct sequencing. AVM/AVF was identified in one of three affected families. CM without AVM/AVF was found to map in one large kindred to the RASA1 locus. Direct sequencing revealed novel heterozygous mutations segregating with CM in all three families. The mutations are predicted to result in premature termination of translation and RASA1 haplo-insufficiency. We have demonstrated that the spectrum of clinical manifestations due to mutations in RASA1 is wider than previously thought and also includes typical CMs not associated with AVM/AVF.

  20. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  1. Arteriovenous malformations: a diagnostic and therapeutic challenge.

    PubMed

    de Miguel, R; López-Gutierrez, J C; Boixeda, P

    2014-05-01

    Many dermatologists are largely unfamiliar with arteriovenous malformations (AVMs). This is partly due to the low prevalence of these lesions and to the fact that they are generally managed by other specialists, in particular, interventional radiologists and pediatric, maxillofacial, and plastic surgeons. In this article, we review the recommended nomenclature for AVMs and look at their clinical manifestations and diagnosis, as well as the ideal type and time of treatment. AVMs should be managed from a multidisciplinary approach, and the dermatologist's primary goal should be to make a proper diagnosis and thereby avoid unnecessary treatments. Copyright © 2012 Elsevier España, S.L. and AEDV. All rights reserved.

  2. [Recurrent meningitis in inner ear malformations].

    PubMed

    Claros, Pedro; Matusialk, Monika

    2008-01-01

    Authors present two cases of children with reccurent meningitis and unilateral deafness. Implemented diagnostics (CT, NMR, ABR) revealed one side inner ear congenital malformation in one case and anterior fossa bony defect accompanied by labirynthine deformation in the other case. The presence of perilymphatic fistulae in oval and round windows and cerebrospinal fluid leakage has been confirmed in both cases during surgery. Carefull obliteration of the Eustachian tube and both windows has been performed. Non- complicated postoperative course (2 months and 6 years - respectively) has prooved the effectiveness of applied treatment.

  3. Congenital malformations of the temporal bone.

    PubMed

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  4. Pediatric aneurysms and vein of Galen malformations

    PubMed Central

    Rao, V. R. K.; Mathuriya, S. N.

    2011-01-01

    Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist. PMID:22069420

  5. PULMONARY TOXICOLOGY

    EPA Science Inventory

    Pulmonary disease and dysfunction exact a tremendous health burden on society. In a recent survey of lung disease published by the American Lung Association in 2012, upwards of 10 million Americans were diagnosed with chronic bronchitis while over 4 million Americans had emphysem...

  6. PULMONARY TOXICOLOGY

    EPA Science Inventory

    Pulmonary disease and dysfunction exact a tremendous health burden on society. In a recent survey of lung disease published by the American Lung Association in 2012, upwards of 10 million Americans were diagnosed with chronic bronchitis while over 4 million Americans had emphysem...

  7. CONGENITAL HEART MALFORMATIONS IN NEWBORN BABIES WITH LOW BIRTH WEIGHT.

    PubMed

    Luca, Alina-Costina; Holoc, Andreea-Simona; Iordache, C

    2015-01-01

    Congenital heart malformations represent a public health problem, holding a significant percentage of the total of heart diseases. Beside the elevated frequency of the malformations, we also notice their occurrence in newborn babies with low birth weight, increasing, thus, the risk of complications and late therapeutic approach. The goal of the study was to highlight the general and particular aspects of cardiovascular malformations epidemiology in newborn babies with low weight at birth, the correlation of the malformations with implied genetic and environmental factors, assessing the complications and their procedures on the therapeutic management. Our study was performed on a group of 271 patients, hospitalized in the Department of Pediatric Cardiology of "Sf. Maria" Emergency Clinical Hospital for Children of Iasi, during January 2011-December 2013. The patients were assessed based on anamnesis, clinical, biological and imagistic exam. The study lot was divided according to the type of the structural defect: 95% of the patients were diagnosed with non-cyanogenic congenital heart malformations and 5% with cyanogenic congenital heart malformations. Regarding the patient's origin background, we notice an elevated frequency of the rural environment (71%). The incidence of the malformations was high in premature low birth weight (48%), followed by premature very low birth weight (22%). In evolution, congenital heart malformations often get more complicated heart failure, arterial hypertension and respiratory infections being most often met. Mortality was maximum in the first year of life, a third of the cases being associated with chromosomal malformations. Congenital heart malformations in newborn patients with low weight at birth represented an elevated percentage of 44.13% of the total of the cases hospitalized for cardiovascular diseases from the Department of Pediatric Cardiology of Iasi. Many cases were associated with other congenital malformations or

  8. Intralesional laser therapy for vascular malformations.

    PubMed

    Ma, Linda W; Levi, Benjamin; Oppenheimer, Adam J; Kasten, Steven J

    2014-11-01

    Intralesional laser therapy for the treatment of vascular malformations (VMs) has been previously reported for select patient populations. Larger studies, over a wider variety of indications, are needed to better define the potential role of this technology. In the current study, a 12-year, retrospective review of 44 patients who underwent 73 intralesional Nd:YAG or diode laser treatments of VMs was performed. The most commonly encountered lesions were venous malformations (66%) and the most commonly involved anatomic locations were the head and neck regions (41%) and lower extremity (39%). Primary indications for treatment were enlargement (73%) and pain (52%). Lesion size was reduced in 94% of cases after treatment and pain was improved in 91% of cases. Minor postoperative complications occurred in 16 (36%) patients. There was no difference in treatment response among various VM subtypes or anatomic locations (P=0.497, P=0.866) or in the incidence of complications (P=0.531, P=0.348). Age was the only factor associated with an increased risk of complications (odds ratio, 1.034; P=0.038). When used in accordance with the suggested guidelines, intralesional laser therapy is a safe and effective treatment modality for VMs of varying compositions and locations.

  9. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  10. Molecular diagnosis in cerebral cavernous malformations.

    PubMed

    Mondejar, R; Lucas, M

    2017-10-01

    Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%. Familial CCM is an autosomal dominant disease with incomplete clinical and radiological penetrance. Three genes have been linked to development of the lesions: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. The aetiological mutation is not detected in a large percentage of cases and new approaches are therefore needed. The aim of this review is to analyse current molecular techniques and the possible mutations or variations which can be detected in a molecular genetics or molecular biology laboratory. Likewise, we will analyse other alternatives that may help detect mutations in those patients showing negative results. A molecular diagnosis of cerebral cavernous malformations should provide at least the copy number variation and sequencing of CCM genes. In addition, appropriate genetic counselling is a crucial source of information and support for patients and their relatives. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Sirenomelia and caudal malformations in two families.

    PubMed

    Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte

    2012-07-01

    We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans.

  12. Stenogyria - not only in Chiari II malformation.

    PubMed

    Bekiesinska-Figatowska, Monika; Duczkowska, Agnieszka; Brągoszewska, Hanna; Duczkowski, Marek; Mierzewska, Hanna

    2014-12-15

    Stenogyria, meaning multiple small compacted gyri separated by shallow sulci, is reported in the literature in association with Chiari II malformation (CM II) which in turn is reported in association with myelomeningocele (MMC). The authors present five cases of stenogyria (and other abnormalities found in CM II, like callosal hypoplasia/dysplasia, agenesis of the anterior commissure, hypoplasia of the falx cerebri) in children without the history of MMC or any other form of open spinal dysraphism. In these cases stenogyria was associated with Chiari I malformation, rhombencephalosynapsis and spina bifida. Stenogyria, which is not a true neuronal migration disorder, should not be mistaken for polymicrogyria which is also present in CM II. It is histologically different from polymicrogyria because the cortex is normally organized. Also on MRI, the general sulcal pattern is preserved in stenogyria, while it is completely distorted in polymicrogyria. The authors conclude that features traditionally attributed to CM II, like stenogyria, occur not only in the population of patients with MMC as opposed to the widely accepted theory.

  13. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  14. Variations of some elements in cadmium-induced malformed fish

    SciTech Connect

    Muramoto, S.

    1981-08-01

    Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.

  15. Klippel-Feil syndrome and Dandy-Walker malformation.

    PubMed

    Karaman, A; Kahveci, H

    2011-01-01

    The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation.

  16. Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus.

    PubMed

    Whipple, Katherine M; Godfrey, Kyle J; Solomon, James P; Lin, Jonathan H; Korn, Bobby S; Kikkawa, Don O

    Glomuvenous malformations (GVMs), previously referred to as glomus tumors or glomangiomas, are benign, mesenchymal venous malformations arising from glomus bodies. Glomus bodies are modified smooth muscle neuromyoarterial structures involved in temperature regulation via blood shunting. These classically occur in the digits but can occur in other locations. The authors present a case of a periorbital GVM presented following blunt trauma to the area.

  17. Congenital plaque-type glomuvenous malformation associated with chylous ascites.

    PubMed

    Tejedor, Maria; Martín-Santiago, Ana; Gómez, Cristina; Fiol, Miquel; Benítez-Segura, Ignacio

    2010-01-01

    Congenital plaque-type glomuvenous malformation (GVM) is caused by loss of function mutations in glomulin gene. We report a newborn with this rare vascular disorder associated with chylous ascites. The common mesenchymal origin of GVM and lymphatic vessels as well as the glomulin expression in vascular smooth muscle cells in utero could help explain this unusual prenatal complication of glomuvenous malformations.

  18. [The progress of inner ear malformation in radiological research].

    PubMed

    Kong, Dehua; Fu, Kuang; Zhao, Hui

    2016-01-01

    Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.

  19. Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.

    PubMed

    Buell, Thomas J; Heiss, John D; Oldfield, Edward H

    2015-10-01

    This article summarizes the current understanding of the pathophysiology of the Chiari I malformation that is based on observations of the anatomy visualized by modern imaging with MRI and prospective studies of the physiology of patients before and after surgery. The pathogenesis of a Chiari I malformation of the cerebellar tonsils is grouped into 4 general mechanisms.

  20. Perirectal arteriovenous malformation treated by angioembolization and low anterior resection.

    PubMed

    Pierce, James; Matthews, Jamil; Stanley, Philip; Panossian, Andre; Ford, Henri; Anselmo, Dean

    2010-07-01

    We present a case of a child with ongoing lower gastrointestinal bleeding caused by a rectosigmoid arteriovenous malformation. To reduce perioperative bleeding, we performed preoperative angioembolization followed by subsequent resection by low anterior resection. Here we present the case and review the literature regarding neoadjuvent embolization for gastrointestinal and pelvic arteriovenous malformations. Copyright 2010 Elsevier Inc. All rights reserved.

  1. Malformations of cortical development: genetic mechanisms and diagnostic approach

    PubMed Central

    2017-01-01

    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development. PMID:28203254

  2. [Cochlear implant for malformations of the inner ear].

    PubMed

    Aschendorff, A; Laszig, R; Maier, W; Beck, R; Schild, C; Birkenhäger, R; Wesarg, T; Kröger, S; Arndt, S

    2009-06-01

    The radiologic evaluation of the temporal bone in cochlear implant candidates can detect malformations of the inner ear in up to 20% of cases. The aim of our study was to analyze and classify malformations of the inner ear in patients with cochlear implants carried out from 2001 to 2009. Malformations of the inner ear, including malformations of the internal auditory canal were detected in 12.7% of children and 3.4% of adults. Mondini dysplasia was most common and occurred in 45% of cases. The surgical procedure had to be adapted according to the individual malformation. Modification of surgical access, management of intraoperative CSF gusher, choice of electrode array, intraoperative imaging and the use of navigation were the most important factors. Rehabilitation results were generally very positive and corresponded to the expectation depending on the duration of deafness, if no additional handicaps were present.

  3. Venous malformations: classification, development, diagnosis, and interventional radiologic management.

    PubMed

    Legiehn, Gerald M; Heran, Manraj K S

    2008-05-01

    Venous malformations are categorized as low-flow vascular malformations within the domain of vascular anomalies and are the most common vascular malformation encountered clinically. Venous malformations are by definition present at birth, undergo pari passu growth, and present clinically because of symptoms related to mass effect or stasis. Although diagnosis can usually be made by clinical history and examination, differentiation from other vascular and nonvascular entities often requires an imaging work-up that includes ultrasound, CT, MR imaging, and diagnostic phlebography. All decisions regarding imaging work-up and decision to treat must be coordinated though referral and discussions with a multidisciplinary team and be based on clearly defined clinical indications. Percutaneous image-guided sclerotherapy has become the mainstay of treatment for venous malformations and involves the introduction of any one of a number of endothelial-cidal sclerosants into the vascular spaces of the lesion, with each sclerosant possessing its own unique spectrum of advantages and disadvantages.

  4. Malformations of cortical development: genetic mechanisms and diagnostic approach.

    PubMed

    Lee, Jeehun

    2017-01-01

    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.

  5. Congenital malformations of the central nervous system: clinical approach.

    PubMed

    Hadzagić-Catibusić, Feriha; Maksić, Hajrija; Uzicanin, Sajra; Heljić, Suada; Zubcević, Smail; Merhemić, Zulejha; Cengić, Adisa; Kulenović, Edina

    2008-11-01

    Central nervous system (CNS) malformations represent important factor of morbidity and mortality in children. The aim of the study was to determine the incidence, type and clinical features of CNS malformations in children who were admitted at the Neonatal and Child Neurology Department, Neonatal Intensive Care Unit and Paediatric Intensive Care Unit of Paediatric Clinic, University of Sarajevo Clinics Centre, from January 1st, 2002 to December 31st, 2006. There were total of 16520 admissions at the Paediatric Clinic over the studied period. CNS malformations, solitary or multiple, have been diagnosed in 100 patients (0,61%). The total number of various CNS malformations was 127. Lethal outcome was established in 9/100 cases (9%). The most frequent CNS malformations were neural tube defects 49/127 (38,6%). Hydrocephalus was seen in 34/127 (26,8%), microcephaly in 24/127 (18,9%), agenesis of corpus callosum in 10/127 (7,9%), Dandy Walker malformation in 6/127 (4,7%) and other CNS malformations in 4/127 (3,1%). In 20/100 of patients neural tube defect was associated with hydrocephalus (20%). CNS malformations were prenatally diagnosed in 13/100 of patients (13%). Primary prevention of CNS malformations can be improved in our country by better implementation of preconceptional folic acid therapy for all women of childbearing age. Secondary prevention by prenatal diagnosis requires advanced technical equipment and adequate education of physicians in the field of foetal ultrasonography. In our circumstances, prenatal diagnostics of CNS malformations is still not developed enough.

  6. Giant pulmonary bulla with mediastinal shift in a 12 1/2 year old girl.

    PubMed

    Fatimi, Saulat Hasnain; Jafferani, Asif; Ashfaq, Awais

    2012-05-01

    Pulmonary bulla in children represent interesting entities. Mostly congenital bronchopulmonary foregut malformations and acquired cysts like pneumatocoeles have also been described. We present a case of a 12 1/2 years old girl with acute onset respiratory distress symptoms harbouring a huge pulmonary cyst exhibiting mass effects, resulting in mediastinal deviation. Following initial workup, cyst excision was carried out which revealed presence of fungal hyphae that was susceptible to Fluconazole therapy post operatively. The case points out how a pulmonary cyst can present in older children with symptoms of respiratory distress and mass effects.

