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Sample records for congenital desmoid tumor

  1. Genetics Home Reference: desmoid tumor

    MedlinePlus

    ... in my area? Other Names for This Condition aggressive fibromatosis deep fibromatosis desmoid fibromatosis familial infiltrative fibromatosis ... catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997 Aug; ...

  2. Update on desmoid tumors.

    PubMed

    Escobar, C; Munker, R; Thomas, J O; Li, B D; Burton, G V

    2012-03-01

    Desmoid tumors (DTs) are histologically benign proliferations of stromal cells but may grow locally aggressive. Overall, DTs are rare (0.03% of all neoplasms). A minority of DTs is associated with Gardner syndrome and mutations of the familial adenomatous polyposis (FAP) gene. Most spontaneous DTs are associated with mutations of the beta-catenin gene. This mutation results in the activation of Wnt/catenin signaling. Due to their variable clinical presentation and behavior, no standard approach for DTs can be recommended. In most cases of DTs of the extremities surgical extirpation is indicated, whereas in many other cases, a multimodal and multidisciplinary concept should be followed. In this review article, we discuss the diagnosis, pathogenesis, and treatment options for DTs, including targeted therapy with tyrosine kinase inhibitors.

  3. Desmoid tumor following abdominally-based free flap breast reconstruction

    PubMed Central

    Oh, Christine; Hammoudeh, Ziyad S.

    2017-01-01

    Desmoid tumors are fibroblastic connective tissue tumors that most commonly develop within the anterior abdominal wall. The etiology of desmoid tumors has not been well defined; however, hereditary, hormonal, traumatic, and surgery-related causes have been implicated. Desmoid tumors are believed to arise from musculoaponeurotic structures. Development in the breast is very rare. Several reports of desmoid tumors arising in the vicinity of the fibrous capsule of a breast implant have been described, but to date, the authors are not aware of any published cases following autologous breast reconstruction. This report describes a desmoid tumor developing after a muscle-sparing free transverse rectus abdominis musculocutaneous (TRAM) flap for breast reconstruction and subsequent surgical management. PMID:28210557

  4. [Intraabdominal desmoid tumors in familial adenomatous polyposis].

    PubMed

    Galletto, Paula; Leoz, Maria Liz; Castells, Antoni; Balaguer, Francesc

    2013-11-01

    Desmoid tumors are currently the main cause of morbidity and mortality in patients with familial adenomatous polyposis. More than 10% of these patients will develop these tumors during their lifetime and more than a third will suffer their consequences. The main risk factors for their development are female sex and abdominal surgery. The most frequent localization is intraabdominal. The therapeutic approach to these tumors has changed, and the surgical treatment of choice is currently the subject of debate. If a watch and wait approach is adopted, more than 50% of tumors will prove to be indolent. Therefore, the therapeutic strategy should be based on clinical presentation and should be decided by a multidisciplinary team working in a center with experience of these tumors. The present article proposes a prognostic classification to guide the therapeutic approach.

  5. Desmoid tumor of the abdominal wall: a case report

    PubMed Central

    2011-01-01

    Introduction Desmoid tumors are rare lesions without any metastatic potential but a strong tendency to invade locally and to recur. These tumors are associated with women of fertile age, especially during and after pregnancy. Case presentation The case of a desmoid tumor of the anterior abdominal wall in a 40-year-old Caucasian man with no relevant family history is presented, describing its appearance on computed tomography and ultrasonography. The patient, who presented with a painless mass in the left anterolateral abdomen, had a history of previous urgent abdominal surgery after a shotgun injury two years earlier. Radical resection of the affected abdominal wall musculature was performed, and the defect was reconstructed with polypropylene mesh. Conclusion The diagnosis of desmoid tumor should be strongly considered even in male patients with an abdominal mass and a history of previous abdominal surgery. The goal of its treatment is complete tumor excision and avoidance of the development of complications such as hernia. PMID:21787413

  6. Bilateral desmoid tumor of the breast: case seriesand literature review

    PubMed Central

    Wongmaneerung, Phanchaporn; Somwangprasert, Areewan; Watcharachan, Kirati; Ditsatham, Chagkrit

    2016-01-01

    Background Desmoid tumor of the breast is very rare and locally aggressive but has no distant metastasis. Bilateral lesions are extremely rare, found in only 4% of patients. Two cases of bilateral desmoid tumor of the breast are reported. The clinical presentation, diagnosis, imaging, treatment, and follow-up outcomes of recurrence as well as a brief literature review are provided. Case reports Case 1 is a 31-year-old woman who presented with nipple retraction. An ultrasound revealed BIRAD V in both breasts. She underwent a bilateral excisional biopsy under ultrasound mark with the pathology result of extra-abdominal desmoid tumor in both breasts. The patient had a bilateral mastectomy with silicone implantation due to the involved margins by excision. She remained tumor free after 7-year follow-up. Case 2 is a 28-year-old woman who presented with a lump on her right breast that she had discovered ~2 months earlier. An ultrasound showed a spiculated mass in the right breast and some circumscribed hypoechoic masses in both breasts. A bilateral breast excision was done. The pathology result was an extra-abdominal desmoid tumor. She had recurrence on both sides and underwent a mastectomy and silicone implantation. The tumor has not recurred after 1-year follow-up. Conclusion Imaging cannot distinguish between benign breast lesions and malignancy. Pathology results are helpful in making a definitive diagnosis. Given that the desmoid tumor is locally aggressive, a local excision with clear margins is recommended. Chemotherapy and hormonal treatment are controversial. PMID:27578999

  7. Complete response to exemestane in a patient with a desmoid tumor.

    PubMed

    Debled, Marc; Le Loarer, François; Callonnec, Françoise; Soubeyran, Isabelle; Cambon-Michot, Chantal; Dujardin, Franck; Italiano, Antoine

    2012-04-01

    Desmoid tumors are rare mesenchymal neoplasms without metastatic potential. Despite the benign nature of this condition, some patients develop disease progression despite all locoregional options for care. Aggressive forms of desmoid tumors may induce morbidity that can lead to physical impairment and mortality that is occasionally observed as a result of local infiltrative growth and tissue invasion, in particular with abdominal disease. Few therapeutic options are available for patients with recurrent/unresectable desmoid tumors. Several studies have suggested the potential benefit of antiestrogens such as tamoxifen in this setting. Here we report the first description of the efficacy of an aromatase inhibitor in a patient with a desmoid tumor.

  8. Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features

    PubMed Central

    Majors, Jaqueline; Stoikes, Nathaniel F.; Nejati, Reza

    2016-01-01

    Desmoid tumors are rare, musculoaponeurotic mesenchymal origin tumors arising from the proliferation of well-differentiated fibroblasts. Desmoid tumors may arise from any location with the abdominal cavity, abdominal wall and extremity locations being most frequent. We present the case of a 35-year-old female with a history of endometriosis who presented palpable abdominal mass and cyclic abdominal pain. Resection was performed for a presumed desmoid soft tissue tumor. Final pathology demonstrated desmoid histology admixed with abdominal wall endometriosis (endometrioma). This unique pathologic finding has only been rarely reported and is discussed with a brief review of the literature. PMID:27247824

  9. Treatment of Extra — Abdominal Desmoid Tumors with Chemotherapy

    PubMed Central

    Montgomery, Corey; Emory, Cynthia; Adams, Sheila; Cohen, Jonathan; Pitcher, John David; Potter, Benjamin Kyle; Temple, H. Thomas

    2011-01-01

    Fibromatosis, or extra-abdominal desmoid tumor, is a benign disease which often has an aggressive clinical course that can be difficult to treat. We performed a retrospective review of 16 patients (12 females and four males) with a mean age of 34.2 years treated with methotrexate and vinblastine for newly diagnosed or recurrent extra-abdominal desmoid tumor. The mean age of our patient cohort was 34.2 years (range 11–70), and the mean tumor size was 11.5 cm (range 2.5–21.2 cm). The mean duration of therapy was 12 months with an average follow-up of 43 months (range 1–149 months). Fourteen of 16 patients demonstrated a clinical response to treatment. Eight of 14 patients demonstrated a radiologic decrease in tumor size. Only one patient progressed on therapy. Six patients developed recurrent symptoms after discontinuation of treatment. Chemotherapy-related symptoms including neutropenia, nausea, and vomiting were common and observed in most patients, however these side effects were mild and transient. Five patients developed peripheral neuropathy that prompted a change from vinblastine to vinorelbine during treatment. One potentially life-threatening complication (pneumocystis pneumonia) occurred which was diagnosed early and successfully treated. The use of methotrexate and vinblastine/vinorelbine in the management of fibromatosis appears to be an effective treatment with minimal treatment-related side effects. PMID:24212959

  10. Pancreatic solid cystic desmoid tumor: case report and literature review.

    PubMed

    Xu, Bin; Zhu, Ling-Hua; Wu, Jia-Guo; Wang, Xian-Fa; Matro, Erik; Ni, Jun-Jun

    2013-12-14

    Desmoid tumors (DTs) are nonmetastatic, locally aggressive neoplasms with a high rate of postoperative recurrence. Pancreatic DTs are especially rare; only a few cases have been reported to date. This paper describes a case of a sporadic cystic DT of the pancreas managed successfully with central pancreatectomy, with no signs of recurrence 40 mo after surgery. According to the literature, this is the first reported case in China of a pancreatic DT presenting as a solid cystic lesion, as well as the first pancreatic DT managed with central pancreatectomy and pancreaticogastrostomy. We report the case for its rarity and emphasize disease management by concerted application of clinical, pathological, radiological and immunohistochemical analyses.

  11. Functional and Aesthetic Thorax Reconstruction after Desmoid Tumor Resection

    PubMed Central

    Acosta-Ponce de Leon, Eric; Sanchez-Sosa, Sergio

    2017-01-01

    Summary: This study describes a case report of a 31-year-old patient who presented with a left thoracic tumor on costal cartilages 5 and 6 that was diagnosed as a desmoid tumor 3 years after receiving retropectoral breast implants for cosmetic reasons. The integral reconstruction of the thoracic wall, functional and aesthetic, was planned for a single surgical period. The defect secondary to the tumor resection, which left the pericardium and lung exposed, was closed using the pectoral muscle as a “pre-expanded” flap by the breast implant, and the breast aesthetic was treated bilaterally with new implants in the retromammary position. After 12 months, the patient remained free from tumor recurrence and had a satisfactory aesthetic result. PMID:28280682

  12. Antitumor effects of hyaluronan inhibition in desmoid tumors.

    PubMed

    Briggs, Alexandra; Rosenberg, Laura; Buie, Justin D; Rizvi, Hira; Bertagnolli, Monica M; Cho, Nancy L

    2015-02-01

    Desmoid tumors (DTs) are rare, mesenchymal tumors that exhibit features of an abundant wound healing process. Previously, we showed that mesenchymal stem cells (MSCs) are constituents of DTs and may contribute to desmoid tumorigenesis via activities associated with wound healing. Hyaluronan (HA) is a long-charged chain of repeating glucuronate and N-acetylglucosamine disaccharides that is synthesized by HA synthases (HAS) and degraded by hyaluronidases (HYAL). HA is secreted into the extracellular matrix by injured stroma and is important for normal tissue repair and neoplastic progression. Here, we investigated the presence of HA in DTs and the antitumor effects of the HA inhibitor, 4-methylumbelliferone (4-MU), on DT-derived mesenchymal cells. By immunohistochemistry and enzyme-linked immunosorbent assay, we found abundant expression of HA in 29/30 DTs as well as >5-fold increased HA levels in DT-derived cell lines relative to controls. Immunohistochemistry also demonstrated high expression of HAS2 in DTs, and quantitative PCR analysis showed increased HAS2 upregulation in frozen DTs and DT-derived cells. 4-MU treatment of DT-derived cells significantly decreased proliferation as well as HA and HAS2 levels. Fluorescent immunohistochemistry showed that MSCs in DTs coexpressed HA, HAS2, HYAL2, as well as the major HA receptor CD44 and HA coreceptor TLR4. Taken together, our results suggest that paracrine regulation of HA signaling in DTs may contribute to MSC recruitment and tumor proliferation. Future studies investigating the role of HA in tumor-stroma crosstalk and inhibition of HA-MSC interactions as a novel therapeutic target in DTs and other solid tumors are warranted.

  13. Role of Radiotherapy in the Management of Desmoid Tumors

    SciTech Connect

    Gluck, Iris; Griffith, Kent A.; Biermann, J. Sybil; Feng, Felix Y.; Lucas, David R.; Ben-Josef, Edgar

    2011-07-01

    Purpose: To identify high-risk patients with desmoid tumors who could benefit from postoperative radiotherapy (RT) and to determine the efficacy of postoperative and definitive RT. Materials and Methods: Retrospective analysis of clinical data for all patients with desmoid tumors who underwent definitive local therapy at the University of Michigan from 1984 through 2008. Estimates for local control were calculated using the product-limit method of Kaplan and Meier, and associations with patient, tumor, and RT characteristics were explored using Cox proportional hazard regression. Results: Treatment for 95 patients who qualified for the study included surgery, RT, or both in 54, 13, and 28 cases, respectively. With a median follow-up of 38 months, the actuarial 3-year local control (95% confidence interval [CI]) was not significantly different (p = 0.3) among the three treatment groups: 84.6% (70.2-92.4), 92.3% (56.6-98.9), and 69.0% (43.1-84.9), respectively. Tumor site in the head/neck (p = 0.03) and history of previous surgical therapy (p = 0.01) were associated with increased recurrence risk (HR = 2.8, 95% CI 1.1-7.4, and HR = 3.2, 95% CI = 1.3-7.8), whereas gender, age, use of RT, and positive margins were not (p > 0.2). Conclusions: Our findings suggest equivalent local control rates after surgery, RT, or a combination of both. Although history of previous surgical therapy or site of origin in the head/neck region were found to be associated with increased risk of recurrence after local therapy, there was no clear association between surgical margin status and local control.

  14. Desmoid Tumor of the Chest Wall Mimicking Recurrent Breast Cancer: Multimodality Imaging Findings

    PubMed Central

    Choi, Kyeong A; An, Yeong Yi

    2016-01-01

    Desmoid tumor of breast is a rare benign, locally aggressive tumor with a high recurrence rate. It has been associated with scar from previous breast surgery or trauma. Especially in breast cancer patients with previous operation history, it may simulate recurrent breast cancer clinically and radiologically. We presented multimodality imaging findings (ultrasound, computed tomography, magnetic resonance imaging and positron emission tomography/computed tomography) of chest wall desmoid tumor mimicking recurrent breast cancer in a 38-year-old patient with a history of left modified mastectomy. The desmoid tumor is a rare benign tumor that should be considered in the differential diagnosis of malignant local tumor recurrence after breast cancer operation. Biopsy was required for accurate diagnosis and wide local excision was its appropriate surgical management. PMID:27895871

  15. [Effect of transarterial chemoembolization for recurrent desmoid tumor - a case report].

    PubMed

    Hori, Atsushi; Murata, Shinichi; Kono, Michihiko; Maeda, Masahiko; Sueyoshi, Satoshi; Seki, Akihiko; Nabiki, Junko; Hori, Shinichi; Kudawara, Ikuo

    2013-09-01

    Desmoid fibromatosis is classified as a benign soft tissue tumor regardless of its local invasive behavior and its, local recurrence rate is 57-85% after local resection. A 19 y/o male patient with post-operative recurrence of a desmoid tumor in the shoulder was initially treated by arterial embolization; however, no improvement of symptoms was obtained. As second-line treatment, 20 mg of epirubicin, 50 mg of cisplatin and 250 mg of 5-FU were infused to tumor-related arteries and embolization was performed with a super absorbent polymer microsphere. After a single session of treatment, reduction of tumor size and improvement of symptoms were achieved. The same treatment was repeated three times without major complications. Considerable reduction of tumor was obtained after treatment. Chemo-embolization should be considered for the postoperative recurrence of desmoid fibromatosis, in order to prevent loss of function and maintain a high QOL for the patient.

  16. Desmoid Tumor of the Anterior Abdominal Wall in Female Patients: Comparison with Endometriosis

    PubMed Central

    Krentel, H.; Tchartchian, G.; De Wilde, R. L.

    2012-01-01

    In female patients presenting a tumor of the lower abdominal wall especially after cesarian section, an endometriotic tumor as well as an aggressive desmoid tumor should be considered. Symptoms in correlation with the monthly period can facilitate the presurgical differentiation between endometriosis and fibromatosis. Ultrasound reveals the typical location of both tumors and its remarkable sonographic appearance. In the clinical practice, the desmoid fibromatosis of the lower abdominal wall is a very rare disease. We present a case of a 25-year-old pregnant and discuss diagnostic and therapeutic options by a PubMed literature review. With the knowledge of the prognosis of the desmoid fibromatosis and the respective treatment options including wait and see, complete surgical resection with macroscopically free margins and adjuvant approaches is essential to avoid further interventions and progression of the locally destructive tumor. PMID:22778752

  17. Mediastinal Desmoid Tumor With Remarkably Rapid Growth: A Case Report.

    PubMed

    Lee, Joon Hyung; Jeong, Jae Seok; Kim, So Ri; Jin, Gong Yong; Chung, Myoung Ja; Kuh, Ja Hong; Lee, Yong Chul

    2015-12-01

    Desmoid tumors (DTs) are a group of rare and benign soft tissue tumors that result from monoclonal proliferation of well-differentiated fibroblasts. Since DTs tend to infiltrate and compress adjacent structures, the location of DTs is one of the most crucial factors for determining the severity of the disease. Furthermore, DTs can further complicate the clinical course of patients when the growth is remarkably rapid, especially for DTs occurring in anatomically critical compartments, including the thoracic cavity.The authors report a case of a 71-year-old man with a known mediastinal mass incidentally detected 4 months ago, presenting dyspnea with right-sided atelectasis and massive pleural effusion. Imaging studies revealed a 16.4 × 9.4-cm fibrous mass with high glucose metabolism in the anterior mediastinum. The mass infiltrated into the chest wall and also displaced the mediastinum contralaterally. Interestingly, the tumor had an extremely rapid doubling time of 31.3 days.En bloc resection of the tumor was performed as a curative as well as a diagnostic measure. Histopathologic examination showed spindle cells with low cellularity and high collagen deposition in the stroma. Immunohistochemical staining was positive for nuclear β-catenin. Based on these pathologic findings, the mass was diagnosed as DT. After surgery, there has been no evidence of recurrence of disease in the patient.This patient presents a mediastinal DT with extremely rapid growth. Notably, the doubling time of DT in our case was the shortest among reported cases of DT. Our experience also highlights the benefits of early interventional strategy, especially for rapidly growing DTs in the thoracic cavity.

  18. Low-dose dacarbazine-doxorubicin therapy against intra-abdominal desmoid tumors.

    PubMed

    Yamamoto, Hirofumi; Oshiro, Ryota; Nishimura, Junichi; Uemura, Mamoru; Haraguchi, Naotsugu; Hata, Taishi; Takemasa, Ichiro; Mizushima, Tsunekazu; Sekimoto, Mitsugu; Doki, Yuichiro; Mori, Masaki

    2013-05-01

    Intra-abdominal desmoid tumor is a life-threatening disease. Studies have shown that dacarbazine (DTIC)-doxorubicin (DOX) (D-D) therapy is the most effective treatment. However, myelosuppression is a major problem, and cardiac muscle disorders due to DOX limit the number of administration cycles, whereas it usually requires a long time to achieve tumor shrinkage. To resolve these issues, we introduced low-dose D-D therapy to 3 patients employing 50 mg/m² DOX and 600-700 mg/m² DTIC per cycle, which permits repeated administration cycles up to 10-11 times. Case 1 was a 23-year-old female with a sporadic recurrent mesenterium desmoid tumor located in the pelvis (maximum diameter, 8 cm). Cases 2 and 3 were a 33-year-old female and a 36-year-old male. Both patients had intra-abdominal mesenterium desmoid tumors (maximum diameter 9.6 and 9.0 cm, respectively) that were generated after proctocolectomy due to familial adenomatous polyposis. No severe adverse events occurred during the therapy. With the aid of sulindac and tamoxifen after low-dose D-D therapy, the first two patients achieved a complete response, and the third patient achieved a partial response and awaits further tumor shrinkage. Our experience indicates that low-dose DT-D therapy is a safe and effective regimen for patients with intra-abdominal desmoid tumors.