  7. Gynecologic anatomic abnormalities following anorectal malformations repair.

    PubMed

    Vilanova-Sanchez, Alejandra; Reck, Carlos A; McCracken, Kate A; Lane, Victoria A; Gasior, Alessandra C; Wood, Richard J; Levitt, Marc A; Hewitt, Geri D

    2017-07-24

    Patients may present with gynecologic concerns after previous posterior sagittal anorectoplasty (PSARP) for repair of an anorectal malformation (ARM). Common findings include an inadequate or shortened perineal body, as well as introital stenosis, retained vaginal septum, and remnant rectovestibular fistula. An inadequate or shortened perineal body may impact fecal continence, sexual function and recommendations regarding obstetrical mode of delivery. We describe our experience with female patients referred to our center for evaluation of their previously repaired ARM, with a specific focus on perineal body anatomy and concomitant gynecologic abnormalities. We outline our collaborative evaluation process and findings as well as subsequent repair and outcomes. A single site retrospective chart review from May 2014 to May 2016 was performed. Female patients with a history of prior ARM repair who required subsequent reoperative surgical repair with perineoplasty were included. The decision for reoperation was made collaboratively after a multidisciplinary evaluation by colorectal surgery, urology, and gynecology which included examination under anesthesia (EUA) with cystoscopy, vaginoscopy, rectal examination, and electrical stimulation of anal sphincters. The type of original malformation, indication for reoperative perineoplasty, findings leading to additional procedures performed at time of perineoplasty, postoperative complications, and the length of follow up were recorded. During the study period 28 patients were referred for evaluation after primary ARM repair elsewhere and 15 patients (60%) met inclusion criteria. Thirteen patients (86.6%) originally had a rectovestibular fistula with prior PSARP and 2 patients (13.4%) originally had a cloacal malformation with prior posterior sagittal anorectovaginourethroplasty. The mean age at the time of the subsequent perineoplasty was 4.6years (0.5-12). Patients had an inadequate perineal body requiring reoperative

  8. [Isolated agenesis of the pulmonary valve in the adult. When is the proper time for surgery?].

    PubMed

    Rangel-Abundis, A; Chávez-Pérez, E; Badui, E; García, P; Enciso, R; Sánchez Moreira, L M; Zamora, C; Marín, G

    1993-01-01

    The congenital absence of the pulmonary valves is a rare malformation that mainly affects children, frequently is associated with other cardiac malformations and very rarely is present in adults. Elective or urgent surgery is indicated in the symptomatic child; on the other hand, surgical treatment in the asymptomatic adult with this anomaly is controversial. Based on the reported experience in the literature, in the present article, the authors discuss the therapeutic approach of an asymptomatic 22-year-old male with pulmonary valvular absence with practically no hemodynamic repercussion. Although there had been few reported cases of isolated pulmonary valvular absence, the authors concluded that surgery is not a satisfactory solution and that it might be postponed to the time that patients develop congestive heart failure and or respiratory insufficiency. In order to detect that on time, we recommend a follow up based on periodic echocardiographic studies.

  9. Pulmonary Hypertension

    PubMed Central

    Kim, John S.; McSweeney, Julia; Lee, Joanne; Ivy, Dunbar

    2015-01-01

    Objective Review the pharmacologic treatment options for pulmonary arterial hypertension (PAH) in the cardiac intensive care setting and summarize the most-recent literature supporting these therapies. Data Sources and Study Selection Literature search for prospective studies, retrospective analyses, and case reports evaluating the safety and efficacy of PAH therapies. Data Extraction Mechanisms of action and pharmacokinetics, treatment recommendations, safety considerations, and outcomes for specific medical therapies. Data Synthesis Specific targeted therapies developed for the treatment of adult patients with PAH have been applied for the benefit of children with PAH. With the exception of inhaled nitric oxide, there are no PAH medications approved for children in the US by the FDA. Unfortunately, data on treatment strategies in children with PAH are limited by the small number of randomized controlled clinical trials evaluating the safety and efficacy of specific treatments. The treatment options for PAH in children focus on endothelial-based pathways. Calcium channel blockers are recommended for use in a very small, select group of children who are responsive to vasoreactivity testing at cardiac catheterization. Phosphodiesterase type 5 inhibitor therapy is the most-commonly recommended oral treatment option in children with PAH. Prostacyclins provide adjunctive therapy for the treatment of PAH as infusions (intravenous and subcutaneous) and inhalation agents. Inhaled nitric oxide is the first line vasodilator therapy in persistent pulmonary hypertension of the newborn, and is commonly used in the treatment of PAH in the Intensive Care Unit (ICU). Endothelin receptor antagonists have been shown to improve exercise tolerance and survival in adult patients with PAH. Soluble Guanylate Cyclase Stimulators are the first drug class to be FDA approved for the treatment of chronic thromboembolic pulmonary hypertension. Conclusions Literature and data supporting the

  10. Ambient air pollution and cardiovascular malformations in Atlanta, Georgia, 1986-2003.

    PubMed

    Strickland, Matthew J; Klein, Mitchel; Correa, Adolfo; Reller, Mark D; Mahle, William T; Riehle-Colarusso, Tiffany J; Botto, Lorenzo D; Flanders, W Dana; Mulholland, James A; Siffel, Csaba; Marcus, Michele; Tolbert, Paige E

    2009-04-15

    Associations between ambient air pollution levels during weeks 3-7 of pregnancy and risks of cardiovascular malformations were investigated among the cohort of pregnancies reaching at least 20 weeks' gestation that were conceived during January 1, 1986-March 12, 2003, in Atlanta, Georgia. Surveillance records obtained from the Metropolitan Atlanta Congenital Defects Program, which conducts active, population-based surveillance on this cohort, were reviewed to classify cardiovascular malformations. Ambient 8-hour maximum ozone and 24-hour average carbon monoxide, nitrogen dioxide, particulate matter with an average aerodynamic diameter of <10 microm (PM(10)), and sulfur dioxide measurements were obtained from centrally located stationary monitors. Temporal associations between these pollutants and daily risks of secundum atrial septal defect, aortic coarctation, hypoplastic left heart syndrome, patent ductus arteriosus, valvar pulmonary stenosis, tetralogy of Fallot, transposition of the great arteries, muscular ventricular septal defect, perimembranous ventricular septal defect, conotruncal defects, left ventricular outflow tract defect, and right ventricular outflow defect were modeled by using Poisson generalized linear models. A statistically significant association was observed between PM(10) and patent ductus arteriosus (for an interquartile range increase in PM(10) levels, risk ratio = 1.60, 95% confidence interval: 1.11, 2.31). Of the 60 associations examined in the primary analysis, no other significant associations were observed.

  11. Reducing Jagged 1 and 2 levels prevents cerebral arteriovenous malformations in matrix Gla protein deficiency.

    PubMed

    Yao, Yucheng; Yao, Jiayi; Radparvar, Melina; Blazquez-Medela, Ana M; Guihard, Pierre J; Jumabay, Medet; Boström, Kristina I

    2013-11-19

    Cerebral arteriovenous malformations (AVMs) are common vascular malformations, which may result in hemorrhagic strokes and neurological deficits. Bone morphogenetic protein (BMP) and Notch signaling are both involved in the development of cerebral AVMs, but the cross-talk between the two signaling pathways is poorly understood. Here, we show that deficiency of matrix Gla protein (MGP), a BMP inhibitor, causes induction of Notch ligands, dysregulation of endothelial differentiation, and the development of cerebral AVMs in MGP null (Mgp(-/-)) mice. Increased BMP activity due to the lack of MGP induces expression of the activin receptor-like kinase 1, a BMP type I receptor, in cerebrovascular endothelium. Subsequent activation of activin receptor-like kinase 1 enhances expression of Notch ligands Jagged 1 and 2, which increases Notch activity and alters the expression of Ephrin B2 and Ephrin receptor B4, arterial and venous endothelial markers, respectively. Reducing the expression of Jagged 1 and 2 in the Mgp(-/-) mice by crossing them with Jagged 1 or 2 deficient mice reduces Notch activity, normalizes endothelial differentiation, and prevents cerebral AVMs, but not pulmonary or renal AVMs. Our results suggest that Notch signaling mediates and can modulate changes in BMP signaling that lead to cerebral AVMs.

  12. Ambient Air Pollution and Cardiovascular Malformations in Atlanta, Georgia, 1986–2003

    PubMed Central

    Klein, Mitchel; Correa, Adolfo; Reller, Mark D.; Mahle, William T.; Riehle-Colarusso, Tiffany J.; Botto, Lorenzo D.; Flanders, W. Dana; Mulholland, James A.; Siffel, Csaba; Marcus, Michele; Tolbert, Paige E.

    2009-01-01

    Associations between ambient air pollution levels during weeks 3–7 of pregnancy and risks of cardiovascular malformations were investigated among the cohort of pregnancies reaching at least 20 weeks’ gestation that were conceived during January 1, 1986–March 12, 2003, in Atlanta, Georgia. Surveillance records obtained from the Metropolitan Atlanta Congenital Defects Program, which conducts active, population-based surveillance on this cohort, were reviewed to classify cardiovascular malformations. Ambient 8-hour maximum ozone and 24-hour average carbon monoxide, nitrogen dioxide, particulate matter with an average aerodynamic diameter of <10 μm (PM10), and sulfur dioxide measurements were obtained from centrally located stationary monitors. Temporal associations between these pollutants and daily risks of secundum atrial septal defect, aortic coarctation, hypoplastic left heart syndrome, patent ductus arteriosus, valvar pulmonary stenosis, tetralogy of Fallot, transposition of the great arteries, muscular ventricular septal defect, perimembranous ventricular septal defect, conotruncal defects, left ventricular outflow tract defect, and right ventricular outflow defect were modeled by using Poisson generalized linear models. A statistically significant association was observed between PM10 and patent ductus arteriosus (for an interquartile range increase in PM10 levels, risk ratio = 1.60, 95% confidence interval: 1.11, 2.31). Of the 60 associations examined in the primary analysis, no other significant associations were observed. PMID:19258486

  13. Pulmonary Hypertension Overview

    MedlinePlus

    ... pulmonary hypertension usually limit a person’s ability to exercise and do other activities. CausesWhat causes pulmonary hypertension?Many things can cause pulmonary hypertension. However, sometimes ...

  14. Malformations and the Manx Syndrome in Cats

    PubMed Central

    DeForest, M. E.; Basrur, P. K.

    1979-01-01

    Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10. PMID:393376

  15. Small Rho-GTPases and cortical malformations

    PubMed Central

    2013-01-01

    Rho-GTPases have been found to be crucial for cytoskeleton remodelling and cell polarity, as well as key players in directed cell migration in various tissues and organs, therefore becoming good candidates for involvement in neuronal migration disorders. We recently found that genetic deletion of the small GTPase RhoA in the developing mouse cerebral cortex results in three distinct cortical malformations: a defect in the proliferation of progenitor cells during development that leads to a bigger cerebral cortex in the adult mouse, a change in the morphology of radial glial cells that results in the formation of a subcortical band heterotopia (SBH, also called Double Cortex) and an increase in the speed of migrating newborn neurons. The latter, together with the aberrant radial glial shape, is likely to be the cause of cobblestone lissencephaly, where neurons protrude beyond layer I at the pial surface of the brain. PMID:23524873

  16. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

    Bekina, A.; Garancis, V.; Rubins, U.; Spigulis, J.; Valeine, L.; Berzina, A.

    2013-11-01

    A variety of multi-spectral imaging devices is commercially available and used for skin diagnostics and monitoring; however, an alternative cost-efficient device can provide an advanced spectral analysis of skin. A compact multimodal device for diagnosis of pigmented skin lesions was developed and tested. A polarized LED light source illuminates the skin surface at four different wavelengths - blue (450 nm), green (545 nm), red (660 nm) and infrared (940 nm). Spectra of reflected light from the 25 mm wide skin spot are imaged by a CMOS sensor. Four spectral images are obtained for mapping of the main skin chromophores. The specific chromophore distribution differences between different skin malformations were analyzed and information of subcutaneous structures was consecutively extracted.

  17. Cerebral cavernous malformation proteins at a glance.

    PubMed

    Draheim, Kyle M; Fisher, Oriana S; Boggon, Titus J; Calderwood, David A

    2014-02-15

    Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs). These abnormalities are characterized by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The three CCM proteins can exist in a trimeric complex, and each of these essential multi-domain adaptor proteins also interacts with a range of signaling, cytoskeletal and adaptor proteins, presumably accounting for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis. In this Cell Science at a Glance article and the accompanying poster, we provide an overview of current models of CCM protein function focusing on how known protein-protein interactions might contribute to cellular phenotypes and highlighting gaps in our current understanding.

  18. Congenital malformations of the brain and spine.

    PubMed

    Shankar, Prashant; Zamora, Carlos; Castillo, Mauricio

    2016-01-01

    In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

  19. Seizure risk from cavernous or arteriovenous malformations

    PubMed Central

    Josephson, C.B.; Leach, J.-P.; Duncan, R.; Roberts, R.C.; Counsell, C.E.

    2011-01-01

    Objectives: To determine the risk of epileptic seizures due to a brain arteriovenous malformation (AVM) or cavernous malformation (CM). Methods: In a prospective population-based study of new diagnoses of AVMs (n = 229) or CMs (n = 139) in adults in Scotland in 1999–2003, we used annual medical records surveillance, general practitioner follow-up, and patient questionnaires to quantify the risk of seizures between clinical presentation and AVM/CM treatment, last follow-up, or death. Results: The 5-year risk of first-ever seizure after presentation was higher for AVMs presenting with intracranial hemorrhage or focal neurologic deficit (ICH/FND: n = 119; 23%, 95% confidence interval [CI] 9%–37%) than for incidental AVMs (n = 40; 8%, 95% CI 0%–20%), CMs presenting with ICH/FND (n = 38; 6%, 95% CI 0%–14%), or incidental CMs (n = 57; 4%, 95% CI 0%–10%). For adults who had never experienced ICH/FND, the 5-year risk of epilepsy after first-ever seizure was higher for CMs (n = 23; 94%, 95% CI 84%–100%) than AVMs (n = 37; 58%, 95% CI 40%–76%; p = 0.02). Among adults who never experienced ICH/FND and presented with or developed epilepsy, there was no difference in the proportions achieving 2-year seizure freedom over 5 years between AVMs (n = 43; 45%, 95% CI 20%–70%) and CMs (n = 35; 47%, 95% CI 27%–67%). Conclusions: AVM-related ICH confers a significantly higher risk of a first-ever seizure compared to CMs or incidental AVMs. Adults with a CM have a high risk of epilepsy after a first-ever seizure but achieve seizure freedom as frequently as those with epilepsy due to an AVM. PMID:21536634

  20. Temporary umbilical loop colostomy for anorectal malformations.

    PubMed

    Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon

    2012-11-01

    Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical

  1. Genetic Screening of Pediatric Cavernous Malformations.

    PubMed

    Merello, Elisa; Pavanello, Marco; Consales, Alessandro; Mascelli, Samantha; Raso, Alessandro; Accogli, Andrea; Cama, Armando; Valeria, Capra; De Marco, Patrizia

    2016-10-01

    Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries. A total of 9 typical pathogenic loss-of-function mutations were identified in 10 out 31 patients (32 %). The 75 % of familial cases were mutated and the percentage reached to 85 % when we consider only pediatric cases. Detection rate in sporadic cases with multiple lesions was considerably lower (16 %). We identified a novel variant of CCM3, the c.130-131insT (p.R45Efs*8), in 1 pediatric sporadic case with multiple lesions that introduced a premature termination codon into the messenger RNA (mRNA), most likely leading to mRNA decay. Similar to other CCM pediatric series, the main symptoms associated to clinical debut consisted of cerebral hemorrhage. In conclusion, the penetrance of CCM mutations in familial pediatric cases is high (85 %). The genetic workup could improve clinical and genetic counseling in CCM patients. Moreover, we confirmed the high risk of hemorrhage in children with CCMs.

  2. [Partial abnormal pulmonary venous return. An underestimated and unknown association in Turner-Ullrich syndrome. Presentation of an original case].

    PubMed

    Neel, G; Fournie, J M; Maillard, L; Rioux, P; Desveaux, B; Quilliet, L; Raynaud, P

    1991-11-01

    The authors report the case of a 59-year-old woman with a complex cardiac lesion consisting of degenerative major mitral insufficiency masking partial abnormal pulmonary venous return. These cardiac abnormalities fell within a context of genetic disease since the patient had Turner's syndrome, confirmed at the age of 58 by a 45 x 0 karyotype. They detail the originality of the clinical manifestations of partial abnormal pulmonary venous return and review the literature concerning cardiac malformations in Turner's syndrome.

  3. [Current treatment of lithiasis in congenital renoureteral malformations].

    PubMed

    Torrecilla Ortiz, C; Colom Feixas, S; Contreras García, J; Trilla Herrera, E; Arbelaez Arango, S; Serrallach Milá, N

    2001-11-01

    To evaluate the treatment of urinary calculi in renoureteral malformations. From April 1988 to December 2000, we have treated 158 patients with renoureteral malformations (36 horseshoe kidneys, 32 caliceal diverticula, 2 megacaliosis, 2 crossed renal ectopy, 3 polycystosis, 7 hydrocalyx, 24 complete duplex ureter, 18 incomplete duplex ureter, 22 ureterocele, 2 segmental megaureter). Renoureteral malformations were diagnosed in 158 of 19,000 patients that were treated in our stone unit from April 1988 and December 2000. Horseshoe kidney: 54% of the patients treated by ESWL are stone-free; PNL was performed in 2 patients and conventional surgery in another 2 patients. Caliceal diverticulum: 42% of the patients treated by ESWL are stone-free; 3 patients underwent conventional surgery. Other renal malformations: 62% of the patients treated by ESWL are stone-free. Ureteral malformations: duplex ureter and megaureter: 82% of the patients treated by ESWL are stone-free. Ureterocele: due to the poor results achieved by ESWL, we performed endoscopic transurethral meatotomy. These results indicate that ESWL alone can be considered to be the treatment of choice for small calculi in patients with renal malformations, although we consider it to be mandatory to perform individual assessment of the urinary tract and stone size in these patients in order to choose the best therapeutic option. The same criteria for the normal urinary tract can be applied in ureteral malformations except ureteroceles, for which we advocate performing endoscopic surgery for stone removal.

  4. Prevalence and timing of pregnancy termination for brain malformations.

    PubMed

    Rouleau, Caroline; Gasner, Adeline; Bigi, Nicole; Couture, Alain; Perez, Marie Josée; Blanchet, Patricia; Faure, Jean Michel; Rivier, François; Boulot, Pierre; Laquerrière, Annie; Encha-Razavi, Ferechté

    2011-09-01

    To determine the prevalence and the timing of pregnancy termination relative to the type of central nervous system (CNS) malformations. Design Retrospective cohort study. Multidisciplinary centre for prenatal diagnosis in the Languedoc-Roussillon region, France. A cohort of 481 pregnancy terminations performed between 2005 and 2009. Detailed post-termination fetal and neuropathological analyses were carried out to identify the CNS malformations. Then, the prevalence and timing of pregnancy termination were assessed relative to the identified malformations. About one-third of pregnancy terminations (143/481) were performed for severe CNS malformations. Up to 24 weeks of gestation (WG), pregnancy terminations (56.6%) were carried out mainly for defects occurring during the two major first steps of CNS development (neurulation and differentiation of cerebral vesicles). After 24 WG, pregnancy terminations (43.3%) were mainly performed for corpus callosum agenesis (16/17), vermian agenesis (10/12) and gyral anomalies (13/15). For hindbrain malformations and gyral anomalies, there was a significant relationship between the timing of pregnancy termination and the presence of a severe ventriculomegaly at prenatal diagnosis (p=0.002 and p=0.02, respectively). By classifying CNS malformations according to the neuropathological analysis, the authors show that the timing and prevalence of pregnancy termination are distributed in a manner that is consistent with what is currently known on the development of brain. They are also influenced by the French prenatal screening policy and the variable expressivity of the brain malformations and associated lesions.

  5. Outcome of cochlear implantation in children with cochlear malformations.

    PubMed

    Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

    2015-03-01

    The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended.

  6. [Imaging and audiology analysis of the congenital inner ear malformations].

    PubMed

    Zhou, Bao; Lin, Shaolian; Lin, Youhui; Fang, Zheming; Ye, Shengnan; Zhang, Rong

    2015-11-01

    To investigate imaging and audiology features of temporal bone and analyze the classification and prevalence of inner ear abnormalities in children with sensorineural hearing loss. Children who were diagnosed with sensorineural hearing loss were examined by high resolution CT and the inner ear fluid of MRI. And each chart was retrospectively reviewed to determine the imaging and audiology features. There were 125 patients(232 ears) found with inner ear malformation in 590 children with SNHL. About 21.71% of the inner ear malformation occurred in severe and profound hearing loss ears, and 12.85% occurred in r moderate hearing loss ears. The inner ear malformation rate in normal hearing ears were 13.59%. CT and MRI examinations of temporal bone are important diagnostic tools to indentify inner ear malformations. Inner ear malformations are almost bilateral and hearing loss are profoud. Cochleo-vestibular malformations and large vestibular aqueduct are the 2 most frequent deformities. Among the children with SNHL, deformity rate in the severe and profound hearing loss ears is higher than that in moderate hearing loss ear. Inner ear malformations can exist in people with normal hearing.

  7. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

    Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

  8. Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.

    PubMed

    Whitworth, James; Stausbøl-Grøn, Brian; Skytte, Anne-Bine

    2017-01-01

    When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Intracranial vascular pathologies (but not cerebral cavernous malformation) have recently been described in a number of individuals with BHD (Kapoor et al. in Fam Cancer 14:595-597, 10.1007/s10689-015-9807-y , 2015) but it is not yet clear whether they represent a genuine part of that conditions' phenotypic spectrum. We suggest that in such instances of potentially novel clinical features, more extensive genetic testing to consider co-existing conditions should be considered where available. The increased use of next generation sequencing applications in diagnostic settings is likely to lead more cases such as this being revealed.

  9. Refractory wheezing in Chinese children under 3 years of age: bronchial inflammation and airway malformation.

    PubMed

    Gu, Wenjing; Jiang, Wujun; Zhang, Xinxing; Chen, Zhengrong; Yan, Yongdong; Huang, Li; Wang, Meijuan; Shao, Xuejun; Wang, Shuhui; Ji, Wei

    2016-08-27

    Wheezing is a common symptom in early childhood. However, refractory wheezing is difficult to treat, and it may thus account for extensive use of medical resources. It is therefore important to improve our understanding of the pathophysiology of refractory childhood wheezing. In this descriptive study, we studied 156 children with refractory wheezing using fiberoptic bronchoscopy and bronchoalveolar lavage (BAL), and compared the results with a control group of 46 children with various pulmonary diseases but no wheezing. Etiology and cell classification were analyzed for each BAL sample. Overall, 21.8 % of children with refractory wheezing had airway malformations including tracheomalacia, airway stenosis, and tracheal bronchus. The incidence of airway malformations increased to 31 % in infants under 12 months of age. A significant increase in neutrophil ratio and decrease in macrophage ratio were observed in BAL from children with refractory wheezing compared with controls. Pathogen infection led to a higher ratio of neutrophils in the wheezing group compared with controls. However, there were no significant differences in neutrophil ratios among children with various pathogen infections. Furthermore, children with refractory wheezing had a high rate of Mycoplasma pneumoniae infection. Airway malformations might play an important role in children under 3 years of age with refractory wheezing, especially in infants under 12 months of age. Neutrophil-mediated airway inflammation was characteristic of refractory wheezing in children under 3 years of age. In addition, infections such as M. pneumoniae may aggravate airway inflammation and affect refractory wheezing.

  10. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort.

    PubMed

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-09-30

    To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Longitudinal study. Danish national birth cohort. Three groups of liveborn children and their mothers: 50,897 singletons and 1366 twins born of fertile couples (time to pregnancy < or = 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Prevalence of congenital malformations determined from hospital discharge diagnoses. Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations-hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination.

  11. Pulmonary artery sarcoma mimicking pulmonary thromboembolism.

    PubMed

    Celik, Gökhan; Ciledağ, Aydin; Yüksel, Cabir; Yenigün, Bülent Mustafa; Kutlay, Hakan; Yazicıoğlu, Levent; Perçinel, Sibel; Kaya, Akin

    2011-01-01

    A 30 years old male patient was referred to our hospital with a diagnosis of pulmonary thromboembolism due to thorax-computerized tomography (CT) angiography, revealing a thrombus totally occluding left main pulmonary artery. The lesion was evaluated as tumoural mass. Positron emission tomography (PET)-CT revealed pathologic uptake at pulmonary artery mass. Due to localization of tumour, left pneumonectomy was performed. The pathological diagnosis revealed to be pulmonary artery sarcoma. The patient was presented because pulmonary artery sarcomas are very rare tumors and can mimick pulmonary thromboembolism. The true prevalence is underestimated as many pulmonary artery sarcomas are misdiagnosed as pulmonary thromboembolism. PET-CT may help to make a differential diagnosis.

  12. [Pulmonary strongyloidiasis].

    PubMed

    Lozada, Heiler; Daza, Jorge E

    2016-10-01

    Strongyloidiasis is an infection caused by the parasite Strongyloides stercoralis, which can be asymptomatic and means a high morbidity and mortality in immunocompromised hosts, severe malnutrition and coinfection with HTLV-1 virus. The parasite has the potential to produce and multiply internal autoinfection in humans, thus an hyperinfection can be developed. A case of pulmonary infection by this parasite is presented in this study, infection which advanced into a respiratory failure and required mechanical ventilation and hemodynamic support in an intensive care unit. The standard treatment combined with ivermectin and albendazole was provided, achieving an appropriate response.

  13. Congenital malformations of the spinal cord without early symptoms.

    PubMed

    Moffie, D; Stefanko, S Z; Makkink, B

    1986-01-01

    Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory.

  14. Congenital inner ear malformations without sensorineural hearing loss in children.

    PubMed

    Ozeki, Michio; Kato, Zenichiro; Sasai, Hideo; Kubota, Kazuo; Funato, Michinori; Orii, Kenji; Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi

    2009-10-01

    Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

  15. Otosclerosis associated with type B-1 inner ear malformation.

    PubMed

    De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

    2010-06-01

    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.

  16. [Arteriovenous malformation-glioma association: study of four cases].

    PubMed

    Borges, Lia Raquel R; Malheiros, Suzana M F; Pelaez, Maria Paula; Stávale, João Norberto; Santos, Adrialdo J; Carrete, Henrique; Nogueira, Roberto Gomes; Ferraz, Fernando A P; Gabbai, Alberto A

    2003-06-01

    We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years) presented with progressive headache with clinical evidence of intracranial hypertension (in 3) and partial seizures (in 1). CT scan showed a brain tumor without any detectable pathologic vessels. Histologic examination revealed astrocytic tumors associated with arteriovenous malformation. No patient presented the vascular component intermixed with the tumor. The arteriovenous-glioma association is rare and must be identified by a clear demarcation between the malformation and the tumor.

  17. Anthelmintic induced congenital malformations in sheep embryos using netobimin.

    PubMed

    Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J

    1998-01-24

    Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.

  18. Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult

    PubMed Central

    Tansir, Ghazal; Sasmal, Gargi; Dixit, Juhi; Sahoo, Ratnakar

    2016-01-01

    Pulmonary agenesis is a rare congenital anomaly characterized by the absence of pulmonary parenchyma and vasculature. Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral agenesis is often associated with other congenital cardiovascular, genitourinary and gastrointestinal malformations. Right lung agenesis is more frequently associated with congenital anomalies and has poor prognosis as compared to left lung agenesis. Diagnosis is often made in childhood but can be delayed, if the clinician is not aware about this entity. Chest radiograph in unilateral lung agenesis shows opaque hemithorax and these patients are often confused with other common causes of opaque hemithorax like collapse, pleural effusion and diaphragmatic hernia. We report a case of left lung agenesis with right lung bronchiectasis in a middle-aged adult who was treated for tuberculous pleural effusion and was referred to our institute for persistent symptoms despite treatment. PMID:27790501

  19. Left Pulmonary Agenesis with Right Lung Bronchiectasis in an Adult.

    PubMed

    Kumar, Prabhat; Tansir, Ghazal; Sasmal, Gargi; Dixit, Juhi; Sahoo, Ratnakar

    2016-09-01

    Pulmonary agenesis is a rare congenital anomaly characterized by the absence of pulmonary parenchyma and vasculature. Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral agenesis is often associated with other congenital cardiovascular, genitourinary and gastrointestinal malformations. Right lung agenesis is more frequently associated with congenital anomalies and has poor prognosis as compared to left lung agenesis. Diagnosis is often made in childhood but can be delayed, if the clinician is not aware about this entity. Chest radiograph in unilateral lung agenesis shows opaque hemithorax and these patients are often confused with other common causes of opaque hemithorax like collapse, pleural effusion and diaphragmatic hernia. We report a case of left lung agenesis with right lung bronchiectasis in a middle-aged adult who was treated for tuberculous pleural effusion and was referred to our institute for persistent symptoms despite treatment.

  20. Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.

    PubMed

    Ríos-Méndez, Raúl Enrique; Lozano Chinga, Michell Marola

    2016-10-07

    Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.

  1. [Idiopathic pulmonary hemosiderosis with dendriform pulmonary ossification].

    PubMed

    Barrera, Ana Madeleine; Vargas, Leslie

    2016-12-01

    Pulmonary ossification is a rare and usually asymptomatic finding reported as incidental in lung biopsies. Similarly, idiopathic pulmonary hemosiderosis is a rare cause of pulmonary infiltrates. We report the case of a 64-year old man with chronic respiratory symptoms in whom these two histopathological findings converged.

  2. [Cerebral venous sinuses thrombosis in an infant with supramitral obstructive membrane associated with partial anomalous pulmonary venous return].

    PubMed

    Smilari, P; Romeo, M G; Sciacca, P; Scalzo, G; Gallo, C; Mattia, C; Manfrè, L; Distefano, G

    2005-04-01

    Cerebral venous thrombosis is quite rare in newborn infants, but probably its incidence is not well evaluated because clinical signs and cerebral echocardiography are not specific. We report the case of an newborn infant with massive cerebral venous thrombosis associated with heart malformation: supramitral ring and partial anomalous pulmonary venous connection in the superior vena cava.

  3. Abnormal origin of the left subclavian artery from the left pulmonary artery in a patient with double outlet right ventricle.

    PubMed

    Lee, Youngok; Hong, Seong Wook

    2014-02-01

    Anomalous aortic origin of the left subclavian artery (LSCA) from the left pulmonary artery (LPA) is a rare congenital cardiac malformation. We describe a case of LSCA from the LPA via ductus arteriosus in association with a double-outlet right ventricle, which never has been reported previously in Korea.

  4. [Surgical treatment for tetralogy of Fallot with unilateral absence of a pulmonary artery (author's transl)].

    PubMed

    Beyer, J; Brunner, L; Klinner, W

    1976-10-01

    Among 843 patients with Tetralogy of Fallot, 10 showed unilateral absence of a pulmonary artery. In 7 cases the cause was congenital aplasia, whereas thrombosis of one of the pulmonary arteries following systemic-pulmonary anastomosis was the cause in the remaining 3 patients. According to the reports of other authors and to our own experiences, this rare malformation is treated best with palliative operations, the technique depending on the patient's age and on the individual anatomical condition. Only in very few cases with an acceptable pathologic anatomy there will be a reasonable chance for successful repair with reconstruction of the continuity from the right ventricle to the affected lung. However, if complete repair is performed, reconstruction of the absent pulmonary artery usually will be necessary for avoidance of pulmonary hypertension of the contralateral lung.

  5. Chiari-I malformation in two fighter pilots.

    PubMed

    Akin, Ahmet; Canakci, Zafer; Sen, Ahmet; Tore, Hasan F

    2003-07-01

    This report describes two cases of Chiari Malformation Type I (Chiari-I) in fighter pilots of the Turkish Air Force. Chiari-I is a congenital malformation characterized by herniation of cerebellar tonsils through the foramen magnum. Patients have symptoms and signs related to dysfunction of the brainstem, spinal cord, and cerebellum. They generally are symptomatic in the earlier years of life. However, asymptomatic cases can eventually become symptomatic in later years. Symptoms can be provoked by increasing intracranial pressure (Valsalva or straining). We report on two pilots with Chiari-I malformation who had no symptoms or signs in their daily activities. Furthermore, these pilots had successfully completed physiological training, including centrifuge training, without any symptoms. However, they suffered from headache, neck spasms, and/or disequilibrium under +Gz during flight training sorties. The clinical presentation, diagnosis, treatment, possibility of acquired cases, and aeromedical disposition of Chiari malformations are discussed.

  6. [Renal malformations in the authors' community. General considerations].