  19. Desmoid tumors: local control and patterns of relapse following radiation therapy

    SciTech Connect

    Leibel, S.A.; Wara, W.M.; Hill, D.R.; Bovill, E.G. Jr.; De Lorimier, A.A.; Beckstead, J.H.; Phillips, T.L.

    1983-08-01

    Desmoid tumors are benign neoplasms, arising from musculoaponeurotic tissues, which tend to be locally infiltrative, resulting in a high rate of local recurrence following surgical resection. Nineteen patients with desmoid tumors underwent radiation therapy at the University of California, San Francisco, between 1970 and 1980. Fifteen patients were referred with local recurrence following one or more surgical resections. Three patients were referred for initial radiation therapy with unresectable tumors, and one patient received planned postoperative irradiation following subtotal tumor resection. At the time of treatment, 8 patients had nonresectable disease measuring greater than 10 cm. The majority of patients were treated to a tumor dose of 50 to 55 Gy at 1.6 to 1.8 Gy per fraction. With a median follow-up of 8 years, 13 patients remained free of recurrent disease following radiation therapy. Local control was not related to the amount of disease present at the time of treatment. Of the 6 patients who developed recurrent disease, only 1 patient had a true in-field recurrence. Four patients recurred at the margin of the radiation field 1 to 5 years following therapy. Moderate dose radiation therapy to desmoid tumors can result in lasting local control when surgical resection is not possible. Post operative radiation can improve the rate of local control for patients with a high risk of recurrence. As desmoid tumors tend to be locally infiltrative, fields must be very generous to prevent marginal recurrence. Systemic chemotherapy offers an alternative to ablative surgery in the event of local failure following radiation therapy.

  20. Clinical Activity of the γ-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors (Aggressive Fibromatosis).

    PubMed

    Kummar, Shivaani; O'Sullivan Coyne, Geraldine; Do, Khanh T; Turkbey, Baris; Meltzer, Paul S; Polley, Eric; Choyke, Peter L; Meehan, Robert; Vilimas, Rasa; Horneffer, Yvonne; Juwara, Lamin; Lih, Ann; Choudhary, Amul; Mitchell, Sandra A; Helman, Lee J; Doroshow, James H; Chen, Alice P

    2017-03-28

    Purpose Desmoid tumors (aggressive fibromatosis) arise from connective tissue cells or fibroblasts. In general, they are slow growing and do not metastasize; however, locally aggressive desmoid tumors can cause severe morbidity and loss of function. Disease recurrence after surgery and/or radiation and diagnosis of multifocal desmoid tumors highlight the need to develop effective systemic treatments for this disease. In this study, we evaluate objective response rate after therapy with the γ-secretase inhibitor PF-03084014 in patients with recurrent, refractory, progressive desmoid tumors. Patients and Methods Seventeen patients with desmoid tumors received PF-03084014 150 mg orally twice a day in 3-week cycles. Response to treatment was evaluated at cycle 1 and every six cycles, that is, 18 weeks, by RECIST (Response Evaluation Criteria in Solid Tumors) version 1.1. Patient-reported outcomes were measured at baseline and at every restaging visit by using the MD Anderson Symptoms Inventory. Archival tumor and blood samples were genotyped for somatic and germline mutations in APC and CTNNB1. Results Of 17 patients accrued to the study, 15 had mutations in APC or CTNNB1 genes. Sixteen patients (94%) were evaluable for response; five (29%) experienced a confirmed partial response and have been on study for more than 2 years. Another five patients with prolonged stable disease as their best response remain on study. Patient-reported outcomes confirmed clinician reporting that the investigational agent was well tolerated and, in subgroup analyses, participants who demonstrated partial response also experienced clinically meaningful and statistically significant improvements in symptom burden. Conclusion PF-03084014 was well tolerated and demonstrated promising clinical benefit in patients with refractory, progressive desmoid tumors who receive long-term treatment.

  1. [Proctocolectomy with ileoanal anastomoses and desmoid tumor treated with resection. One case of familial adenomatous polyposis].

    PubMed

    Villalón-López, José Sebastián; Souto-del Bosque, Rosalía; Méndez-Sashida, Pedro Gonzalo

    2014-01-01

    Introducción: la poliposis adenomatosa familiar (PAF) es una rara enfermedad causada por una mutación en el gen de la poliposis adenomatosa coli (APC). Caso clínico: mujer de 32 años, con dolor y aumento del perímetro abdominal además de evacuaciones melénicas y pérdida de peso. La paciente presentó un tumor de 12 cm de diámetro en la fosa iliaca derecha. Tras la administración de medio de contraste, en una tomografía se apreció el tumor abdominal con reforzamiento compatible con sarcoma frente a tumor desmoide. Se realizó colonoscopia, por medio de la que se encontraron pólipos en el recto y el colon. La biopsia reportó adenomas túbulo-vellosos. Una panendoscopía demostró pólipos en fondo y cuerpo gástrico; el duodeno se encontraba en estado normal. Se realizó resección del tumor en pared abdominal y reconstrucción con malla además de proctocolectomía restaurativa con un reservorio íleo-anal con una ileostomía temporal. Se reportó tumor desmoide en la pared abdominal y se identificaron 152 pólipos túbulo-vellosos que afectaban todas las porciones del colon y el recto. Conclusiones: la PAF es una enfermedad autosómica dominante causada por una mutación en el gen APC que da como resultado el desarrollo de múltiples pólipos tanto en el colon como en el recto. Descrito en 1991, el gen APC se localiza en el cromosoma 5q21. Sin cirugía profiláctica, todos los pacientes desarrollarán cáncer colorrectal en la tercera década de la vida. Los tumores desmoides y los pólipos duodenales son ahora la causa de muerte en los pacientes con PAF.

  2. [A recurrent desmoid tumor of the popliteal fossa with vascular compromise].

    PubMed

    Díaz Hernández, M; Febles, G; Domínguez del Toro, M; Reboso Morales, L E; Llopart López, J R; Gambra Michel, L E

    1993-01-01

    We report a case of a 18-year-old male patient with his fourth relapse of a desmoid tumour of the left popliteal hollow after a traumatism in this area. Arterial displacement and extrinsic compression were showed by arteriography. Tumoration was extirpated including popliteal artery, in this way a terminal by-pass from distal femoral to peroneo-tibial trunks with contralateral great saphena was made. Diagnosis of intestinal polyposis and of the little osseous malformations, was discarded these pathologies frequently are related with these tumours. The research for 8 years and 4 months doesn't show any relapse, nor local neither multicentral. Furthermore, some considerations about this theme are reported.

  3. Desmoid and fibroma tumors differently respond to TGFbeta(1) stimulus and ECM macromolecule accumulation.

    PubMed

    Locci, Paola; Balducci, Chiara; Lilli, Cinzia; Marinucci, Lorella; Becchetti, Ennio; Dolci, Claudia; Calastrini, Carla; Lumare, Eleonora; Stabellini, Giordano

    2007-01-01

    Desmoid and fibroma tumours are characterized by cell proliferation, glycosaminoglycan and collagen fibre accumulation, high levels of transforming growth factor beta(1) (TGFbeta(1)) and different patterns of tissue infiltration. TGFbeta(1) is related to extracellular matrix (ECM) composition which, in turn, regulates cell functions and cell migration. In this study we report changes in cell proliferation, glycosaminoglycan (GAG) and collagen synthesis, TGFbeta(1) mRNA expression and fibronectin levels in normal, desmoid and fibroma fibroblast cultures before and after TGFbeta(1) stimulation. Our data showed cell proliferation, GAG and collagen synthesis, transforming growth factor beta(1) mRNA expression and fibronectin levels were significantly higher in desmoid than in fibroma cultures. TGFbeta(1) treatment had no effect on cell proliferation, but increased TGFbeta(1) mRNA expression, GAG, fibronectin and collagen synthesis in desmoid and fibroma fibroblasts. Its effects were more marked in desmoid cells. Fibronectin favours cell migration, while changes in GAG composition alter cell behaviour and ECM organization. In conclusion our data suggest that the different patterns of infiltration in desmoid and fibroma tumours are due to changes in ECM components and cell-ECM interactions which can be ascribed to altered TGFbeta(1) mRNA expression and TGFbeta(1) activity.

  4. Desmoid tumors: clinical features and outcome of an unpredictable and challenging manifestation of familial adenomatous polyposis.

    PubMed

    Campos, Fábio Guilherme; Martinez, Carlos Augusto Real; Novaes, Marleny; Nahas, Sérgio Carlos; Cecconello, Ivan

    2015-06-01

    Background/Aims Desmoid tumors (DTs) are rare, locally invasive neoplasms that may affect 10-25% of familial adenomatous polyposis (FAP) patients. Our aim was to evaluate incidence and clinical presentation among our patients, the potential impact on FAP outcome and to discuss treatment. Materials and methods Charts from 133 FAP (1977-2013) were reviewed. Patients with DTs were separated to retrieve demographic, clinical and management data. Follow-up was focused on disease evolution causing complications or death. Results 19 (14.3%) DTs were diagnosed, either after previous trauma (16) or during FAP surgery (3). This group comprised 8 men (42.1%) and 11 women (57.9%) with an average age of 32.9 years. Intervals from surgical trauma to DTs ranged from 7 to 60 months. ECMs were detected in 12 (63.1%) patients. DTs were located in the abdominal wall (8), abdominal cavity (8), abdominal wall and cavity (2) and left arm (1). Five patients (26.3%) referred family history of DTs. Patients presented severe complications such as small bowel obstruction (4) and hydronephrosis (2), being directly responsible for death in three patients. Conclusions (1) DTs developed in 14.3% of FAP, mostly after surgical trauma; (2) 30% caused severe morbidity; (3) identification of clinical risk factors may help surgeons to develop screening and therapeutic decisions.