    PubMed

    Gutiérrez Benjumea, A; Martín Govantes, J; Cañadas Bueno, M; Gómez de Terreros Sánchez, I

    1990-12-01

    The aim of this work was to study kidney malformations in infants. For this purpose, a study team was formed with two principal goals: to study the anatomic and histologic aspects, and then to correlate them to familial and clinical characteristics as well as to radiologic and echographic studies. We studied 129 cases of kidney malformations found during a study of 4,800 necropsies that had been carried out on infants, as well as of nephrectomized kidneys and biopsy samples. As a result of this study, we have compiled a mixed criteria (anatomic and clinical) classification of kidney malformations, complete with a glossary of equivalent terms to denominate different types of kidney malformations which have been called by a wide variety of nomenclatures in the bibliography.

  7. Glioma coexisting with angiographically occult cerebrovascular malformation: A case report

    PubMed Central

    Chen, Junhui; Chen, Lei; Zhang, Chunlei; He, Jianqing; Li, Peipei; Zhou, Jingxu; Zhu, Jun; Wang, Yuhai

    2016-01-01

    Angiographically occult cerebrovascular malformation (AOVM) is a type of complex cerebrovascular malformation that is not visible on digital subtraction angiography (DSA). Vascular malformation coexisting with glioma is clinically rare, and glioma coexisting with AOVM is even more rare. To the best of our knowledge, the present study is the first to report glioma coexisting with AOVM in the literature. The present study reports a rare case of glioma coexisting with AOVM in a 30-year-old male patient. Computed tomography (CT) scan revealed calcification, hemorrhage and edema in the right frontal lobe. CT angiography revealed a vascular malformation in the right frontal lobe, which was not observed on DSA. Finally, glioma coexisting with AOVM was confirmed by 2.0T magnetic resonance imaging and postoperative pathological examination. The present patient had a positive outcome and no neurological dysfunctions during the 6-month follow-up subsequent to surgery. PMID:27698825

  8. Prolonged expiratory apnoea with cyanosis in Arnold Chiari II malformation

    PubMed Central

    Hussain, Nahin

    2017-01-01

    Apnoea associated with Arnold Chiari malformation is a known entity and can be obstructive or central. Differentiating between two types is vital to deciding management pathway and prognosticating disease process. PMID:28321315

  9. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

  10. Type I Chiari malformation presenting central sleep apnea.

    PubMed

    Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

    2014-04-01

    Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis.

  11. Dural arteriovenous malformation: a rare cause of epilepsy in childhood.

    PubMed

    Caksen, H; Unal, O; Tombul, T; Cesur, Y; Abuhandan, M

    2001-09-01

    A 3 year and 6 month old girl with epilepsy associated with dural arteriovenous malformation (DAVM), diagnosed on the MRI, is presented to emphasise the importance of DAVM in the aetiology of childhood epilepsy.

  12. Malformations of Cortical Development: From Postnatal to Fetal Imaging.

    PubMed

    Lerman-Sagie, Tally; Leibovitz, Zvi

    2016-09-01

    Abnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity. Although MCD are rarely diagnosed prenatally, both dedicated multiplanar neurosonography and magnetic resonance imaging enable good demonstration of fetal cortical development. The imaging signs of fetal MCD are: delayed or absent cerebral sulcation; premature abnormal sulci; thin and irregular hemispheric parenchyma; wide abnormal overdeveloped gyri; wide opening of isolated sulci; nodular bulging into the lateral ventricles; cortical clefts; intraparenchymal echogenic nodules; and cortical thickening. The postnatal and prenatal imaging features of four main malformations of cortical development-lissencephaly, cobblestone malformations, periventricular nodular heterotopia, and polymicrogyria-are described.

  13. Prostatic urethra malformation associated with retrograde ejaculation: a case report.

    PubMed

    Zhao, Kai; Zhang, Jianzhong; Xu, Aiming; Zhang, Cheng; Wang, Zengjun

    2016-12-21

    Retrograde ejaculation can have anatomical, neurogenic, or pharmacological causes. Among these factors, malformation of the prostatic urethra is an uncommon cause. We describe a 29-year-old Han Chinese man with absence of his verumontanum combined with ejaculatory duct cysts, and no other cause for ejaculatory dysfunction. His verumontanum was replaced by a deep groove adjacent to his bladder neck, which could significantly influence bladder neck contraction. In addition, the large cysts in the ejaculatory duct could obstruct the anterior outlet of his prostatic urethra and prevent seminal fluid flow in an anterograde direction. There are few reports of retrograde ejaculation associated with congenital malformations of the posterior urethra. Malformations associated with bladder neck laxity and increased tone of the prostatic urethral outlet can contribute to retrograde ejaculation. Malformation of the prostatic urethra is an uncommon cause of retrograde ejaculation, and can be difficult to treat.

  14. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B.A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michèl A.A.P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P.M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

  15. Variants in CUL4B are associated with cerebral malformations.

    PubMed

    Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E L M; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M; Yntema, Helger G; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B A; Brunner, Han G; van Bokhoven, Hans; Raymond, F Lucy; Willemsen, Michèl A A P; Chelly, Jamel; Xiong, Yue; Barkovich, A James; Kalscheuer, Vera M; Kleefstra, Tjitske; de Brouwer, Arjan P M

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B.

  16. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    PubMed Central

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  17. [Isolated respiratory insufficiency in Arnold-Chiari malformation].

    PubMed

    Noseda, A; Devriendt, J; Hoffmann, G; Schmerber, J

    1996-01-01

    We report on a 45-year old woman with daytime sleepiness, polycythemia, hypoxemia and hypercapnia, admitted to hospital on three occasions in a 10 month period for acute respiratory failure. Polysomnography demonstrated apneas of central type, testing of the respiratory drive suggested central alveolar hypoventilation and magnetic resonance imaging showed an Arnold-Chiari malformation with syringomyelia. The originality of this case is the absence of any neurologic sign, respiratory failure being the sole manifestation of the Arnold-Chiari malformation.

  18. Supernumerary nipples and renal malformations: a family study.

    PubMed

    Brown, Justin; Schwartz, Robert A

    2004-01-01

    We describe a family with supernumerary nipples and kidney and urinary tract malformations. The proband is a 59-year-old man with a supernumerary nipple and recently identified hypoplastic kidney, bladder diverticulum, and hypotonic bladder. His mother also has a supernumerary nipple and a recently identified hypoplastic kidney. Of his three children, all male, one has a supernumerary nipple but has not been evaluated for a kidney or urinary tract malformation. This familial disorder is discussed.

  19. Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus

    PubMed Central

    Whipple, Katherine M.; Godfrey, Kyle J; Solomon, James P.; Lin, Jonathan H.; Korn, Bobby S.; Kikkawa, Don O.

    2016-01-01

    Glomuvenous malformations (GVMs), previously referred to as glomus tumors or glomangiomas, are benign, mesenchymal venous malformations arising from glomus bodies. Glomus bodies are modified smooth muscle neuromyoarterial structures involved in temperature regulation via blood shunting. These classically occur in the digits but can occur in other locations. The authors present a case of a periorbital GVM presented following blunt trauma to the area. PMID:27065433

  20. Contemporary Themes: Congenital Malformations and the Problem of their Control*

    PubMed Central

    Lowe, C. R.

    1972-01-01

    The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth. PMID:4262651

  1. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  2. Split cord malformation type I distal to segmental myelomeningocele

    PubMed Central

    Addas, Bassam M.

    2014-01-01

    The coexistence of myelomeningocele (MMC) and split cord malformation (SCM) is a well-known phenomenon. The SCM is usually above or at the level of the MMC. Split cord malformation distal to the MMC is considered to be the rarest form of such a combination. We report a case of SCM (type I) distal to the MMC diagnosed pre-operatively. Repair of the MMC and the SCM were carried out in the same setting. PMID:25551117

  3. Multiple medullary venous malformations decreasing cerebral blood flow: Case report

    SciTech Connect

    Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. )

    1991-02-01

    A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

  4. Zinc effect on human lymphatic malformation cells in vitro.

    PubMed

    O, Teresa Min-Jung; Lou, Man Si; Ma, Yupo

    2016-01-01

    Lymphatic malformations (LM) are clinically characterized by episodes of inflammatory episodes. Often, an upper respiratory illness or trauma will lead to painful swelling in the distribution of the LM. Zinc is an element involved in numerous aspects of cellular metabolism and is a common dietary supplement and cold remedy. We surmise that zinc may act as a therapeutic anti-inflammatory agent for lymphatic malformations and their cellular components. We investigate the apparent cytotoxic effect of zinc ion on lymphatic malformation cells in vitro. Fresh surgical lymphatic malformation specimens from 10 patients were collected and processed in a laboratory. Tissues were processed and lymphatic malformation cells were isolated and grown. Immunohistochemistry and cell morphology were used to confirm LM cells. HUVEC cells were used as controls. Zinc chloride solution was added to the cells and its effect observed. LM cells were isolated from five of the 10 specimens. Of these, the cells of only one specimen were able to be amplified to confluence. Five specimens were contaminated. Immunohistochemical staining (CD31, D2-40, and LYVE-1) and cell morphology of our specimens were consistent with lymphatic malformation while HUVEC control cells were negative. Zinc has a cytotoxic effect on BEL isolates in vitro with no obvious effect on cell morphology or growth rate of the control HUVEC cells. When compared with the published toxic zinc concentration for most cell types in the literature (100μM total zinc in vitro), our result indicates that LM cells may have a lower tolerance to zinc (10μM total zinc in vitro). Zinc has an apparent morphological effect on lymphatic malformation cells in vitro. Compared with other cell types, LM cells have a lower tolerance to zinc. While this result looks very promising for future therapeutic use of zinc in acute lymphangitis, further studies are necessary, such as finding the IC50 of zinc for lymphatic malformation in vitro and also in

  5. Postoperative Acute Pulmonary Embolism Following Pulmonary Resections.

    PubMed

    Shonyela, Felix Samuel; Yang, Shuangqiang; Liu, Bo; Jiao, Jia

    2015-01-01

    Postoperative acute pulmonary embolism after pulmonary resections is highly fatal complication. Many literatures have documented cancer to be the highest risk factor for acute pulmonary embolism after pulmonary resections. Early diagnosis of acute pulmonary embolism is highly recommended and computed tomographic pulmonary angiography is the gold standard in diagnosis of acute pulmonary embolism. Anticoagulants and thrombolytic therapy have shown a great success in treatment of acute pulmonary embolism. Surgical therapies (embolectomy and inferior vena cava filter replacement) proved to be lifesaving but many literatures favored medical therapy as the first choice. Prophylaxis pre and post operation is highly recommended, because there were statistical significant results in different studies which supported the use of prophylaxis in prevention of acute pulmonary embolism. Having reviewed satisfactory number of literatures, it is suggested that thoroughly preoperative assessment of patient conditions, determining their risk factors complicating to pulmonary embolism and the use of appropriate prophylaxis measures are the key options to the successful minimization or eradication of acute pulmonary embolism after lung resections.

  6. Chronic thromboembolic pulmonary hypertension.

    PubMed

    Schölzel, B E; Snijder, R J; Mager, J J; van Es, H W; Plokker, H W M; Reesink, H J; Morshuis, W J; Post, M C

    2014-12-01

    Chronic pulmonary thromboembolic disease is an important cause of severe pulmonary hypertension, and as such is associated with significant morbidity and mortality. The prognosis of this condition reflects the degree of associated right ventricular dysfunction, with predictable mortality related to the severity of the underlying pulmonary hypertension. Left untreated, the prognosis is poor. Pulmonary endarterectomy is the treatment of choice to relieve pulmonary artery obstruction in patients with chronic thromboembolic pulmonary hypertension and has been remarkably successful. Advances in surgical techniques along with the introduction of pulmonary hypertension-specific medication provide therapeutic options for the majority of patients afflicted with the disease. However, a substantial number of patients are not candidates for pulmonary endarterectomy due to either distal pulmonary vascular obstruction or significant comorbidities. Therefore, careful selection of surgical candidates in expert centres is paramount. The current review focuses on the diagnostic approach to chronic thromboembolic pulmonary hypertension and the available surgical and medical therapeutic options.

  7. Congenital malformations and other reproductive losses in goats due to poisoning by Poincianella pyramidalis (Tul.) L.P. Queiroz (=Caesalpinia pyramidalis Tul.).

    PubMed

    Santos Dos Reis, Suélen Dias; de Oliveira, Ricardo Santana; Correia Marcelino, Sóstenes Apolo; Silva Almeida E Macêdo, Juliana Targino; Riet-Correa, Franklin; da Anunciação Pimentel, Luciano; Ocampos Pedroso, Pedro Miguel

    2016-08-01

    In the semiarid region of Brazil, in areas with vegetation composed mainly of Poincianella pyramidalis, several cases of congenital malformation and reproductive losses were observed in goats and sheep from 2012 to 2014. To determine the teratogenic effect of P. pyramidalis, two groups of eight goats each were used. Goats from Group 1 received fresh P. pyramidalis, harvested daily, as the only roughage during the whole breeding and pregnancy period. Goats in Group 2 (control) received Cynodon dactylon (tifton) hay free choice. Ultrasound examination for pregnancy diagnosis was performed every 28 days. Four goats from Group 1 were pregnant on day 28 but not on day 56, suggesting embryonic death or abortion. Another goat from Group 1 died at day 70 of pregnancy, and the fetuses exhibited micrognathia. The other three goats bore six kids, three of which showed bone malformations in the limbs, spine, ribs, sternum, and head, including arthrogryposis, scoliosis and micrognathia. One kid also showed hypoplasia of the left pulmonary lobes. In the control group, all goats bore a total of 13 kids and none of them exhibited malformations. These results demonstrated that P. pyramidalis causes congenital malformations and other reproductive losses in goats. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Limb malformations and abnormal sex hormone concentrations in frogs.

    PubMed Central

    Sower, S A; Reed, K L; Babbitt, K J

    2000-01-01

    Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research. PMID:11102301

  9. Congenital vascular malformations: a series of five prenatally diagnosed cases.

    PubMed

    Connell, Fiona; Homfray, Tessa; Thilaganathan, Baskaran; Bhide, Amarnath; Jeffrey, Iona; Hutt, Renata; Mortimer, Peter; Mansour, Sahar

    2008-10-15

    In the literature there are single case reports of mediastinal/chest and limb combined vascular malformations (previously labeled "hemangiolymphangiomas"). A variable outcome in such prenatally diagnosed cases is reported. Presented here is the only series of patients reported with these macrocystic, predominantly lymphatic malformations. Prenatal ultrasound scan and post-mortem examination findings are described. In our experience the outcome has been poor and this highlights the dilemma faced by clinicians and parents when these lesions are diagnosed prenatally. We present a series of five, prenatally diagnosed vascular (combined vascular malformations and simple localized lymphatic malformations) malformations. Three cases had lower leg involvement with extension into the abdomen and two cases had lymphatic malformations of the chest wall with involvement of the upper limb(s). Management of a twin pregnancy, in which one twin was affected, is described. In two cases, termination of pregnancy was undertaken because of the extensive nature of the lesion. One case died in utero and one in the neonatal period. The fifth case is an 11-year-old boy, whose lower limb deformity illustrates the considerable morbidity associated with this condition. 2008 Wiley-Liss, Inc.

  10. A review of cavernous malformations with trigeminal neuralgia.

    PubMed

    Adachi, Kazuhide; Hasegawa, Mitsuhiro; Hayashi, Takuro; Nagahisa, Shinya; Hirose, Yuichi

    2014-10-01

    Cavernous malformation with trigeminal neuralgia is relatively rare; only 10 cases have been reported. In deciding treatment strategies, it is helpful to classify cavernous malformation according to its origin, as follows: in the Gasserian ganglion (Type G); between the cisternal and intra-axial portions of the trigeminal nerve root (Type C); in the intra-axial trigeminal nerve root in the pons (Type P); or in the spinal tract of the trigeminal nerve root (Type S). A 62-year-old male presented with left trigeminal neuralgia (V2 area) and left facial hypoesthesia. Imaging studies revealed a cerebellopontine angle mass lesion with characteristics of a cavernous malformation and evidence of hemorrhage. The lesion was completely removed via a left anterior transpetrosal approach. The mass was attached to the trigeminal nerve root; it was located between the cisternal and intra-axial portions of the nerve root, and feeding off microvessels from the trigeminal nerve vascular plexus. Histological examination confirmed a cavernous malformation. In this case, the cavernous malformation was Type C. We review cases of cavernous malformation with trigeminal neuralgia and discuss therapeutic strategies according to the area of origin. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Pulmonary Vasculitis

    PubMed Central

    Brown, Kevin K.

    2006-01-01

    Pulmonary vasculitis describes a number of distinct disorders that are pathologically characterized by the destruction of blood vessels. The clinical manifestations of each disorder are defined by the size, type, and location of the affected vasculature. The clinical approach to these disorders rests upon an astute clinician considering the diagnosis and identifying the specific patterns of clinical, radiologic, laboratory, and pathologic abnormalities. Lung involvement is most commonly seen with the primary, idiopathic, small-vessel, or antineutrophil cytoplasmic antibody–associated vasculitides; Wegener's granulomatosis, microscopic polyangiitis, and Churg-Strauss syndrome. However, primary, idiopathic medium and large-vessel vasculitis, primary immune complex–mediated vasculitis, and secondary vasculitis are all capable of presenting with lung involvement. In this article, we focus on the more common, antineutrophil cytoplasmic antibody–associated disorder, vasculitides. PMID:16493151

  12. Pulmonary embolism

    PubMed Central

    Tarbox, Abigail K.; Swaroop, Mamta

    2013-01-01

    Pulmonary embolism (PE) is responsible for approximately 100,000 to 200,000 deaths in the United States each year. With a diverse range of clinical presentations from asymptomatic to death, diagnosing PE can be challenging. Various resources are available, such as clinical scoring systems, laboratory data, and imaging studies which help guide clinicians in their work-up of PE. Prompt recognition and treatment are essential for minimizing the mortality and morbidity associated with PE. Advances in recognition and treatment have also enabled treatment of some patients in the home setting and limited the amount of time spent in the hospital. This article will review the risk factors, pathophysiology, clinical presentation, evaluation, and treatment of PE. PMID:23724389

  13. A consensus approach to the classification of pediatric pulmonary hypertensive vascular disease: Report from the PVRI Pediatric Taskforce, Panama 2011

    PubMed Central

    del Cerro, Maria Jesus; Abman, Steven; Diaz, Gabriel; Freudenthal, Alexandra Heath; Freudenthal, Franz; Harikrishnan, S.; Haworth, Sheila G.; Ivy, Dunbar; Lopes, Antonio A.; Raj, J. Usha; Sandoval, Julio; Stenmark, Kurt; Adatia, Ian

    2011-01-01

    Current classifications of pulmonary hypertension have contributed a great deal to our understanding of pulmonary vascular disease, facilitated drug trials, and improved our understanding of congenital heart disease in adult survivors. However, these classifications are not applicable readily to pediatric disease. The classification system that we propose is based firmly in clinical practice. The specific aims of this new system are to improve diagnostic strategies, to promote appropriate clinical investigation, to improve our understanding of disease pathogenesis, physiology and epidemiology, and to guide the development of human disease models in laboratory and animal studies. It should be also an educational resource. We emphasize the concepts of perinatal maladaptation, maldevelopment and pulmonary hypoplasia as causative factors in pediatric pulmonary hypertension. We highlight the importance of genetic, chromosomal and multiple congenital malformation syndromes in the presentation of pediatric pulmonary hypertension. We divide pediatric pulmonary hypertensive vascular disease into 10 broad categories. PMID:21874158

  14. Sports participation with Chiari I malformation.

    PubMed

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe.

  15. Prevention and avoidance of congenital malformations.

    PubMed

    Nevin, N C

    1988-06-15

    Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as 'multifactorial' as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in 'high risk' mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7%) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect.

  16. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk.

  17. Genetic and Developmental Basis of Cardiovascular Malformations

    PubMed Central

    Azhar, Mohamad; Ware, Stephanie M.

    2015-01-01

    Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1–5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multi-step process of morphogenesis that is under genetic regulation. Multiple developmental pathways act independently or in combination to effect proper cardiac lineage specification, differentiation, and structure. Because of this complexity, there are numerous potential mechanisms by which genetic variation can impact both fetal cardiac development and latent cardiac disease. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified relatively infrequently. Mouse models are important tools to investigate the molecular mechanisms underpinning cardiac development as well as the complex genetics that characterize human CVMs. In this review we provide an overview of the key genetic concepts characterizing human CVMs, review their developmental basis, and provide examples to illustrate the critical developmental and genetic concepts underlying the pathogenesis of CVMs. PMID:26876120

  18. Cerebral Arteriovenous Malformation Associated with Moyamoya Disease

    PubMed Central

    Noh, Jung-Hoon; Yeon, Je Young; Park, Jae-Han

    2014-01-01

    The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expectantly after encephalo-duro-arterio-synangiosis (EDAS) as the main feeders stemmed from the internal carotid artery, which we believed would be obliterated with the progression of MMD. However, the AVM persisted with replacement of the internal carotid artery feeders by new external carotid artery feeders from the EDAS site. The AVM was eventually treated with gamma knife radiosurgery considering an increasing steal effect. The second case was a de novo AVM case. The patient was initially diagnosed with MMD, and acquired an AVM eight years later that was slowly fed by the reconstituted anterior cerebral artery. Because the patient remained asymptomatic, the AVM is currently being closely followed for more than 2 years without further surgical intervention. Possible differences in the pathogenesis and the radiologic presentation of these AVMs are discussed with a literature review. No solid consensus exists on the optimal treatment of MMD-associated AVMs. Gamma knife radiosurgery appears to be an effective treatment option for an incidental AVM. However, a de novo AVM may be managed expectantly considering the possible risks of damaging established collaterals, low flow characteristics, and probably low risks of rupture. PMID:25371789

  19. Cerebral arteriovenous malformation associated with moyamoya disease.

    PubMed

    Noh, Jung-Hoon; Yeon, Je Young; Park, Jae-Han; Shin, Hyung Jin

    2014-10-01

    The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expectantly after encephalo-duro-arterio-synangiosis (EDAS) as the main feeders stemmed from the internal carotid artery, which we believed would be obliterated with the progression of MMD. However, the AVM persisted with replacement of the internal carotid artery feeders by new external carotid artery feeders from the EDAS site. The AVM was eventually treated with gamma knife radiosurgery considering an increasing steal effect. The second case was a de novo AVM case. The patient was initially diagnosed with MMD, and acquired an AVM eight years later that was slowly fed by the reconstituted anterior cerebral artery. Because the patient remained asymptomatic, the AVM is currently being closely followed for more than 2 years without further surgical intervention. Possible differences in the pathogenesis and the radiologic presentation of these AVMs are discussed with a literature review. No solid consensus exists on the optimal treatment of MMD-associated AVMs. Gamma knife radiosurgery appears to be an effective treatment option for an incidental AVM. However, a de novo AVM may be managed expectantly considering the possible risks of damaging established collaterals, low flow characteristics, and probably low risks of rupture.

  20. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

    Perquin, D A; Kloet, A; Tans, J T; Witte, G N; Dörr, P J

    1999-03-06

    Three women, aged 27, 32 and 30 years, respectively, suffered from headache, nausea and neurological abnormalities and were found to have an intracranial arteriovenous malformation (AVM). One of them after diagnosis had two pregnancies, both ended by caesarean section with good results. Another woman was 32 weeks pregnant when the AVM manifested itself with a haemorrhage; she recovered well and was delivered by caesarean section. After the AVM proved radiologically to have been obliterated, she delivered after her subsequent pregnancy by the vaginal route with vacuum extraction. The third woman was 15 weeks pregnant when major abnormalities developed. There was a large intracerebral haematoma with break-through to the ventricular system; this patient died. Intracranial haemorrhage during pregnancy is rate. It can result in maternal and foetal morbidity and mortality. It appears that pregnancy does not increase the rate of first cerebral haemorrhage from an AVM. The management of AVM rupture during pregnancy should be based primarily on neurosurgical rather than on obstetric considerations. Close collaboration with a team of neurologists, neurosurgeons, obstetricians and anaesthesiologists is mandatory.

  1. Management of pediatric intramuscular venous malformations.

    PubMed

    Wieck, Minna M; Nowicki, Donna; Schall, Kathy A; Zeinati, Chadi; Howell, Lori K; Anselmo, Dean M

    2017-04-01

    Intramuscular venous malformations (VMs) are rare, but can be highly symptomatic. There are few reports on outcomes, particularly pain, functional limitations, and muscle contractures. We aimed to compare results of medical management, sclerotherapy, and surgical resection. We retrospectively reviewed 45 patients with an extremity or truncal intramuscular VM between June 2005 and June 2015 at a single institution. Outcomes were compared between treatment modalities with ANOVA and χ2 tests. Six patients (13%) were treated with medical management, 4 (9%) with surgical resection, 23 (51%) with sclerotherapy, and 12 (27%) with both surgery and sclerotherapy. Sclerotherapy alone decreased pain in 72%. Only 20% of patients presented with muscle contracture. For these patients, 33% resolved with sclerotherapy, physical therapy, and aspirin; 22% resolved with surgery, and 45% had persistent contracture. 40% of patients treated with sclerotherapy then surgery developed new muscle contractures, compared to 4% of sclerotherapy only patients and 0% of surgery only patients (p=0.04). Medical management, surgery and sclerotherapy are effective treatments for intramuscular VMs. Observation and supportive care can be a primary treatment for patients with minimal symptomatology and no functional limitations. Sclerotherapy is more effective for treating pain than contractures and when used alone, rarely causes a new muscle contracture. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  3. Vascular permeability in cerebral cavernous malformations

    PubMed Central

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik BW; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy. PMID:25966944

  4. Vascular permeability in cerebral cavernous malformations.

    PubMed

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik B W; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-10-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy.

  5. The natural history of cerebral arteriovenous malformations.

    PubMed

    Can, Anil; Gross, Bradley A; Du, Rose

    2017-01-01

    Cerebral arteriovenous malformations (AVMs) are composed of a complex tangle of abnormal arteries and veins and are a significant source of cerebral hemorrhage and consequent morbidity and mortality in young adults, representing a diagnostic and therapeutic challenge. Current natural-history studies of cerebral AVMs report overall annual rates of 1% and 3% for the risk of epilepsy and hemorrhage, respectively. Unruptured AVMs have an annual hemorrhage rate of 2.2% while ruptured lesions have an annual hemorrhage rate of 4.5%. These hemorrhage rates are can change over time, particularly for hemorrhagic lesions, with the rebleed rate ranging from 6% to 15.8% in the first year after rupture across several studies. Besides hemorrhage, other significant risk factors for AVM hemorrhage include deep location, deep venous drainage, associated aneurysms, and pregnancy. Other factors include patient age, sex, and small AVM size, which are not currently considered significant risk factors for AVM hemorrhage. In addition to hemorrhage risk and seizure risk, the natural history of an AVM also encompasses the daily psychologic burden that a patient must endure knowing that he or she possesses an untreated AVM. This chapter reviews the epidemiology, clinical features, and natural history of cerebral AVMs. © 2017 Elsevier B.V. All rights reserved.

  6. Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana

    PubMed Central

    Zash, Rebecca; Shapiro, Roger L.; Batlang, Oganne; Botebele, Kerapetse; Bennett, Kara; Chilisa, Florence; von Widenfelt, Erik; Makhema, Joseph; Lockman, Shahin; Holmes, Lewis B.; Powis, Kathleen M

    2017-01-01

    Introduction A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART). While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted. Methods We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study). Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations. Results Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99%) newborn exams. One thousand eighty-eight (38%) women were taking ART at conception; 1,147 (40%) started ART during pregnancy; 442 (15%) received zidovudine monotherapy; and 223 (7%) received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76%) met congenital malformations criteria, 10 (30%) were classified as major malformations, 4 (40%) of which were identified after the birth exam. Discussion Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy. Significance Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization

  7. Scimitar syndrome with absent right pulmonary artery and severe pulmonary hypertension treated with coil occlusion of aortopulmonary collaterals in a term neonate.

    PubMed

    Parappil, Hussain; Masud, Faraz; Salama, Husam; ur Rahman, Sajjad

    2015-02-25

    Scimitar syndrome (SS) is a rare congenital malformation with an estimated incidence of approximately 2 in 100 000 births. A wide clinical spectrum is observed in children with this syndrome. The common clinical presentation in infancy is respiratory distress and tachypnoea due to associated pulmonary hypoplasia, pulmonary overcirculation and/or pulmonary hypertension. Babies with SS presenting with cardiac failure are prone to develop exaggerated pulmonary vascular disease. Hence early intervention, using either coil embolisation or surgical intervention, is indicated. We are reporting a case of a term baby boy who presented with respiratory failure during the first 24 h of life. Echocardiogram and CT angiogram revealed SS. The baby needed intubation due to respiratory failure. Aortopulmonary collaterals, identified on aortic angiogram, were successfully occluded with detachable coils.

  8. A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome.

    PubMed

    Demir, Nihat; Peker, Erdal; Ece, İbrahim; Kaba, Sultan; Ağengin, Kemal; Tuncer, Oğuz

    2015-01-01

    Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.

  9. Unexpected cause of cyanosis and dyspnea in an adult: direct communication of the right pulmonary artery and left atrium.

    PubMed

    Kilic, Ismail Dogu; Alihanoglu, Yusuf I; Karabulut, Nevzat; Durna, Fırat; Emrecan, Bilgin

    2014-05-01

    Direct communication of the right pulmonary artery and the left atrium is an extremely rare congenital malformation of the pulmonary vasculature. A 41-year-old woman with a history of cyanosis since childhood presented with mild exertional dyspnea. On physical examination, she had central cyanosis, clubbing of the fingers, and an upright position caused by orthodeoxia. Imaging studies showed a very large aneurysm in the distal right pulmonary artery with a direct communication to the left atrium. The patient underwent successful repair, with resolution of hypoxia and exertional symptoms. Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  10. Quantitative Susceptibility Mapping in Cerebral Cavernous Malformations: Clinical Correlations.

    PubMed

    Tan, H; Zhang, L; Mikati, A G; Girard, R; Khanna, O; Fam, M D; Liu, T; Wang, Y; Edelman, R R; Christoforidis, G; Awad, I A

    2016-07-01

    Quantitative susceptibility mapping has been shown to assess iron content in cerebral cavernous malformations. In this study, our aim was to correlate lesional iron deposition assessed by quantitative susceptibility mapping with clinical and disease features in patients with cerebral cavernous malformations. Patients underwent routine clinical scans in addition to quantitative susceptibility mapping on 3T systems. Data from 105 patients met the inclusion criteria. Cerebral cavernous malformation lesions identified on susceptibility maps were cross-verified by T2-weighted images and differentiated on the basis of prior overt hemorrhage. Mean susceptibility per cerebral cavernous malformation lesion (χ̄lesion) was measured to correlate with lesion volume, age at scanning, and hemorrhagic history. Temporal rates of change in χ̄lesion were evaluated in 33 patients. Average χ̄lesion per patient was positively correlated with patient age at scanning (P < .05, 4.1% change with each decade of life). Cerebral cavernous malformation lesions with prior overt hemorrhages exhibited higher χ̄lesion than those without (P < .05). Changes in χ̄lesion during 3- to 15-month follow-up were small in patients without new hemorrhage between the 2 scans (bias = -0.0003; 95% CI, -0.06-0.06). The study revealed a positive correlation between mean quantitative susceptibility mapping signal and patient age in cerebral cavernous malformation lesions, higher mean quantitative susceptibility mapping signal in hemorrhagic lesions, and minimum longitudinal quantitative susceptibility mapping signal change in clinically stable lesions. Quantitative susceptibility mapping has the potential to be a novel imaging biomarker supplementing conventional imaging in cerebral cavernous malformations. The clinical significance of such measures merits further study. © 2016 by American Journal of Neuroradiology.