  5. The Role of Postoperative Irradiation in the Treatment of Locally Recurrent Incompletely Resected Extra-Abdominal Desmoid Tumors

    PubMed Central

    Fontanesi, James; Mott, Michael P.; Kraut, Michael J.; Lucas, David P.; Miller, Peter R.

    2004-01-01

    Background: To define the efficacy of postoperative irradiation in patients with recurrent extra-abdominal desmoid tumors in whom surgical intervention has resulted in microscopically or grossly positive surgical margins. Methods: A retrospective analysis was performed on all patients referred to the department of radiation oncology at the Detroit Medical Center with a diagnosis of recurrent extra-abdominal desmoid tumor. This analysis includes all patients seen from 1 January 1990 through 31 December 1999. A total of 11 patients were treated to 13 sites. Ten had microscopically positive margins and three had gross residual disease. Three patients were noted to have multifocal disease at the time of initial representation. Local control, survival, follow-up, and subsequent development of new tumors are measured from the last day of treatment with irradiation. Results: Thirteen sites were treated. Seven patients had received chemotherapy/hormonal therapy prior to surgery and/or irradiation. The most commonly used drug was tamoxifen (n=6). The type of radiation delivered included external beam irradiation alone (n=3), combined external beam irradiation and brachytherapy (n=4), brachytherapy alone (n=3) and 252-Cf neutron brachytherapy alone (n=3). Follow-up has ranged from 29 to 115 months (median=76 months). Three patients have failed locally at 17, 24 and 29 months. One of these was treated for gross residual disease. No patient has died of tumor-related causes. Salvage at the failed sites was possible in twom of three with re-irradiation using external neutrons and/or aggressive surgical intervention and systemic therapy. Complications were most often noted to include decrease range in motion, especially in joint areas, and skin reactions which were normal in presentation. In one site there was development soft tissue necrosis. Conclusion: Based on our experience we recommend postoperative irradiation for all recurrent extra-abdominal desmoid lesions with

  6. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  7. [A Case of Familial Adenomatous Polyposis with a Desmoid Tumor Probably Communicating to the Intestinal Lumen That Was Successfully Treated with Non-Surgical Therapy].

    PubMed

    Ito, Tetsuya; Chika, Noriyasu; Yamamoto, Azusa; Ogura, Toshiro; Amano, Kunihiko; Ishiguro, Toru; Fukuchi, Minoru; Kumagai, Youichi; Ishibashi, Keiichiro; Eguchi, Hidetaka; Okazaki, Yasushi; Mochiki, Erito; Ishida, Hideyuki

    2016-11-01

    A 44-year-old man with familial adenomatous polyposis underwent laparoscopic-assistedtotal proctocolectomy with ilealpouch anal anastomosis(IPAA). Computed tomography conducted 21 months after IPAA demonstrated bilateral hydronephrosis andan intra-abdominal mass with a maximal diameter of 22 cm, leading to a diagnosis of stage IV desmoid disease, according to the classification by Church and associates. Six courses of combination chemotherapy with doxorubicin plus dacarbazine were administered. Computed tomography after chemotherapy demonstrated marked shrinkage of the desmoidtumor with intraabdominal air andfluidcollection extending just below the skin of the ileostomy closure site. Stoollike fluidoverflowedspontaneously through the site of the ileostomy closure andthe abscess cavity was successfully drained. The patient was discharged 30 days after the start of drainage. The patient is doing well 10 months after the drainage without regrowth of the desmoid tumor, even though a cavity-like lesion encapsulatedby a thick wall remains.

  8. Cytoreductive strategy for multiple intra-abdominal and abdominal wall desmoid tumors in familial adenomatous polyposis: report of three cases.

    PubMed

    Tanaka, Koji; Toiyama, Yuji; Okugawa, Yoshinaga; Hiro, Junichiro; Kawamoto, Aya; Inoue, Yasuhiro; Uchida, Keiichi; Araki, Toshimitsu; Mohri, Yasuhiko; Kusunoki, Masato

    2012-10-01

    Desmoid tumors (DTs) are benign myofibroblastic neoplasms originating from the fascia or muscle aponeurosis, which occur in one-third of patients with familial adenomatous polyposis (FAP). Most FAP-associated DTs occur in the intra-abdominal or abdominal wall region, thus, their infiltrative or expansive growth causes life-threatening organ damage, such as intestinal obstruction, urethral obstruction, and mesenteric infiltration with the involvement of mesenteric vessels. Treatments including surgical resection, cytotoxic chemotherapy, nonsteroidal anti-inflammatory drugs and anti-estrogen therapy have all been tried with variable success. Here, we report on three patients with FAP who developed multiple intra-abdominal and abdominal wall DTs after total proctocolectomy and ileal pouch-anal anastomosis. Two cases underwent surgical resection of uncontrolled abdominal wall DTs after successful control of intra-abdominal DTs by systemic chemotherapy. The remaining case underwent repeated surgical resections of multiple intra-abdominal and abdominal wall DTs, and consequently had recurrent intra-abdominal DTs, with involvement of the small bowel and ureter. Surgical intervention as tumor volume reduction (cytoreduction) may be useful for cases with medical treatment-refractory or symptomatic FAP-associated abdominal DTs.

  9. Congenital tumors of the central nervous system.

    PubMed

    Severino, Mariasavina; Schwartz, Erin S; Thurnher, Majda M; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-06-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into "definitely congenital" (present or producing symptoms at birth), "probably congenital" (present or producing symptoms within the first week of life), and "possibly congenital" (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival.

  10. Desmoid-type fibromatosis-associated Gardner fibromas: prevalence and impact on local recurrence.

    PubMed

    Cates, Justin M M; Stricker, Thomas P; Sturgeon, Duveen; Coffin, Cheryl M

    2014-10-28

    Although Gardner fibroma is a precursor lesion of desmoid tumor, the prevalence and prognostic importance of Gardner fibroma associated with desmoid tumors has not been systematically studied in adults. From 129 patients with desmoid-type fibromatosis, 170 specimens were re-examined for the presence of an associated Gardner fibroma. Clinicopathologic features of Gardner fibroma-associated desmoid-type fibromatosis were compared to desmoid tumors without associated Gardner fibroma. Recurrence-free survival was compared using multivariate Cox proportional hazard regression to account for known confounding factors. Of 104 evaluable primary desmoid tumor resections, 25 (24%) had an associated Gardner fibroma. When previous incisional biopsies and resection specimens of locally recurrent desmoid tumors were also examined, the overall prevalence of associated Gardner fibroma was 37%. Desmoid tumors arising in high risk anatomic sites (extremities or deep soft tissues of the back and chest wall) were more often associated with Gardner fibroma than tumors at other sites. Median recurrence-free survival for patients with Gardner fibroma-associated desmoid-type fibromatosis was 3.2 years, whereas median survival for patients without associated Gardner fibroma was >25 years (hazard ratio 2.8; P = 0.001). Although the presence of Gardner fibroma had no impact on the recurrence rate of desmoid tumors arising at high risk anatomic sites, associated Gardner fibroma increased the risk of recurrence 4-fold for desmoid tumors at low risk anatomic sites. Associated Gardner fibroma is under-recognized in desmoid-type fibromatosis and increases the risk of local recurrence for a subgroup of patients.

  11. Immunohistochemical study of congenital gingival granular cell tumor (congenital epulis).

    PubMed

    Takahashi, H; Fujita, S; Satoh, H; Okabe, H

    1990-11-01

    The congenital gingival granular cell tumor (CGGT) or congenital epulis is a rare lesion of unknown origin found only in newborn infants. The tumor consists mainly of large eosinophilic granular cells arranged in solid nests that are separated by thin fibrovascular areas. In addition, there are some spindle-shaped cells and medium-sized polygonal cells (so-called interstitial cells) among the neoplastic granular cells. Three CGGTs were investigated with a panel of poly- and monoclonal antibodies, using immunoperoxidase methods on formalin fixed paraffin embedded sections. Neoplastic granular cells of these three cases show cytoplasmic staining for neuron-specific enolase (NSE) and vimentin. However, all other reactions were negative. Our results suggest that the lesion may be derived from uncommitted nerve-related mesenchymal cells. On the other hand, interstitial cells show strong S-100 protein-, cytokeratin-, vimentin-, and NSE-immunostainings, and these cells are consistent with neuroendocrine nature. The presence of a biphasic cell population with granular cells and interstitial cells must be considered the main immunohistochemical feature.

  12. Congenital Gingival Granular Cell Tumor: A Case Report

    PubMed Central

    Yıldırım, Ceren; Zerener, Tamer; Şençimen, Metin; Akgün, Özlem Martı; Altuğ, Hasan Ayberk; ÇİÇEK, Ali Fuat

    2017-01-01

    The congenital gingival granular cell tumor (CGCT), also as known as congenital epulis, is an unusual benign oral mucosal lesion in newborns. A two-day-old female patient was admitted to the Department of Pediatric Dentistry at Gulhane Medical Academy, Ankara, Turkey with her family, and an intraoral examination showed a CGCT located in the buccal region of the maxillary right first primary molar. In this report, we present a case of CGCT in a newborn. PMID:28293667

  13. Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

    PubMed Central

    Ikenoue, Tsuneo; Yamaguchi, Kiyoshi; Komura, Mitsuhiro; Imoto, Seiya; Yamaguchi, Rui; Shimizu, Eigo; Kasuya, Shinichi; Shibuya, Tetsuo; Hatakeyama, Seira; Miyano, Satoru; Furukawa, Yoichi

    2015-01-01

    We present here a case of attenuated familial adenomatous polyposis (AFAP) with a family history of desmoids and thyroid tumors. This patient had no colonic polyps but did have multiple desmoids. Genetic analysis identified a 4-bp deletion in codon 2644 (c.7932_7935delTTAT: p.Tyr2645LysfsX14) of the adenomatous polyposis coli (APC) gene. In cases with limited numbers of colonic polyps and desmoids, AFAP may be caused by a mutation in the 3′ region of APC. PMID:27081525

  14. c-Kit expression in desmoid fibromatosis. Comparative immunohistochemical evaluation of two commercial antibodies.