  11. Onyx in Brain Arteriovenous Malformation Embolisation.

    PubMed

    Hashim, Hilwati; Muda, A Sobri; Abdul Aziz, Aida; Abdul Hamid, Zuhanis

    2016-07-01

    Embolisation has long been used as an adjunct to surgical resection in the treatment of brain arteriovenous malformation (bAVM). The most commonly used embolic material, n-butylcyanoacrylate glue, requires experience and skill to handle its quick and unpredictable flow and polymerisation. A new liquid embolic agent, ethylene vinyl alcohol copolymer (Onyx), is less adhesive and polymerises slowly, which provides better control for radiologists performing embolisation. To report our experience in embolisation using Onyx alone or in combination with histoacryl for bAVM embolisation in our tertiary referral centre. We retrospectively reviewed the anatomy, technical conditions, complications and clinical outcome of all bAVM patients embolised at our centre using Onyx alone or in combination with n-butylcyanoacrylate glue. Between 2010 and 2013, 13 patients [6 (46.2%) male; 7 (53.8%) female; aged, 14-57 years] were included, and a total of 31 embolisations were performed. Clinical presentation included hemorrhage [9 (69.2%)], seizures [2 (15.4%)], and headache [2 (15.4%)]. Most AVMs were located in the brain hemispheres [12 (92.3%)] and measured <3 cm [7 (53.8%]. Complete occlusion of the AVM was obtained in 2 (15.4%) patients; 11 (84.6%) patients had partial occlusion [6 (54.5%) had <50% nidus occlusion]. Complications occurred in four procedures involving 3 patients (morbidity, 23.1%). This resulted in the death of 1 patient (mortality, 7.7%) and complete recovery with no disability in 2 patients. The total nidal occlusion achieved herein is comparable to other similar studies. Our morbidity and mortality were higher compared to other studies which may be attributed to the small number of patients. More data is being collected which may better reflect on our experience.

  12. Management of Orbital and Periorbital Venous Malformation.

    PubMed

    Benoiton, Lara A; Chan, Kenneth; Steiner, Frederica; FitzJohn, Trevor; Tan, Swee T

    2017-01-01

    To review our management of common venous malformation (VM) affecting the orbit and/or periorbital area. Consecutive patients with orbital and/or periorbital VM were identified from our vascular anomalies database. Demographic details of the patients, anatomic site(s) affected, symptoms and signs, presence of a family history of VM, and types of treatment(s) were collected, supplemented by chart review. A total of 24 patients' age 1-68 (mean, 30) years with orbital and/or periorbital VM presented with cosmetic concerns (n = 17, 71%), distensibility (n = 15, 63%), pain (n = 9, 38%), diplopia (n = 4, 17%), and spontaneous thrombosis (n = 1, 8%). The VM caused globe dystopia (n = 13, 54%), enophthalmos (n = 6, 25%), proptosis (n = 3, 12%), exotropia (n = 3, 12%), and pseudoptosis with visual obstruction (n = 3, 13%). A total of 11 (46%) patients were managed conservatively. 13 (54%) patients underwent active treatment. Ethanol sclerotherapy (ES) was performed in six patients with extensive facial VM associated with orbital/periorbital involvement, resulting in symptomatic improvement in five patients, one of whom developed skin necrosis and another patient developed reduced infraorbital nerve sensation. Surgery was performed for localized lesion (n = 3, 23%), for extensive lesions (n = 4, 31%) and as an adjunct to ES (n = 6, 46%) resulting in symptomatic improvement in all patients. One patient required correction of lower lid ectropion. Orbital and/or periorbital VMs are heterogeneous, and management needs to be individualized. Surgery is used for localized lesions aiming for complete excision, as a debulking procedure for extensive orbital/periorbital VM when ES was not possible, or following ES for extensive facial VM with orbital and/or periorbital involvement.

  13. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Leed, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Repeat radiosurgery for cerebral arteriovenous malformations

    PubMed Central

    Stapleton, Christopher J.; Ding, Dale; Leed, Cheng-Chia; Loeffler, Jay S.

    2015-01-01

    We perform a systematic review of repeated radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeated radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3 years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42 Gy and 19.06 Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9–71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80 months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8 months. The most common complications of repeated radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at three years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  15. Immune Response in Human Cerebral Cavernous Malformations

    PubMed Central

    Shi, Changbin; Shenkar, Robert; Du, Hongyan; Duckworth, Edward; Raja, Harish; Batjer, H. Hunt; Awad, Issam A.

    2009-01-01

    Background and Purpose Preliminary observations suggesting the presence of B and plasma cells and oligoclonality of immunoglobulin (Ig) G in cerebral cavernous malformations (CCMs) have motivated a systematic study correlating the infiltration of the immune cells with clinical activity and antigen-triggered immune response in surgically excised lesions. Methods Infiltration of plasma, B, T and HLA-DR expressing cells and macrophages within 23 excised CCMs was related to clinical activity. Relative amounts of Ig isotypes were determined. IgG clonality of mRNA from CCMs was assessed by spectratyping, cloning and sequencing. Results Infiltration of the immune cells ranged widely within CCM lesions and cells were generally co-expressed with each other. Immune cell infiltration did not associate with recent bleeding and lesion growth. Significantly more B lymphocytes in CCM lesions were associated with venous anomaly. More T cells were present in solitary lesions. More T cells and less macrophages were present in CCMs from younger subjects. IgG isotype was present in all CCM lesions. Most lesions also expressed IgM and IgA, with IgM predominance over IgA correlating with recent CCM growth. Oligoclonality was shown in IgG mRNA from CCMs, but not from peripheral blood lymphocytes, with only eight CDR3 sequences observed among 134 clones from two CCM lesions. Conclusions An antigen-directed oligoclonal IgG immune response is present within CCM lesions regardless of recent clinical activity. Apparent differences in immune response in younger patients and in lesions with recent growth will need confirmation in other series. The pathogenicity of oligoclonal immune response will require systematic hypothesis testing in recently available CCM murine models. PMID:19286587

  16. Autism with ophthalmologic malformations: the plot thickens.

    PubMed

    Miller, Marilyn T; Strömland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher

    2004-01-01

    To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.

  17. Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

    PubMed

    Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

    2015-10-01

    To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p < 0.05). Musculoskeletal system was the most common system involved. Prevalence of malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p < 0.001). Prevalence of malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital

  18. [Pulmonary alveolar microlithiasis. Study of pulmonary circulation].

    PubMed

    Orea Tejeda, A; Atencio, C; Sandoval, J; Lupi Herrera, E

    1982-01-01

    Pulmonary alveolar microlithiasis is a rare disease of unknown etiology which consists of alveolar deposit of calcium microspheres. We report the procedures for the diagnosis of this disease, as well as the hemodynamic features of the pulmonary circulation. Pulmonary arterial hypertension (PAH), and cor pulmonale were documented. The active and passive factors involved in PAH are analyzed. We conclude that alveolar hypoxia and estructural vascular changes play a major role in the genesis of PAH.

  19. Pulmonary Hypertension in Sarcoidosis.

    PubMed

    Baughman, Robert P; Engel, Peter J; Nathan, Steven

    2015-12-01

    Pulmonary hypertension is a complication of sarcoidosis leading to dyspnea and associated with increased morbidity and mortality. Sarcoidosis-associated pulmonary hypertension (SAPH) can be due to several factors, including vascular involvement by the granulomatous inflammation, compression of the pulmonary arteries by adenopathy, fibrotic changes within the lung, and left ventricular diastolic dysfunction. Several case series have suggested that some patients with SAPH benefit from specific therapy for pulmonary hypertension. A randomized, placebo-controlled trial found 16 weeks' bosentan therapy to be associated with significant improvement in pulmonary artery pressure. Future studies may better define who would respond to treatment of pulmonary hypertension.

  20. Pulmonary function in advanced pulmonary hypertension.

    PubMed Central

    Burke, C M; Glanville, A R; Morris, A J; Rubin, D; Harvey, J A; Theodore, J; Robin, E D

    1987-01-01

    Pulmonary mechanical function and gas exchange were studied in 33 patients with advanced pulmonary vascular disease, resulting from primary pulmonary hypertension in 18 cases and from Eisenmenger physiology in 15 cases. Evidence of airway obstruction was found in most patients. In addition, mean total lung capacity (TLC) was only 81.5% of predicted and 27% of our subjects had values of TLC less than one standard deviation below the mean predicted value. The mean value for transfer factor (TLCO) was 71.8% of predicted and appreciable arterial hypoxaemia was present, which was disproportionate to the mild derangements in pulmonary mechanics. Patients with Eisenmenger physiology had significantly lower values of arterial oxygen tension (PaO2) (p less than 0.05) and of maximum mid expiratory flow (p less than 0.05) and significantly higher pulmonary arterial pressure (p less than 0.05) than those with primary pulmonary hypertension, but no other variables were significantly different between the two subpopulations. It is concluded that advanced pulmonary vascular disease in patients with primary pulmonary hypertension and Eisenmenger physiology is associated not only with severe hypoxaemia but also with altered pulmonary mechanical function. PMID:3433237

  1. Antipsychotic Use in Pregnancy and the Risk for Congenital Malformations

    PubMed Central

    Huybrechts, Krista F.; Hernández-Díaz, Sonia; Patorno, Elisabetta; Desai, Rishi J.; Mogun, Helen; Dejene, Sara Z.; Cohen, Jacqueline M.; Panchaud, Alice; Cohen, Lee; Bateman, Brian T.

    2017-01-01

    IMPORTANCE The frequency of antipsychotic (AP) use during pregnancy has approximately doubled during the last decade. However, little is known about their safety for the developing fetus, and concerns have been raised about a potential association with congenital malformations. OBJECTIVE To examine the risk for congenital malformations overall and cardiac malformations associated with first-trimester exposure to APs. DESIGN, SETTING, AND PARTICIPANTS This nationwide sample of 1 360 101 pregnant women enrolled in Medicaid with a live-born infant constituted the pregnancy cohort nested in the Medicaid Analytic Extract database, which included data from January 1, 2000, to December 31, 2010. Participants were enrolled in Medicaid from 3 months before their last menstrual period through at least 1 month after delivery. Relative risks (RRs) were estimated using generalized linear models with fine stratification on the propensity score to control for the underlying psychiatric disorders and other potential confounders. Data were analyzed during 2015. EXPOSURES Use of APs during the first trimester, the etiologically relevant period for organogenesis. MAIN OUTCOMES AND MEASURES Major congenital malformations overall and cardiac malformations identified during the first 90 days after delivery. RESULTS Of the 1 341 715 pregnancies that met inclusion criteria (mean [SD] age of women, 24.02 [5.77] years), 9258 (0.69%) filled at least 1 prescription for an atypical AP and 733 (0.05%) filled at least 1 prescription for a typical AP during the first trimester. Overall, 32.7 (95% CI, 32.4–33.0) per 1000 births not exposed to APs were diagnosed with congenital malformations compared with 44.5 (95% CI, 40.5–48.9) per 1000 births exposed to atypical and 38.2 (95% CI, 26.6–54.7) per 1000 births exposed to typical APs. Unadjusted analyses suggested an increased risk for malformations overall for atypical APs (RR, 1.36; 95% CI, 1.24–1.50) but not for typical APs (RR, 1.17; 95

  2. The role of modern imaging techniques in the diagnosis of malposition of the branch pulmonary arteries and possible association with microdeletion 22q11.2.

    PubMed

    Cuturilo, Goran; Drakulic, Danijela; Krstic, Aleksandar; Gradinac, Marija; Ilisic, Tamara; Parezanovic, Vojislav; Milivojevic, Milena; Stevanovic, Milena; Jovanovic, Ida

    2013-04-01

    Malposition of the branch pulmonary arteries is a rare malformation with two forms. In the typical form, pulmonary arteries cross each other as they proceed to their respective lungs. The “lesser form” is characterised by the left pulmonary artery ostium lying directly superior to the ostium of the right pulmonary artery, without crossing of the branch pulmonary arteries. Malposition of the branch pulmonary arteries is often associated with other congenital heart defects and extracardiac anomalies, as well as with 22q11.2 microdeletion. We report three infants with crossed pulmonary arteries and one adolescent with “lesser form” of the malformation. The results suggest that diagnosis of malposition of the branch pulmonary arteries could be challenging if based solely on echocardiography, whereas modern imaging technologies such as contrast computed tomography and magnetic resonance angiography provide reliable establishment of diagnosis. In addition, we performed the first molecular characterisation of the 22q11.2 region among patients with malposition of the branch pulmonary arteries and revealed a 3-megabase deletion in two out of four patients

  3. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

    Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

  4. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance.

    PubMed

    Gault, Judith; Sarin, Hemant; Awadallah, Nabil A; Shenkar, Robert; Awad, Issam A

    2004-07-01

    Cerebrovascular malformations affect more than 3% of the population, exposing them to a lifetime risk of hemorrhagic stroke, seizures, and focal neurological deficits. Cerebral cavernous malformations (CCMs) exhibit an immature vessel wall, a brittle hemorrhagic tendency, and epileptogenesis, whereas arteriovenous malformations (AVMs) lack capillary beds and manifest apoplectic bleeding under high-flow conditions. There are also more benign venous anomalies, capillary malformations, and lesions with mixed and transitional features. Advances have been made toward understanding the natural history, radiological and pathological correlates, and clinical management. Yet, mechanisms of lesion genesis and clinical manifestations remain largely unknown, and the clinical behavior in individual patients is highly unpredictable. Lesion pathogenesis likely involves abnormal assembly or maintenance of blood vessels, resulting in dysmorphic vessel phenotypes. Familial CCM disease is in part caused by mutations in a cytoskeletal-related protein that is likely integral to interendothelial cell connectivity and maturation of the vascular wall. Rare familial forms of AVM disease have been correlated with two different transforming growth factor-beta receptor components, possibly causing disturbance in signaling during vascular assembly. Relevance of these mechanisms to the more common and otherwise identical sporadic CCM and AVM lesions is being explored. In this report, basic mechanisms of vasculogenesis and angiogenesis and how they possibly relate to the common cerebrovascular malformation lesions are reviewed. Novel concepts are discussed related to the cellular, molecular, and genetic substrates in CCM and AVM as well as to how this knowledge can be applied to predict, explain, and possibly modify clinical disease manifestations.

  5. Propranolol Treatment of Cavernous Malformations with Symptomatic Hemorrhage.

    PubMed

    Zabramski, Joseph M; Kalani, M Yashar S; Filippidis, Aristotelis S; Spetzler, Robert F

    2016-04-01

    Cerebral cavernous malformations are more common than generally thought, affecting approximately 1 in every 250 adults. Most of these lesions are asymptomatic or have a relatively benign course, but a small minority behave aggressively and present with recurrent episodes of symptomatic hemorrhage. A safe and effective medical treatment option for the management of this latter group would be useful. Propranolol has recently been shown to be effective in the treatment of infantile hemangioma, a close pathologic counterpart of cavernous malformations. These results suggest a potential role for propranolol treatment in the management of patients with symptomatic cavernous malformations. Low-dose propranolol (20 mg, three times daily) was used to treat 2 adult female patients in their mid- to late fifties, both of whom had symptomatic cavernous malformations and a history of repeated hemorrhage. Serial magnetic resonance imaging studies after the initiation of propranolol demonstrated regression of the lesions and no evidence of recurrent hemorrhage. Propranolol may offer a safe and effective treatment for patients who have cavernous malformations with symptomatic hemorrhage. Additional studies are needed to confirm these findings. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. A familial venous malformation locus is on chromosome 9p

    SciTech Connect

    Boon, L.M.; Mulliken, J.B.; Vikkula, M.

    1994-09-01

    Venous malformation is the most common vascular malformation affecting 0.2% of the population. Depending upon size and location, these slow-flow lesions may cause pain, anatomic distortion and threaten life. Most venous malformations occur sporadically and present as solitary lesions. For this reason, determining their pathogenic bases has proven elusive. However, venous malformations also occur in several rare syndromes, some of which demonstrate Mendelian inheritance. As a first step towards identifying the pathogenic bases for these lesions, we have mapped a locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24.5 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. A maximum LOD score of 4.11 at {theta} = 0.05 is obtained with several markers within the interval. The interferon gene cluster, which has previously been implicated in angiogenesis, and the multiple tumor suppressor gene, responsible for several types of malignant tumors, also lie within this interval and are potential candidates.

  7. Gross congenital malformation at birth in a government hospital.

    PubMed

    Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

    2014-01-01

    A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management.