    PubMed

    Lucas, David R; al-Abbadi, Mousa; Tabaczka, Pamela; Hamre, Merlin R; Weaver, Donald W; Mott, Michael J

    2003-03-01

    To determine the frequency of c-Kit staining in desmoids and optimize an assay for clinical use, we stained 19 desmoids from various sites at various dilutions with 2 commonly used rabbit polyclonal, anti-c-Kit antibodies (A4502, DAKO, Carpinteria, CA; C-19, Santa Cruz Biotechnology, Santa Cruz, CA), with and without heat-induced epitope retrieval (HIER) in citrate buffer. Approdpriate external and internal control samples were evaluated for each test condition. At dilutions of 1:50 both antibodies stained substantial numbers of desmoids: with/without HIER, A4502, 89%/63%; C-19, 37%/74%. The staining was cytoplasmic without cell membrane accentuation. However, background stromal staining and nonspecific staining of endothelium and smooth and striated muscle were problematic with both antibodies at 1:50. At higher dilutions, C-19 stained no desmoid; however, diminished staining of external and internal control samples made it unreliable. A4502 similarly stained many fewer desmoids at higher dilutions. However, it retained strong staining of both external and internal control samples and showed much less nonspecific staining. Best results were achieved at 1:250 without HIER; only weak focal staining was present in 1 desmoid. With a simple immunohistochemical method optimized for clinical use, desmoid can be regarded as a c-Kit-negative tumor.

  15. 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.

  16. Familial Adenomatous Polyposis-Associated Desmoids Display Significantly More Genetic Changes than Sporadic Desmoids

    PubMed Central

    Robanus-Maandag, Els; Bosch, Cathy; Amini-Nik, Saeid; Knijnenburg, Jeroen; Szuhai, Karoly; Cervera, Pascale; Poon, Raymond; Eccles, Diana; Radice, Paolo; Giovannini, Marco; Alman, Benjamin A.; Tejpar, Sabine; Devilee, Peter; Fodde, Riccardo

    2011-01-01

    Desmoid tumours (also called deep or aggressive fibromatoses) are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP) or hereditary desmoid disease (HDD) carrying germline mutations in APC. Most sporadic desmoids carry somatic mutations in CTNNB1. Previous studies identified losses on 5q and 6q, and gains on 8q and 20q as recurrent genetic changes in desmoids. However, virtually all genetic changes were derived from sporadic tumours. To investigate the somatic alterations in FAP-associated desmoids and to compare them with changes occurring in sporadic tumours, we analysed 17 FAP-associated and 38 sporadic desmoids by array comparative genomic hybridisation and multiple ligation-dependent probe amplification. Overall, the desmoids displayed only a limited number of genetic changes, occurring in 44% of cases. Recurrent gains at 8q (7%) and 20q (5%) were almost exclusively found in sporadic tumours. Recurrent losses were observed for a 700 kb region at 5q22.2, comprising the APC gene (11%), a 2 Mb region at 6p21.2-p21.1 (15%), and a relatively large region at 6q15-q23.3 (20%). The FAP-associated desmoids displayed a significantly higher frequency of copy number abnormalities (59%) than the sporadic tumours (37%). As predicted by the APC germline mutations among these patients, a high percentage (29%) of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3%) seen among sporadic tumours. Our data suggest that loss of region 6q15-q16.2 is an important event in FAP-associated as well as sporadic desmoids, most likely of relevance for desmoid tumour progression. PMID:21931686

  17. Paratesticular congenital malignant rhabdoid tumor diagnosed by fine-needle aspiration cytology. a case report.

    PubMed

    Salamanca, Javier; Rodríguez-Peralto, José Luis; Azorín, Daniel; Ballestín, Claudio; De Agustín, Pedro

    2004-01-01

    We report the FNA features of a congenital malignant extrarenal rhabdoid tumor (MERT) located in the right paratesticular area of a newborn full-term boy (39 wk gestation), with disseminated metastases in the liver and right parietal region. The diagnosis was suggested two days after birth by fine-needle aspiration biopsy (FNAB) of the parietal mass, which demonstrated an atypical large cell proliferation with vesicular nuclei, prominent nucleoli, and abundant cytoplasm exhibiting paranuclear dense inclusions. The diagnosis was confirmed by histopathologic and immunohistochemical examination of the primary paratesticular tumor. To the best of our knowledge, this is the third MERT reported in the paratesticular region, one of the few congenital extrarenal non-central nervous system cases, and the third congenital case (renal or extrarenal) primarily diagnosed by FNAB. We emphasize the characteristic cytologic features of a congenital rhabdoid tumor, which must be known by pathologists because of the clinical and prognostic implications. Diagn. Cytopathol. 2004;30:46-50.

  18. Congenital primitive neuroectodermal tumor (neuroepithelioma) of the chest wall.

    PubMed

    Das, L; Chang, C H; Cushing, B; Jewell, P

    1982-01-01

    Primitive neuroectodermal tumor (neuroepithelioma) is a relatively common central nervous system tumor in children. Those arising from a peripheral nerve are extremely rare in childhood. There is only one reported case in 6-year-old where the tumor arose from the sciatic nerve. A case of neuroectodermal tumor of the chest wall, arising from the intercostal nerve, in a newborn is presented. The tumor metastasized to the brain. Prominent Homer-Wright rosettes, with central eosinophilic fibrillar substance similar to that seen in neuroepithelioma of the central nervous system, were present in the primary tumor and brain metastases. Ultrastructure, as revealed by transmission electron microscopy, is also described.

  19. Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.

    PubMed

    Amary, Maria Fernanda C; Pauwels, Patrick; Meulemans, Els; Roemen, Guido M; Islam, Lily; Idowu, Bernadine; Bousdras, Konstantinos; Diss, Timothy C; O'Donnell, Paul; Flanagan, Adrienne M

    2007-09-01

    Desmoid-type fibromatosis is a locally aggressive deep soft tissue tumor. Some cases are associated with adenosis polyposis coli germline mutations whereas others harbor somatic beta-catenin point mutations mainly in exon 3, codons 41 and 45. These mutations result in stabilization of beta-catenin, and activation of the Wnt signaling pathway. The aim of this study was to determine the specificity and sensitivity of these 3 most common beta-catenin mutations in the diagnosis of desmoid-type fibromatosis using paraffin-embedded material. The results were compared with nuclear expression of beta-catenin. Mutation-specific restriction enzyme digestion methodology was employed to detect the 3 mutations. One hundred and thirty-three cases were analyzed, including 76 desmoid-type, and 18 superficial fibromatosis, in addition to a further 39 fibromatosis mimics. A restriction site was present for analysis of the codon 41 mutation. Mismatch primers were designed for the codon 45 mutations. Mutations were detected in 66 cases (87%) of 76 desmoid-type fibromatosis (71 extra-abdominal). Of these, 34 (45%) were in codon 45 (TCT>TTT), 27 (35%) in codon 41 (ACC>GCC), and 5 (7%) in codon 45 (TCT>CCT). No mutations were detected in the other lesions studied. All desmoid-type fibromatosis cases and 72% of the mimics tested showed nuclear positivity for beta-catenin indicating immunohistochemistry is a sensitive but not a specific test for desmoid-type fibromatosis. In contrast, to date, beta-catenin mutations have not been detected in any lesions which mimic desmoid-type fibromatosis. Mutation-specific restriction enzyme digestion, a simple and efficient means of detecting the common beta-catenin mutations in desmoid-type fibromatosis, complements light microscopy in reaching a diagnosis.

  20. Desmoid Fibromatosis Presenting as Deep Venous Thrombosis: A Case Report and Discussion

    PubMed Central

    Marks, Lisa M.; Neuhaus, Susan J.

    2016-01-01

    Patient: Male, 40 Final Diagnosis: Desmoid fibromatosis Symptoms: Discomfort Medication: — Clinical Procedure: Surgery and radiotherapy Specialty: Surgery Objective: Rare disease Background: Venous thromboembolism (VTE), comprising deep vein thrombosis (DVT) and pulmonary embolism (PE), is a common, serious cardiovascular event. Predisposing factors include genetic disorders, immobility, and underlying malignancy. Soft tissue tumors are by contrast rare, but should be included in the differential etiology of DVT, especially when the patient is young and has few thrombotic risk factors. Case Report: We present a 40-year-old patient whose initial diagnosis was spontaneous DVT of the lower leg, treated conventionally. Subsequently, he developed progressive calf swelling, which was diagnosed as multifocal desmoid fibromatosis, a rare and complex soft tissue tumor. Conclusions: DVT is common but soft tissue tumors are rare. The disparity in incidence of these very distinct pathologies may contribute to late diagnosis of occult soft tissue pathology. We discuss the incidence, etiology, pathology, diagnosis, and best management of both desmoid fibromatosis and DVT, which may co-exist in a causative way. PMID:27994217

  1. Extra-Abdominal Desmoid Tumors (Aggressive Fibromatoses)

    MedlinePlus

    ... not intended to serve as medical advice. Anyone seeking specific orthopaedic advice or assistance should consult his ... topic.cfm?topic=A00188) Editorial Board & Staff Contributors Online Agreements Linking Policy Advertising & Sponsorship Privacy Policy AAOS ...