  8. Neurodevelopmental Malformations of the Cerebellar Vermis in Genetically Engineered Rats.

    PubMed

    Ramos, Raddy L; Van Dine, Sarah E; Gilbert, Mary E; Leheste, Joerg R; Torres, German

    2015-12-01

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformations are almost exclusively found along the primary fissure and are indicative of deficits of neuronal migration during cerebellar development. In the present report, we test the prediction that genetically engineered rats on Sprague-Dawley or Long-Evans backgrounds will also exhibit the same cerebellar malformations. Consistent with our hypothesis, we found that three different transgenic lines on two different backgrounds had cerebellar malformations. Heterotopia in transgenic rats had identical cytoarchitecture as that observed in wild-type rats including altered morphology of Bergmann glia. In light of the possibility that heterotopia could affect results from behavioral studies, these data suggest that histological analyses be performed in studies of cerebellar function or development when using genetically engineered rats on these backgrounds in order to have more careful interpretation of experimental findings.

  9. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  10. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  11. Carcinomas of the respiratory tract in hamsters given arsenic trioxide and/or benzo(a)pyrene by the pulmonary route

    SciTech Connect

    Pershagen, G.; Nordberg, G.; Bjoerklund, N.E.

    1984-08-01

    The pulmonary carcinogenicity of arsenic trioxide (As) alone and in combination with benzo(a)pyrene (BP) was studied in male Syrian golden hamsters given 15 weekly intratracheal instillations. The animals were divided into four groups: As, BP, As + BP, and controls. At each instillation about 3 mg/kg body wt As arsenic and/or 6 mg/kg body wt of BP was administered. All groups received a carrier dust (charcoal carbon), which increased the lung retention of arsenic, as well as sulfuric acid. Carcinomas of the larynx, trachea, bronchi, or lungs were found in 3, 17, and 25 of 47, 40, and 54 animals examined in the As, BP, and As + BP groups. No respiratory tract carcinomas were found in 53 control animals. The incidence of pulmonary adenomas, papillomas, and adenomatoid lesions was markedly higher in the As group than in the control group. Taken together the data provide strong evidence that arsenic trioxide can induce lung carcinomas. Furthermore, there was some evidence of a positive interaction between arsenic and BP in relation to adenomatous lung tumors, which could be of importance for the synergism between arsenic and smoking observed in smelter workers.

  12. Types of Pulmonary Hypertension

    MedlinePlus

    ... Hypertension The World Health Organization divides pulmonary hypertension (PH) into five groups. These groups are organized based ... lungs. Group 2 Pulmonary Hypertension Group 2 includes PH with left heart disease. Conditions that affect the ...

  13. Idiopathic Pulmonary Fibrosis

    MedlinePlus

    ... the NHLBI on Twitter. What Is Idiopathic Pulmonary Fibrosis? Pulmonary fibrosis (PULL-mun-ary fi-BRO-sis) is a ... time. The formation of scar tissue is called fibrosis. As the lung tissue thickens, your lungs can' ...

  14. Who Needs Pulmonary Rehabilitation?

    MedlinePlus

    ... recommend pulmonary rehabilitation (PR) if you have a chronic (ongoing) lung disease. He or she also may ... may benefit from PR if you have: COPD (chronic obstructive pulmonary disease). COPD includes emphysema (em-fi- ...

  15. HIV and Pulmonary Hypertension

    MedlinePlus

    ... 03-13T18:29:11+00:00 PH and HIV Print PH and HIV Brochure (PDF) Order Copies ... to know about pulmonary hypertension in connection with HIV? Although pulmonary hypertension and HIV are two separate ...

  16. Living with Pulmonary Embolism

    MedlinePlus

    ... on Twitter. Living With Pulmonary Embolism Pulmonary embolism (PE) usually is treated in a hospital. After leaving ... you're taking medicine. Medicines used to treat PE can thin your blood too much. This can ...

  17. What Causes Pulmonary Embolism?

    MedlinePlus

    ... this page from the NHLBI on Twitter. What Causes Pulmonary Embolism? Major Causes Pulmonary embolism (PE) usually begins as a blood ... from surgery or injured in other ways. Other Causes Rarely, an air bubble, part of a tumor, ...

  18. Living with Pulmonary Hypertension

    MedlinePlus

    ... Share this page from the NHLBI on Twitter. Living With Pulmonary Hypertension Pulmonary hypertension (PH) has no ... seek care right away. Emotional Issues and Support Living with PH may cause fear, anxiety, depression, and ...

  19. Management of patients with brain arteriovenous malformations.

    PubMed

    Söderman, Michael; Andersson, Tommy; Karlsson, Bengt; Wallace, M Christopher; Edner, Göran

    2003-06-01

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms-fixed or unstable-such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably <0.01% and the detection rate is about one per 100,000 person-years. Most AVMs are revealed in patients 20-40 years of age. Therefore, the risk of developing neurological symptoms from an AVM, usually because of haemorrhage, increases with patient age. In the young adult population, AVMs are significant risk factors for hemorrhagic stroke. This risk increases with AVM volume and is higher in centrally located AVMs. Almost all patients with AVM are subjected to treatment, either by surgery, radiosurgery or embolisation, with the functional aim of reducing the risk of haemorrhage or to alleviate neurological symptoms with an acceptable treatment risk. Few neurocentres have physicians highly skilled in all treatment modalities. Therefore, the prescribed treatment may not be defined from an objective assessment of what is optimal for each individual patient, but rather from local expertise. In this context, more and better data about the natural history and the outcome of different treatments, as well as predictive models, would be valuable to help to optimise the management. Management strategies obviously differ according to local preferences, but results presented in the literature suggest the following strategy: (I) cortically located AVMs with a nidus volume <10 ml could be operated, with or without presurgical embolisation, unless there is a single feeder that can easily be catheterised and embolised for

  20. Hypersexuality from resection of left occipital arteriovenous malformation.

    PubMed

    Cao, Yong; Zhu, Zhaohui; Wang, Rong; Wang, Shuo; Zhao, Jizong

    2010-01-01

    The authors report their experience on one patient with hypersexuality from resection of left occipital arteriovenous malformation. To the best of our knowledge, this is the first case reported in the literature. A 35-year-old right-handed female farmer suffered a sudden left occipital hemorrhage with subarachnoid and subdural hemorrhages of the left hemisphere. Transient left uncal herniation occurred at the onset and was released by conservative treatment. Digital subtraction angiography showed a brain left occipital arteriovenous malformation. After microsurgical resection of the arteriovenous malformation, the patient developed hypersexual behavior. Positron emission tomography showed hypermetabolism in the left frontal region and left posterior hippocampal gyrus and hypometabolism in the left anterior hippocampal gyrus and the left occipital surgical area. Theories concerning normal pressure perfusion breakthrough and specific areas in the brain responsible for the human sexual response are discussed.

  1. [Idiopathic intracranial hypertension in a patient with Chiari I malformation].

    PubMed

    Santos-Bueso, E; Porta-Etessam, J; Díaz-Valle, D; Benítez-del-Castillo, J M; Gegúndez-Fernández, J A; Vinuesa-Silva, J M; García-Sánchez, J

    2015-04-01

    The case involves a 22-year-old woman who presented with headache and decreased vision. She showed asymmetric papilledema, and a 6-mm tonsillar descent was observed in the image tests. She was diagnosed with secondary intracranial hypertension coinciding with the symptoms of a Chiari malformation (MC). Chiari malformation type I is the most common in this group of malformations, and is characterized by a greater than 5mm descent of the tonsils, being able to cause increased intracranial pressure and papilledema by blocking the flow of the cerebrospinal fluid. In this case, the MC was not the responsible for triggering the secondary intracranial hypertension, but a mere coincidence of both processes. Copyright © 2013 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  2. Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation.

    PubMed

    Abbas, Zaheer; Khani, Sepideh; Zare, Javad

    2017-01-01

    Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma. This report emphasizes the importance of careful examination and proper investigations of the plexiform neurofibroma prior to treatment strategies to avoid future complications. The rarity of plexiform neurofibroma in association with arteriovenous malformation at the same site was also highlighted in this report.

  3. Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation

    PubMed Central

    Abbas, Zaheer; Khani, Sepideh; Zare, Javad

    2017-01-01

    Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma. This report emphasizes the importance of careful examination and proper investigations of the plexiform neurofibroma prior to treatment strategies to avoid future complications. The rarity of plexiform neurofibroma in association with arteriovenous malformation at the same site was also highlighted in this report. PMID:28405554

  4. Genomic Variants and Variations in Malformations of Cortical Development

    PubMed Central

    Jamuar, Saumya S.; Walsh, Christopher A.

    2015-01-01

    Malformations of cortical development (MCD) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Advances in genetic tools have expanded our understanding of the genetics of these malformations over the past few years, with a number of new causative genes identified in patients with MCD. In addition, there has been a vast expansion in the phenotypic characterization of the known genes, with a wide range as well as severity of malformations being reported. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These “somatic” mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic etiology can help in guiding families in future pregnancies. Recent work has highlighted how elucidation of key molecular pathway can also allow for targeted therapeutic interventions. PMID:26022163

  5. Endovascular embolization of life threatening intracranial arterio-venous malformation.

    PubMed

    Khan, S U; Rahman, K M; Siddiqui, M R; Hoque, M A; Mondol, B A; Hussain, S; Mohammad, Q D

    2010-07-01

    Haemorrhagic stroke from cerebral arteriovenous malformations (AVMs) represents 2% of all hemorrhagic strokes. A clear understanding of the diagnostic and treatment algorithms of cerebral AVM management is very important, because AVMs are a cause of hemorrhage in young adults. Surgery, endovascular therapy, and radiosurgery can be used alone or in combination to treat an AVM. We reported a 40 years old man of cerebral arteriovenous malformation (AVM), complicated with intracerebral hemorrhage (ICH). Digital subtraction angiogram was done for diagnosis and endovascular embolization for treatment of the case. This is the first successful cerebral arteriovenous malformations (AVMs) embolization in any government hospital of Bangladesh. The aim of this case report is to inform about this new technologies and emerging treatment strategies in these areas.

  6. Cranial malformations in related white lions (Panthera leo krugeri).

    PubMed

    Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E

    2010-11-01

    White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions.

  7. Baller-Gerold syndrome associated with congenital portal venous malformation.

    PubMed Central

    Savarirayan, R; Tomlinson, P; Thompson, E

    1998-01-01

    We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and a congenital portal venous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal venous malformation. We discuss the diagnostic confusion between this syndrome and other overlapping malformation syndromes and propose optimal evaluation strategies aimed at clarifying the nosology of these syndromes. Images PMID:9733037

  8. Electroencephalography in congenital malformations of the central nervous system.

    PubMed

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

  9. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  10. Genes and brain malformations associated with abnormal neuron positioning.

    PubMed

    Moffat, Jeffrey J; Ka, Minhan; Jung, Eui-Man; Kim, Woo-Yang

    2015-11-05

    Neuronal positioning is a fundamental process during brain development. Abnormalities in this process cause several types of brain malformations and are linked to neurodevelopmental disorders such as autism, intellectual disability, epilepsy, and schizophrenia. Little is known about the pathogenesis of developmental brain malformations associated with abnormal neuron positioning, which has hindered research into potential treatments. However, recent advances in neurogenetics provide clues to the pathogenesis of aberrant neuronal positioning by identifying causative genes. This may help us form a foundation upon which therapeutic tools can be developed. In this review, we first provide a brief overview of neural development and migration, as they relate to defects in neuronal positioning. We then discuss recent progress in identifying genes and brain malformations associated with aberrant neuronal positioning during human brain development.

  11. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    PubMed Central

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient's risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis. PMID:27144044

  12. Brainstem cavernous malformations: Natural history versus surgical management.

    PubMed

    Walcott, Brian P; Choudhri, Omar; Lawton, Michael T

    2016-10-01

    While brainstem cavernous malformations were once considered inoperable, improvements in patient selection, surgical exposures, intraoperative MRI-guidance, MR tractography, and neurophysiologic monitoring have resulted in good outcomes in the majority of operated patients. In a consecutive series of 104 patients with brainstem cavernous malformations, only 14% of patients experienced cranial nerve or motor dysfunction that was worse at late follow-up, relative to their preoperative condition. Outcomes were predicted by several factors, including larger lesion size, lesions that crossed the midline, the presence of a developmental venous anomaly, older age, and greater time interval from lesion hemorrhage to surgery. The 14% of patients who experienced a persistent neurological deficit as a result of surgery, while substantial from any perspective, compares favorably with the risks of observation based on a recent meta-analysis. Curative resection is a safe and effective treatment for brainstem cavernous malformations that will prevent re-hemorrhage in symptomatic patients.

  13. Surgical treatment of varicose veins and venous malformations in Klippel-Trenaunay syndrome.

    PubMed

    Malgor, Rafael D; Gloviczki, Peter; Fahrni, Jennifer; Kalra, Manju; Duncan, Audra A; Oderich, Gustavo S; Vrtiska, Terri; Driscoll, David

    2016-04-01

    Klippel-Trenaunay syndrome (KTS) is a mixed mesenchymal malformation characterised by varicose veins, venous and capillary malformations, and hypertrophy of soft tissue and bone. The purpose of this study was to evaluate the surgical outcomes in KTS patients to provide standards for comparison with endovenous therapy. The clinical data of consecutive patient with KTS who underwent open venous surgical treatment between January 1987 and December 2008 were reviewed. Demographics, clinical presentation, operative data, and clinical outcomes were recorded. Follow-up information was obtained from the medical records, mailed questionnaires and phone calls. Descriptive statistics, the Kaplan-Meier method and Log-rank statistics were used where appropriate. Twenty-seven females and 22 males, (mean age 26.5 years, range 7.7-55.8) were included in this study. All had varicose veins, 36 (73%) had limb hypertrophy, and 33 (67%) had capillary malformations, with two of three clinical features present in all. The most frequent symptom was pain (N = 43, 88%). Forty-nine patients underwent operations on 53 limbs. Stripping of the GSV, small and accessory saphenous and lateral embryonic veins was performed in 17 (32%), 10 (19%), 9 (17%), and 15 (28%) limbs, respectively. Two patients developed deep vein thrombosis, one had pulmonary embolism (PE), and one patient had peroneal nerve palsy. Freedom from disabling pain at 1, 3 and 5 years was 95%, 77% and 59%, respectively, and freedom from secondary procedures was 78% at 3 years, and 74% at 5 years. At the last follow-up visit, the venous clinical severity score had decreased from 9.48 ± 3.27 to 6.07 ± 3.20 (P < 0.001). In selected symptomatic patients with KT syndrome, open surgical treatment is safe and durable. Three-fourths of the patients remain free of disabling pain at five years, but secondary procedures are required in one-fourth of the patients. These data can serve as standards for comparison of

  14. Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome

    PubMed Central

    Loomba, Rohit S; Geddes, Gabrielle

    2015-01-01

    Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome. PMID:26085772

  15. Endovascular embolization prior to surgical resection of symptomatic intralobar pulmonary sequestration in an adult.

    PubMed

    Avsenik, Jernej; Štupnik, Tomaž; Popovič, Peter

    2016-01-01

    Intralobar pulmonary sequestration is a rare congenital malformation, conventionally managed by surgical resection. Recently, the endovascular embolization has been proposed for the definite treatment of this disease. Additionally, preoperative embolization of aberrant arteries to minimize the risk of serious intraoperative haemorrhage has also been described. We report the case of 43-year old female patient who presented with cough and haemoptysis, and was successfully treated with endovascular embolization followed by a Video-assisted thoracoscopic wedge resection.

  16. A case of recurrent massive pulmonary embolism in Klippel–Trenaunay–Weber syndrome treated with thrombolytics

    PubMed Central

    Upadhyay, Hinesh; Sherani, Khalid; Vakil, Abhay; Babury, Mohammed

    2016-01-01

    Klippel – Trenaunay – Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. In this case, we present a patient with KTWS receiving chronic anticoagulation that had a massive pulmonary embolism and was successfully treated with thrombolytic therapy. The purpose of this case is to educate readers about this uncommon condition and to increase awareness, recognition and timely treatment of its most common complications, namely thrombosis and pulmonary embolism. PMID:27141435

  17. A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics.

    PubMed

    Upadhyay, Hinesh; Sherani, Khalid; Vakil, Abhay; Babury, Mohammed

    2016-01-01

    Klippel - Trenaunay - Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. In this case, we present a patient with KTWS receiving chronic anticoagulation that had a massive pulmonary embolism and was successfully treated with thrombolytic therapy. The purpose of this case is to educate readers about this uncommon condition and to increase awareness, recognition and timely treatment of its most common complications, namely thrombosis and pulmonary embolism.