  2. Choristoma: A rare congenital tumor of the tongue

    PubMed Central

    Jorquera, Jessica Patricia Correa; Rubio-Palau, Josep; Cazalla, Asteria Albert; Rodríguez-Carunchio, Leonardo

    2016-01-01

    Most congenital masses of the mouth floor are cystic, irrespective of their origin. They may obstruct airway or digestive tract or may present other complications. Recognizing and treating these masses expeditiously is imperative. Choristoma is a mass of normal tissue in an abnormal location; they are classified according to the predominant epithelial lining. Few cases have been reported lined with gastric and respiratory epithelia within the same cyst. This case report presents a 5-month-old boy with an infected choristoma involving the floor of the mouth and its successful management.

  3. Synthesis and secretion of transforming growth factor-beta1 by human desmoid fibroblast cell line and its modulation by toremifene.

    PubMed

    Locci, P; Bellocchio, S; Lilli, C; Marinucci, L; Cagini, L; Baroni, T; Giustozzi, G; Balducci, C; Becchetti, E

    2001-11-01

    The present study provides evidence that the in vitro cultured fibroblast cell line from desmoid tumors differs from normal fibrobasts in its extracellular matrix (ECM) macromolecule composition and is modulated by treatment with toremifene, an antiestrogen that reduces tumor mass by an unknown mechanism. The results showed increased transforming growth factor-beta 1 (TGF-beta1) production, TGF-beta1 mRNA expression, and TGF-beta1 receptor number in desmoid fibroblasts compared with normal cells. As desmoid fibroblasts did not produce tumor necrosis factor-alpha (TNF-alpha) but were sensitive to it, which enhanced glycosaminoglycans (GAG) accumulation, we assessed the TGF-beta1 effects on TNF-alpha production by human monocytes. Our results showed TGF-beta1 significantly increased TNF-alpha secretion by monocytes. Toremifene mediated its effects in desmoid fibroblasts via an estrogen receptor-independent pathway. It inhibited GAG accumulation and the secretion of both latent and active forms of TGF-beta1 and had an inhibitory effect on TNF-alpha production by monocytes. Our results suggest that in reducing TGF-beta1 production by desmoid fibroblasts and TNF-alpha production by monocytes, toremifene may restore the balance between the two growth factors.

  4. Congenital peripheral primitive neuroectodermal tumor: a case treated successfully with multimodality treatment.

    PubMed

    Goyal, Shikha; Biswas, Ahitagni; Gupta, Ruchika; Mohanti, Bidhu Kalyan

    2014-12-01

    Neonatal tumors comprise less than two percent of childhood malignancies. Most are solid tumors, most common histologies being teratoma and neuroblastoma. We encountered a child who was detected to have a right arm mass on antenatal sonogram, which was diagnosed to be a primitive neuroectodermal tumor involving the triceps on fine needle aspiration cytology performed in the post-natal period. The child was successfully treated with multimodality treatment consisting of surgery, chemotherapy and radiotherapy. We also discuss briefly the problems associated with therapy in neonatal period. A review of all cases reported to have congenital Ewing's sarcoma family of tumors is presented. Novel therapies are needed to improve efficacy and decrease the devastating side effects of treatment in this age group.

  5. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  6. Sporadic Intra-Abdominal Desmoid: A Rare Presentation as a Hepatic Mass

    PubMed Central

    Gupta, Shahana; Ray, Udipta; Chatterjee, Souvik; Kumar, Sanjeev; Satapathy, Ayusman; Chatterjee, Shamita; Choudhury, Tamal Kanti

    2012-01-01

    We report an unusual presentation of a sporadic intra-abdominal desmoid tumour, possibly arising from the diaphragm, masquerading as a hepatic mass in a young female without any history of surgery or trauma. Histopathology ruled out a hepatic origin of the tumour as was inferred from pre- and intraoperative evaluation. Immunohistochemistry showed positivity of lesional fibroblastic cells for β-catenin and negativity for CD34, CD117, EMA, SMA, desmin, vimentin, cytokeratin, and ALK1 thereby confirming the diagnosis of a desmoid tumour. There exist only a few reports in the literature on desmoids related to the diaphragm, but only one on a diaphragmatic desmoid that is possibly primary. PMID:23091764

  7. Iodine-125 Interstitial Brachytherapy for Pediatric Desmoid-Type Fibromatosis of the Head and Neck: A Case Report.

    PubMed

    Wu, Wen-Jie; Guo, Hua-Qiu; Yu, Guang-Yan; Zhang, Jian-Guo

    2017-04-01

    Desmoid-type fibromatosis (DF) is a locally aggressive benign soft tissue tumor. It is rarely observed in the head and neck region and is particularly uncommon in the parotid gland. This report describes the case of a 32-month-old girl with DF of the head and neck. The tumor was resected with gross residual tumors. Recurrence occurred 3 months later and then the patient was treated with iodine-125 interstitial brachytherapy. The tumor was completely absent 6 months after brachytherapy. No recurrence was found 60 months after brachytherapy during follow-up. No severe toxicities or growth abnormalities were observed. Very-low-dose rate brachytherapy as the sole modality could be a reasonable alternative for the treatment of inoperable DF of the head and neck, which avoids the risk of cosmetic deformity caused by surgery, especially in pediatric patients. In addition, long-term follow-up is recommended.

  8. Toremifene decreases type I, type II and increases type III receptors in desmoid and fibroma and inhibits TGFbeta1 binding in desmoid fibroblasts.

    PubMed

    Stabellini, Giordano; Balducci, Chiara; Lilli, Cinzia; Marinucci, Lorella; Becchetti, Ennio; Carinci, Francesco; Calastrini, Carla; Dolci, Claudia; Lumare, Eleonora; Locci, Paola

    2008-09-01

    Tissue infiltration is different in desmoid and fibroma tumours. Both produce high levels of transforming growth factor beta1 (TGFbeta1), which is related to extracellular matrix (ECM) accumulation which in turn regulates cell function and cell migration. Interactions between collagen, proteoglycans and cell surface fibronectin are involved in the assembly and functions of the ECM. As toremifene inhibits collagen and TGFbeta1 synthesis, we tested it in normal, desmoid and fibroma fibroblasts. We will report the changes in glycosaminoglycan (GAG) and collagen synthesis, TGFbeta1 activity, fibronectin mRNA expression and TGFbeta1 receptors after toremifene treatment in normal, fibroma and desmoid fibroblasts. We evaluated GAG and collagen synthesis with 3H-glucosamine and 3H-proline incorporation, TGFbeta1 activity with the ELISA method, TGFbeta1 receptor affinity with 125I-TGFbeta1 binding and total RNA with Northern blot analysis. GAG and collagen synthesis, TGFbeta1 activity and fibronectin levels were higher in fibroma and desmoid than normal fibroblasts. The increase was greater in desmoid than fibroma tumour cells. Toremifene treatment reduced GAG and collagen synthesis, TGFbeta1 activity and fibronectin levels in all cell cultures. The percentage reduction in GAG was similar in all cultures; the reduction in collagen synthesis and TGFbeta1 activity was the highest in desmoid fibroblasts. TGFbeta1 receptors were higher in fibroma and desmoid cells than controls. Toremifene reduced TGFbeta1 receptors only in desmoid fibroblasts, with no effect on the changes in type I, II, and III receptors. Our data show that toremifene modifies the ECM components that regulate cytokine activity and cell migration. The reduction in receptor number only in desmoid cells suggests that toremifene may reduce TGFbeta1's affinity for its receptors. Synthesis of a substance regulating protein kinase activity, which is directly involved in the link between TGFbeta1 and its receptors

  9. [Congenital epulis].

    PubMed

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  10. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome)

    PubMed Central

    Vukina, Josip; Chism, David D.; Sharpless, Julie L.; Raynor, Mathew C.; Milowsky, Matthew I.; Funkhouser, William K.

    2015-01-01

    A 33-year-old male with a history of left testis Leydig cell tumor (LCT), 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm) right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs) and “testicular tumors of the adrenogenital syndrome” (TTAGS)). Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH) and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD) type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH. PMID:26351608

  11. Solitary S-100-positive congenital granular cell tumor of the tongue: a case report and literature review.

    PubMed

    He, Jian-feng; Lin, Yi; Liu, Jian-hua; Li, Zhi-yong

    2014-01-01

    Congenital granular cell tumors (CGCTs), which are rare benign lesions in newborns, locate predominantly on the anterior maxillary alveolar ridge of female neonates. However, this lesion rarely occurs on the tongue, and only 9 cases have been reported in the English literature. Of the 9 cases, which have been tested for S-100 protein, 4 were immunonegative to S-100 protein. In this present case, we reported a rare case of a 4-day-old Chinese girl with a CGCT on the anterior dorsum of the tongue. The lesion was excised under general anesthesia when the newborn was 3 months old. Histologically, pseudoepitheliomatous hyperplasia of the overlying mucosa was noted in this lesion. Immunohistochemical stains showed that the granular cells were diffusely strongly positive to S-100 protein, neuron-specific enolase, and vimentin. Depending on these findings, it was diagnosed as CGCT.

  12. Multifocal Congenital Hemangiopericytoma.

    PubMed

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  13. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  14. A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

    PubMed Central

    Sha, Yan-Kun; Sha, Yan-Wei; Ding, Lu; Liu, Wei-Wu; Song, Yue-Qiang; Lin, Jin; He, Xue-Mei; Qiu, Ping-Ping; Zhang, Ling; Li, Ping

    2016-01-01

    21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The patient showed physical signs of precocious puberty. The levels of blood adrenocorticotropic hormone (ACTH), urinary 17-ketone steroids (17-KS), dehydroepiandrosterone sulfate (DHEA-S), and serum progesterone (PRGE) were elevated, whereas those of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and CO were reduced. Computed tomography (CT) of the adrenal glands and magnetic resonance imaging (MRI) of the testes showed a soft tissue density (more pronounced on the right side) and an irregularly swollen mass (more pronounced on the left side), respectively. Pathological examination of a specimen of the mass indicated polygonal/circular eosinophilic cytoplasm, cord-like arrangement of interstitial cells, and lipid pigment in the cytoplasm. Immunohistochemistry results precluded a diagnosis of Leydig cell tumors. DNA sequencing revealed a hackneyed homozygous mutation, I2g, on intron 2 of the CYP21A2 gene. The patient’s symptoms improved after a three-month of dexamethasone therapy. Recent radiographic data showed reduced hyperplastic adrenal nodules and testicular tumors. A diagnosis of TART should be considered and prioritized in CAH patients with testicular tumors. Replacement therapy using a sufficient amount of dexamethasone in this case helps combat TART. PMID:26985347

  15. Intramedullary and retroperitoneal melanocytic tumor associated with congenital blue nevus and nevus flammeus: an uncommon combination of neurocutaneous melanosis and phacomatosis pigmentovascularis--case report.

    PubMed

    Kurokawa, Ryu; Kim, Phyo; Kawamoto, Toshiki; Matsuda, Hadzki; Hayashi, Shujiro; Yamazaki, Soji; Hatamochi, Atsushi; Mori, Shozo; Shimoda, Mitsugi; Kubota, Keiichi

    2013-01-01

    Neurocutaneous melanosis (NCM) is a rare condition characterized by central nervous system melanocytic tumors associated with congenital melanocytic nevi. Phacomatosis pigmentovascularis (PPV) is an association of vascular nevus with pigmentary nevus. Aberrant maturation of neural crest-derived cells is considered to be related to pathogenesis in both conditions. However, association of NCM and PPV has not been reported to the best of our knowledge. Melanocytoma, which usually involves the leptomeninges or spinal cord, is extremely rare in the retroperitoneum. We present here a case of a patient with NCM, PPV, and melanocytic tumors in the spinal cord and retroperitoneum, which were treated surgically. A 40-year-old woman had a 2-year history of dysesthesia and weakness in the left leg. History included congenital giant blue nevus-like lesion in the trunk, a port-wine stain in the sacral area, and Caesarean section performed 8 years before, when diffuse pigmentation in the peritoneum was noted. Magnetic resonance (MR) imaging of the spine revealed an intramedullary tumor at T10 level with paramagnetic signal characteristics. The spinal cord tumor was totally removed, and the histological diagnosis was melanocytoma. Three months later, a left retroperitoneal mass with histological features of melanocytic tumor was removed. Neither tumors recurred and the patient stays ambulatory 4 years after the surgery. Multiple subtypes of melanocytic tumors with distinctive features of NCM and PPV can develop simultaneously, mimicking malignant melanoma. Gross total resection of each tumor, when indicated, is beneficial.

  16. Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.

    PubMed

    Santiago, Teresa; Clay, Michael R; Allen, Sariah J; Orr, Brent A

    2017-03-03

    Primitive myxoid mesenchymal tumor of infancy is a rare sarcoma that preferentially affects infants. It can be locally aggressive and rarely metastasizes, but the long-term outcome of children with this tumor is mostly unknown. Histologically, it is characterized by primitive cells with abundant myxoid stroma. Internal tandem duplication of B-cell CLL/lymphoma 6 (BCL6)-interacting co-repressor (BCOR) exon 15 has recently been described in clear cell sarcoma of kidney, central nervous system high-grade neuroepithelial tumor with BCOR alteration, and primitive myxoid mesenchymal tumor of infancy. Herein, we report five cases of primitive myxoid mesenchymal tumor of infancy: three girls and two boys with mean age of 6.5 months. The tumors were located in the paraspinal region (n=3), back (n=1), or foot (n=1) and ranged in size from 2.5 to 10.2 cm. BCOR internal tandem duplication was confirmed by PCR and sequencing in all five cases. The minimally duplicated region consisted of nine residues, which is shorter than was previously reported in other BCOR-associated tumors. To assess the clinical value and specificity of the BCOR internal tandem duplication, a group of 11 ETV6-rearranged congenital infantile fibrosarcomas were evaluated and no BCOR internal tandem duplication was identified in any case. Though not detected in congenital infantile fibrosarcomas, BCOR and BCL6 immunoreactivity was present in >90% of the nuclei of tumor cells in each of the five primitive myxoid mesenchymal tumor of infancy. The presence of BCOR internal tandem duplication in all five primitive myxoid mesenchymal tumors of infancy provides evidence that it is a recurrent somatic abnormality and substantiates the concept that this tumor is a unique sarcoma of infancy. Our findings indicate that identification of BCOR internal tandem duplication and/or nuclear immunoreactivity for BCOR or BCL6 can aid in the diagnosis of primitive myxoid mesenchymal tumor of infancy and help to differentiate

  17. Human desmoid fibroblasts: matrix metalloproteinases, their inhibitors and modulation by Toremifene

    PubMed Central

    Balducci, Chiara; Lilli, Cinzia; Stabellini, Giordano; Marinucci, Lorella; Giustozzi, Giammario; Becchetti, Alessio; Cagini, Lucio; Locci, Paola

    2005-01-01

    Background Desmoid tumour is a benign, non metastasising neoplasm characterised by an elevated deposition of organic macromolecules in the extracellular matrix (ECM). The matrix metalloproteinases (MMPs) are a family of zinc-dependent proteinases involved in the degradation of ECM macromolecules. The MMPs and their natural inhibitors (TIMPs) have been implicated in tumour growth, invasion and metastasis. In this study we provide evidence that the in vitro cultured cell line from desmoid tumour accumulates more collagen fibres in the ECM than healthy fibroblasts. Methods We investigated collagen accumulation by 3H-thymidine incorporation, MMP expression by substrate gel zymography and TIMP expression by Western blot analysis. Results Desmoid fibroblasts showed a reduction in MMP activity and an increase of type I and III collagen and TIMPs compared to normal fibroblasts. Conclusion The increase in collagen in desmoid fibroblasts was due to inhibited collagen degradation (reduction of MMP activity) rather than to increased collagen synthesis. Adding toremifene, an anti-estrogen triphenylethylene derivate, to desmoid fibroblasts reduced collagen accumulation by decreasing mRNA expression and increasing collagen degradation. PMID:15740610

  18. Integrated imaging of hepatic tumors in childhood. Part II. Benign lesions (congenital, reparative, and inflammatory)

    SciTech Connect

    Miller, J.H.; Greenspan, B.S.

    1985-01-01

    The authors have encountered benign liver masses as frequently as malignant lesions in children with hepatomegaly. Lesions studied included abscesses, cavernous hemangioma/hemangioendothelioma, adenoma of glycogen storage disease, choledochal cysts, focal nodular hyperplasia, cystic hepatoblastoma, and hamartoma. An intergrated imaging protocol involving ultrasound, computed tomography, and scintigraphy proved to be more helpful than any one modality in establishing the benign or malignant nature of a hepatic neoplasm and the type of tumor, which is of particular importance when surgical exploration and/or biopsy is contraindicated.

  19. A suprapubic retroperitoneal operative approach to solitary paravaginal tumors.

    PubMed

    Cowles, T; Schwartz, P E

    1987-03-01

    Five cases of paravaginal tumors including a neurolemmoma, neurofibroma, lipoma, and desmoid tumors are presented. These tumors were approached through a modified Cherney incision. The rectus muscle was removed from the pubic symphysis and the pubococcygeus muscle was divided. This approach allowed good visualization of the paravaginal space, reasonable blood loss, and avoidance of entry into the peritoneal cavity. Although paravaginal tumors are rare, gynecologic surgeons should be aware of the suprapubic approach to the paravaginal space.

  20. Cardiac failure due to a giant desmoid tumour of the posterior mediastinum.

    PubMed

    Bouchikh, Mohammed; Arame, Alex; Riquet, Marc; Le Pimpec-Barthes, Françoise

    2013-12-01

    We report a rare case of a giant desmoid tumour responsible for cardiac and respiratory failure. Complete removal was decided upon, despite an initial failure in another centre because of symptom severity. In such cases, wide local resection remains the best therapeutic approach, but the risk of local recurrence is high. Literature review confirms the exceptional presentation and the benefit of aggressive surgery.

  1. The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising option.

    PubMed

    Cobianchi, Lorenzo; Ravetta, Valentina; Viera, Francesca Torello; Filisetti, Claudia; Siri, Barbara; Segalini, Edoardo; Maestri, Marcello; Dominioni, Tommaso; Alessiani, Mario; Rossi, Sandro; Dionigi, Paolo

    2014-11-27

    Desmoid tumours are benign, myofibroblastic stromal neoplasms common in Gardner's syndrome, which is a subtype of familial adenomatous polyposis characterized by colonic polyps, osteomas, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The primary treatment is surgery, followed by adjuvant radiotherapy, but the local recurrence rate is high, and wide resection can result in debilitating loss of function. We report the case of a 39-year-old man with Gardner's syndrome who had already undergone a total prophylactic colectomy. He developed desmoid tumours localized in the mesenteric root, abdominal wall and dorsal region, which were treated from 2003 through 2013 with several surgical procedures and percutaneous radiofrequency ablation. In 2008 and 2013, RFA was applied under ultrasonographic guidance to two desmoid tumours localized in the dorsal thoracic wall. The outcomes were low-grade pain and one case of superficial skin necrosis, but so far there has been no recurrence of desmoid tumours in these locations. Surgical resection remains the first-line therapy for patients with desmoid tumours, but wide resection may lead to a poor quality of life. Radiofrequency ablation is less invasive and expensive and is a possible therapeutic option for desmoid tumours in patients with Gardner's syndrome.

  2. Congenital Abnormalities

    MedlinePlus

    ... Listen Español Text Size Email Print Share Congenital Abnormalities Page Content Article Body About 3% to 4% ... of congenital abnormalities earlier. 5 Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic ...