  18. An increased incidence of total anomalous pulmonary venous connection among Hispanics in southern Nevada.

    PubMed

    Evans, William N; Acherman, Ruben J; Ciccolo, Michael L; Castillo, William J; Restrepo, Humberto

    2015-01-01

    Ethnicity may influence the occurrence of specific cardiac malformations. We retrospectively analyzed the occurrence of isolated total anomalous pulmonary venous connection in the Hispanic and non-Hispanic populations of Southern Nevada over a 10-year period from 2003 to 2013. The mean cases per 100,000 live births among Hispanics was 19.8 (99% confidence interval 5.9-33.7) and among non-Hispanics was 2.5 (99% confidence interval 0.4-4.6), P = 0.007. We found a significantly higher incidence of isolated total anomalous pulmonary venous connection in Hispanics vs. non-Hispanics. © 2014 Wiley Periodicals, Inc.

  19. [Pulmonary artery intimal sarcoma].

    PubMed

    Bourry, N; Chabrot, P; Jeannin, G; Filaire, M; Charpy, C; Bay, J O; Kemeny, J L; Caillaud, D; Escande, G; Boyer, L

    2008-02-01

    Pulmonary artery sarcoma is a rare tumor. We present a case of intimal sarcoma arising from right pulmonary artery and left lower pulmonary vein observed in a 44-year-old man with a non-productive cough. Computed tomographic scans and magnetic resonance imaging showing filling defect enhancement contributed early, suggesting the diagnosis of primary vascular tumor, hypothesis confirmed by pathologist findings.

  20. Diffusion imaging and tractography of congenital brain malformations.

    PubMed

    Wahl, Michael; Barkovich, A James; Mukherjee, Pratik

    2010-01-01

    Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their application to fiber tractography, has elucidated the aberrant connectivity underlying a number of congenital brain malformations. Finally, we discuss potential uses for diffusion imaging of developmental disorders in the clinical and research realms.

  1. Vascular malformations: an update on imaging and management.

    PubMed

    Sierre, Sergio; Teplisky, Darío; Lipsich, José

    2016-04-01

    Vascular malformations comprise a broad and heterogeneous range of lesions that often represent a diagnostic and therapeutic challenge for the pediatrician. For a long time, the use of an inaccurate nomenclature has led to confusion. Since management depends on the specific vascular malformation, a proper classification and identification is critical. The objective of this article is to provide the necessary information about the current classification and terminology of vascular anomalies, including basic concepts about available imaging diagnostic and therapeutic tools for the management of such complex condition.

  2. Split cervical spinal cord malformation and vertebral dysgenesis.

    PubMed

    Andro, C; Pecquery, R; De Vries, P; Forlodou, P; Fenoll, B

    2009-11-01

    We report a case of vertebral malformation associated with diplomyelia believed to be a type II split cord malformation. Cervicothoracic level cases are exceptional. This article reports the case of an 11-year-old boy with no neurological symptoms who had not undergone surgery. The diagnosis was made during pregnancy by prenatal screening with ultrasound and MRI. Several embryological theories have been offered to provide an explanation for this syndrome. Close follow-up is mandatory. Surgery must only be considered if neurological deterioration occurs.

  3. [Type I Chiari malformation associated with cerebellar atrophy. Case report].

    PubMed

    Moscote-Salazar, Luis Rafael; Calderón-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Lee-Aguirre, Ángel; Alcalá-Cerra, Gabriel

    2017-01-01

    Chiari malformation is characterized by caudal displacement of the cerebellar tonsils that penetrate into the spinal canal through the foramen magnum, achieving reach the atlas or axis. trunk and any drop of the fourth ventricle is observed. Typically is seen in young adults. In some cases scoliosis and Syringomyelic cavities may occur. The authors present (as far as they know) the first case in the literature with long term follow-up, of a caucasian woman with an unusual form of cerebellar atrophy and Chiari Type I malformation, suffering from weakness in his upper and lower extremities with rapidly progression. The patient was successfully treated with suboccipital decompression and C1 laminectomy.

  4. Antenatal diagnosis of congenital renal malformations using ultrasound.

    PubMed

    Sanghvi, K P; Merchant, R H; Gondhalekar, A; Lulla, C P; Mehta, A A; Mehta, K P

    1998-08-01

    Our objectives were to determine the accuracy of antenatal sonography for the detection of congenital renal malformations and to characterize the type of malformations, seen in a 3-year prospective study at a university-affiliated maternity hospital. Participants were 31,217 pregnant women, during the study period, and subjects were 65 fetuses in whom renal malformations were detected on antenatal ultrasound. Pelvic ultrasound scans were performed at least once between 20 and 37 weeks' gestation on all pregnant women attending the antenatal clinic of the hospital for the detection of renal malformations. Fetal urinary sampling, diversion procedures, or termination of pregnancy were carried out as required in those detected to have renal anomalies. Postnatal diagnosis was confirmed by sonography or autopsy. Diagnostic procedures and renal surgery were performed postnatally if indicated. Sixty-five fetuses (0.2 per cent) were diagnosed to have congenital renal malformation antenatally at a mean gestational age of 28.4 weeks. A dilated urinary system was seen in 39, cystic renal disease in 15, agenesis/hypoplasia in six, combined lesions in four, and a horseshoe kidney in one. Oligohydramnios was noted in 20 (31 per cent) pregnancies. Multiple congenital malformations associated with renal anomalies were detected in 12 pregnancies. Termination was carried out at 20 weeks in two pregnancies for lethal malformations; fetal urinary sampling was done in two fetuses with obstructed uropathy, and a vesicoamniotic shunt inserted in one. Postnatal ultrasound confirmed a dilated urinary system in 32, cystic renal dysplasia in 15, renal aplasia/hypoplasia in five, combined lesions in six, and a horseshoe and an ectopic kidney in one each. Five infants were found to be normal. There were seven stillbirths and seven neonatal deaths. Radionuclide scans showed obstruction in nine, decreased renal function in six, and absent renal functions in 10 infants. Micturating

  5. Nursery care of the newborn with malformation syndrome.

    PubMed

    Pluchinotta, Francesca Romana; Memo, Luigi

    2009-10-01

    Congenital malformations are not so rare, and represent a relevant challenge to health care providers. We delineate a methodology for the clinical approach to the malformed newborn, that takes into account the needs of the patient as single person and as part of a familiar and social context. We consider first the medical problem that the neonatologists face in the nursery and neonatal intensive care unit regarding clinical assistance, diagnosis, parent counselling and hospital discharge. Then we focus on the periodic follow-up, and the role of the primary care physician and the specialist in the assistance of this patients.

  6. Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome.

    PubMed

    Göksu, Ethem; Alpsoy, Erkan; Uçar, Tanju; Tuncer, Recai

    2012-01-01

    Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital vascular disorder characterized by cutaneous haemangiomas, venous varicosities, and hypertrophy of the osseous and soft tissue. Various vascular anomalies of the central nervous system have been described in this syndrome. Two previous associations between KTWS and spinal cord cavernous malformations have been reported in the English literature. In this report, we present a patient in whom multiple cavernous malformations located in the conus medullaris region and cauda equina were associated with KTWS. General physical examination as well as neuroradiological and operative findings are described.

  7. Massive Intracerebral Hemorrhage Caused by a Cavernous Malformation

    PubMed Central

    Kim, Young Soo; Lee, Jae Il; Choi, Chang Hwa

    2012-01-01

    We present a rare case of massive intracerebral hemorrhage resulting from a small, superficially-located supratentorial cavernous malformation, or cavernoma. These lesions rarely lead to massive, life-threatening intracerebral hemorrhages. A 17-year-old female presented with a 3-week history of declining mental status. Brain computed tomography and magnetic resonance imaging revealed a sizable intracranial hemorrhage, within the right occipital region, associated with a small nodule at the hematoma's posterior margin. An emergency operation removed the entire hematoma and nodule. Histological examination of the nodule was compatible with a diagnosis of cavernous malformation. The patient's post-operative course was uneventful. PMID:22396841

  8. Influence of maternal distress during pregnancy on fetal malformations.

    PubMed

    Blomberg, S

    1980-10-01

    The aim of the study was to investigate whether emotional stress in a pregnant woman might have an adverse effect in the form of malformations on fetal development. The children of 1,263 women whose applications for legal abortion in 1960 had been refused were compared with the next children born in the same delivery wards and paired matched controls were thereby obtained. Results. 1) The incidence of malformations according to the criteria established by the Swedish Register of Malformations was 1.8% in the proband series as against 1.1% in the control series. 2) The incidence of malformation increased with higher age and lower social class in the proband series, whereas no such connection was found in the control series. 3) The incidence of malformations for children of abortion applicants 25 years of age and above from social class III was 3% in the proband series as against 0.6% in the control series (P = 0.017). 4) One malformation, cleft palate, occurred at a significantly (P less than 0.01) higher incidence than in the country as a whole, four cases against the expected value of 0.69. 5) Etiological analysis showed that three of the cases were chromosomal aberrations, all of them Down's syndrome, in two cases there was a genetic background and two cases were thalidomide-induced phocomelia. In three proband children there may have been a connection with the abuse of alcohol by the mother. 6) When the chromosomal, genetic and thalidomide cases are excluded, the preponderance of malformations in the proband children of mothers 25 years of age and above belonging to social class III still remains (2.2% vs. 0.3%, P = 0.017). Conclusion. The results may be seen as support for the hypothesis that emotional stress in a pregnant woman, operationally defined by the factor unwanted pregnancy, may interfere with fetal development and result in a higher incidence of malformations. The interference may occur directly via psycho-endocrinal or autonomous mechanisms or

  9. [Urinary tract abnormalities with anorrectal malformations (author's transl)].

    PubMed

    Nogués, A; Ceres, M L; Olagüe, R; Andrés, V; Lanuza, A

    1978-01-01

    Thirty five patients with anorrectal malformations are reviewed. These are divided in high and low anomalies according to some simple clinical data, better than the drawing of reference lines to determinate the height of puborrectalis muscle. Malformations were associated in 13 cases with urinary tract estructural anomalies and in four cases with isolated vesico-ureteral reflux. Diagnosis of urinary tract infection was made in 14 patients, 12 of them with recto-urinary fistula. A point is made about the complete and early exploration of all these patients to prevent irreparable renal damage that could be developed.

  10. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  11. [Risk of missed diagnosis of 22q11.2 deletion in a fetal cardiac conotruncal malformation when another chromosomal abnormality is detected].

    PubMed

    Picone, O; Brisset, S; Senat, M-V; Maurin, M-L; Frydman, R; Tachdjian, G

    2008-05-01

    We present a rare case of prenatal diagnosis of two de novo chromosome structural rearrangements including a translocation (1;3) associated with a 22q11.2 deletion. The amniocentesis was performed because the systematic ultrasound examination revealed: right aortic cross with double aortic arch, with normal size of aorta and pulmonary artery. Our report emphasises that 22q11.2 deletion must be looked for when a fetal cardiac conotruncal malformation is diagnosed, even in the presence of another chromosomal abnormality. In prenatal diagnosis, this can have implication for patient management and genetic counselling.

  12. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

  13. [Colon aganglionosis in patients with anorectal malformation. Analysis of five cases].

    PubMed

    Jiménez-Urueta, Pedro Salvador; Alvarado-García, Rafael; Gallego-Grijalva, Jorge E

    2005-01-01

    The association of colon aganglionosis and anorectal malformation is very rare. The objective is to show five clinical cases of anorectal malformation associated with Hirschprung's disease and its treatment and evolution. A retrospective, transverse, descriptive study was carried out at the National Medical Center "20 de Noviembre ISSSTE" from 1984 to 1999 that included all files of patients with anorectal malformation associated with Hirschprung's disease corroborated by histopathological studies. From 151 patients with anorectal malformation studied during a period of 15 years, there were five cases (3.2%) of patients found with anorectal malformation associated with Hirschprung's disease. Of these, two were female. Three patients presented with lower anorectal malformation and two with high anorectal malformation. The association of colon aganglionosis and anorectal malformation should be suspected when the patient evolution during the postoperative period presents abdominal distension, constipation, urinary infection and in younger children with necrotizing enterocolitis.

  14. Consensus conference on Chiari: a malformation or an anomaly? Scoliosis and others orthopaedic deformities related to Chiari 1 malformation.

    PubMed

    Colombo, Luca F; Motta, Francesco

    2011-12-01

    In this article, we analysed the orthopaedic malformation in patients affected by Chiari I malformations as well as conservative or surgical treatment. The most common deformity in these patients is scoliosis. Different studies suggest a causal relation between syringomyelia and spinal deformities that differ by the type of deformities: asymptomatic scoliosis is characterized by a higher incidence of a single curve and convexity to the left, while symptomatic scoliosis is characterized by a double thoracolumbar curve. The conservative treatment with brace in these patients is not effective and scoliosis is typically evolutive. The evidence of the international data is that in patients without myelomeningocele or congenital scoliosis, but with Arnold Chiari I malformation and syringomyelia, suboccipital craniectomy gives the best chance for syrinx reduction and scoliosis improvement, particulary in children younger than 10 years and below a Cobb angle of 30°. The orthopaedic treatment in late decompression or in progressive curve is spine arthrodesis.

  15. Goldenhar Syndrome Associated with Extensive Arterial Malformations

    PubMed Central

    Modica, Renee Frances; Barbeau, L. Daphna Yasova; Co-Vu, Jennifer; Beegle, Richard D.; Williams, Charles A.

    2015-01-01

    Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant's presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes. PMID:26688769

  16. Arteriovenous malformation of brain with stroke in Down syndrome: a case report

    PubMed Central

    Prasad, Rajniti; Singh, Utpal Kant; Mishra, Om Prakash

    2009-01-01

    Down syndrome is a common chromosomal aberration in children. A variety of associated malformations have been reported in the literature, including vascular malformations of pelvic organs. The vascular malformations of brain with Down syndrome have not been reported in the literature. Therefore, we report a child with Down syndrome, with associated arteriovenous malformation in the brain, who developed stroke and was treated successfully. PMID:21686822

  17. Congenital bilateral perisylvian syndrome (CBPS): do concomitant esophageal malformations indicate a poor prognosis?

    PubMed

    Küker, W; Friese, S; Riethmüller, J; Krägeloh-Mann, I

    2000-12-01

    Congenital bilateral perisylvian syndrome (CBPS) is a syndrome of cortical malformation characterized by faciopharyngoglossomasticatory diplegia. We report on two cases of CBPS with associated esophageal malformations and a poor mental and motor development. The association of CBPS and esophageal malformations may indicate a subgroup of patients with a very early prenatal injury, characterised by a bad prognosis due to severe cortical disorganization. However, it can not be excluded that the association of CBPS and esophageal malformation is purely coincidental.

  18. Diffusion-weighted imaging in fetuses with unilateral cortical malformations and callosal agenesis.

    PubMed

    Glenn, O A; Quiroz, E M; Berman, J I; Studholme, C; Xu, D

    2010-06-01

    DWI was performed in fetuses with callosal agenesis and unilateral cortical malformations. ADC values were retrospectively measured in the developing white matter underlying the cortical malformation and compared with the corresponding contralateral white matter. In all 3 patients, ADC values were lower under the areas of cortical malformation compared with the normal contralateral side. Our findings suggest that there are structural differences in the developing white matter underlying areas of cortical malformation.

  19. Pulmonary Artery Sarcoma

    PubMed Central

    Shomaf, Maha; Obeidat, Nathir; Najjar, Saleh

    2014-01-01

    Pulmonary artery sarcomas (PAS) are extremely rare sarcomas of uncertain histogenesis that often mimic pulmonary thromboemboli. This is a report of a 60-year-old female patient who presented with recurrent chest pain and cough. The patient was first diagnosed with pulmonary embolism but she did not improve on anticoagulant therapy. Follow-up imaging studies revealed a mass in the left hilar region extending into the pulmonary trunk and branches of the left pulmonary artery. The tru-cut biopsy revealed an undifferentiated sarcoma. The patient died 10 months after her initial presentation. PMID:26425600

  20. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    PubMed

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.