  3. Desmoid-Type Fibromatosis of the Thorax: CT, MRI, and FDG PET Characteristics in a Large Series From a Tertiary Referral Center

    PubMed Central

    Xu, Hai; Koo, Hyun Jung; Lim, Soyeoun; Lee, Jae Wook; Lee, Han Na; Kim, Dong Kwan; Song, Joon Seon; Kim, Mi Young

    2015-01-01

    Abstract The purpose of this study was to describe the radiologic findings of computed tomography (CT), magnetic resonance (MR) imaging, and 18F-fluorodeoxy glucose positron emission tomography (FDG PET) in desmoid-type fibromatosis of the thorax. We retrospectively evaluated 47 consecutive patients with pathologically proven desmoid-type fibromatosis from January 2005 to March 2015. Patients underwent CT (n = 36) and/or MR (n = 32), and 13 patients also underwent FDG PET. Based on CT and MR, the sizes, locations, margins, contours, presence of surrounding fat, extra-compartment extension, bone involvement, and neurovascular involvement of the tumors were recorded. The attenuation, signal intensity, enhancement pattern, and presence of internal low signal band or signal void of the tumors were evaluated. Initial image findings were then compared between 2 groups of tumors: group 1 with recurrence or progression, and group 2 with no recurrence or stable without treatment. Median age at diagnosis of the tumors was 45 years, range 4 to 96, female-to-male ratio 1.8. Median tumor long diameter was 65 mm (range, 22–126 mm). The most common locations were chest wall (42.6%), followed by supraclavicular area, shoulder or axillary area, and mediastinum. The tumors had well-defined margins (83.0%), lobulated in contours (66.0%) surrounding fat (63.8%), extra-compartment extensions (42.6%), bone involvements (42.6%), and neurovascular involvements (27.7%). On CT, tumors had low attenuation (60.0%) with mild enhancement (median 24 HU, range 0–52). On MR, they showed iso-signal intensity (SI) (96.9%) on T1-weighted images (WI), and high SI (90.6%) on T2WI images, with strong (87.5%) and heterogeneous (96.9%) enhancement. Internal low signal bands (84.4%) and signal voids (68.8%) were noted. The median value of maxSUV was 3.1 (range, 2.0–7.3). In group 1 (n = 19, 40.4%), 13 patients suffered recurrence and 6 experienced progression. Group 2 (n = 28, 59

  4. Treatment and follow-up strategies in desmoid tumours: a practice guideline

    PubMed Central

    Ghert, M.; Yao, X.; Corbett, T.; Gupta, A.A.; Kandel, R.A.; Verma, S.; Werier, J.

    2014-01-01

    Objectives We set out to determine the optimal treatment options—surgery, radiation therapy (rt), systemic therapy, or any combinations thereof—for patients with desmoid tumours once the decision to undergo active treatment has been made (that is, monitoring and observation have been determined to be inadequate).provide clinical-expert consensus opinions on follow-up strategies in patients with desmoid tumours after primary interventional management. Methods This guideline was developed by Cancer Care Ontario’s Program in Evidence-Based Care and the Sarcoma Disease Site Group. The medline, embase, and Cochrane Library databases, main guideline Web sites, and abstracts of relevant annual meetings (1990 to September 2012) were searched. Internal and external reviews were conducted, with final approval by the Program in Evidence-Based Care and the Sarcoma Disease Site Group. Recommendations Treatments Surgery with or without rt can be a reasonable treatment option for patients with desmoid tumours whose surgical morbidity is deemed to be low. The decision about whether rt should be offered in conjunction with surgery should be made by clinicians and patients after weighing the potential benefit of improved local control against the potential harms and toxicity associated with rt. Depending on individual patient preferences, systemic therapy alone or rt alone might also be reasonable treatment options, regardless of whether the desmoid umours are deemed to be resectable. Follow-Up Strategies Undergo evaluation for rehabilitation (occupational therapy or physical therapy, or both). Continue with rehabilitation until maximal function is achieved. Undergo history and physical examinations with appropriate imaging every 3–6 months for 2–3 years, and then annually. PMID:25089635

  5. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

    PubMed Central

    Goriely, Anne; Hansen, Ruth M. S.; Taylor, Indira B.; Olesen, Inge A.; Jacobsen, Grete Krag; McGowan, Simon J.; Pfeifer, Susanne P.; McVean, Gilean A. T.; Meyts, Ewa Rajpert-De; Wilkie, Andrew O.M.

    2010-01-01

    Genes mutated in congenital malformation syndromes are frequently implicated in oncogenesis1,2, but the causative germline and somatic mutations occur in separate cells at different times of an organism’s life. Here we unify these processes for mutations arising in male germ cells that show a paternal age effect3. Screening of 30 spermatocytic seminomas4,5 for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G encoding K650E, which causes thanatophoric dysplasia in the germline)6 and 5 mutations in HRAS. Massively parallel sequencing of sperm DNA showed that the FGFR3 mutation increases with paternal age, with a similar mutation spectrum at the K650 codon to that in bladder cancer7,8. Most spermatocytic seminomas show increased immunoreactivity for FGFR3 and/or HRAS. We propose that paternal age effect mutations activate a common “selfish” pathway supporting proliferation in the testis, leading to diverse phenotypes in the next generation including fetal lethality, congenital syndromes and cancer. PMID:19855393

  6. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  7. A systematic review of active treatment options in patients with desmoid tumours

    PubMed Central

    Yao, X.; Corbett, T.; Gupta, A.A.; Kandel, R.A.; Verma, S.; Werier, J.; Ghert, M.

    2014-01-01

    Introduction We conducted a systematic review to determine the optimal treatment options in patients with desmoid tumours who have declined observational management. Methods A search was conducted of the medline and embase databases (1990 to September 2012), the Cochrane Library, and relevant guideline Web sites and conference materials. Results One systematic review and forty-six studies met the preplanned study selection criteria; data from twenty-eight articles were extracted and analyzed. For local control, three studies reported a statistically significant difference in favour of surgery plus radiotherapy (rt) compared with surgery alone, and one study did not; two studies reported the lack of a statistical difference between surgery plus rt and rt alone in maintaining local control. Multivariate risk factors for local recurrence included positive surgical margins and young patient age. Single-agent imatinib led to a progression-free survival rate of 55% at 2 years and 58% at 3 years. Methotrexate plus vinblastine led to a progression-free survival rate of 67% at 10 years. Significant toxicities were reported for all treatment modalities, including surgical morbidity, and rt- and chemotherapy-related toxicities. Conclusions In patients who have declined observational management, the local control rate was higher with surgery plus rt than with surgery alone. However, the additional rt-related complications should be considered in treatment decision-making. Surgery, rt, and systemic therapy are all reasonable treatment options for patients with desmoid tumours. PMID:25089111

  8. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  9. Osseous oral hyaline ring granuloma mimicking a mandible tumor in a child with congenital agenesis of the corpus callosum

    PubMed Central

    Neves-Silva, Rodrigo; Ferreira-Gomes, Camilla-Borges; Palmier, Natalia; Brum-Corrêa, Marcelo; Paes-Almeida, Oslei; Ajudarte-Lopes, Marcio; Agustin-Vargas, Pablo

    2017-01-01

    Background Hyaline ring granuloma (HRG) of the oral cavity is an uncommon disorder considered to be a foreign-body reaction resulting from implantation of food vegetable particles. Microscopically, it is characterized by the presence of structures of hyaline rings in an inflamed fibrous tissue background, which contains multinucleated giant cells. Material and Methods We present the case of a 4-year-old boy diagnosed with a mandible osseous HRG, which showed clinical and tomographic aspects suggestive of an aggressive bone tumor. Results The patient underwent surgical exploration and histopathologic analysis showed fragments composed predominantly of widespread dense connective tissue with an acute and chronic inflammatory infiltrate containing multinucleated giant cells and scattered areas of eosinophilic material associated with hyaline rings, strongly suggestive of vegetable particles. The eosinophilic material was positive for periodic acid-Schiff (PAS) and resistant to diastase digestion. These features led to diagnosis of osseous HRG. Scanning electron microscopy (SEM) analysis was performed for illustrative purposes and the multiple structures resembling vegetable particles were characterized in more detail. Conclusions Although rare, this case highlights the importance of the clinician’s awareness regarding the existence of an osseous counterpart of HRG. Key words:Agenesis of the corpus callosum, child, hyaline ring granuloma, intraosseous, mandible, pulse granuloma. PMID:28210458

  10. Bone tumor mimics: avoiding misdiagnosis.

    PubMed

    Gould, C Frank; Ly, Justin Q; Lattin, Grant E; Beall, Douglas P; Sutcliffe, Joseph B

    2007-01-01

    Whether discovered incidentally or as part of a focused diagnostic evaluation, the finding of a benign osseous lesion that has radiologic features resembling a bone tumor is not uncommon. Some of the more common benign and nonneoplastic entities that can sometimes be confused with tumors are the following: cortical desmoid, Brodie abscess, synovial herniation pit, pseudocyst, enostosis, intraosseous ganglion cyst, fibrous dysplasia, stress fracture, avulsion fracture (healing stage), bone infarct, myositis ossificans, brown tumor, and subchondral cyst. Accurate diagnosis and management of these lesions require a basic understanding of their epidemiology, clinical presentations, anatomic distributions, imaging features, differential considerations, and therapeutic options. This in-depth review of 13 potential bone tumor mimics will assist the radiologist in correctly identifying these benign lesions and in avoiding misdiagnosis and related morbidity. This review will also aid the radiologist in making appropriate recommendations to the referring physician for management or further imaging.

  11. Intra-Abdominal Desmoid Tumour (DT) with Pelvic Extension-A Case Report

    PubMed Central

    Kumar, Sathish Selva; Ramachandran, Padmini; G, Veena; Madhusudhan, Napa; Kumbhar, Uday

    2014-01-01

    Desmoid Tumour (DT) is a rare benign, myofibroblastic tumour originating from muscle fascia with tendency to recur but, it rarely metastasizes. We are reporting here a case of DT that presented as an intra-abdominal mass with pelvic extension in a patient who underwent hysterectomy for fibroid uterus seventeen years ago. A clinical diagnosis of ovarian malignancy was made. Ovarian tumour markers for surface epithelial and germ cell tumours were negative. Imaging studies suggested DT and the same was excised surgically. A histopathological diagnosis of DT was made and confirmed with immunohistochemistry (IHC) markers. DT should always be considered especially in female patients with previous history of surgery. A complete surgical excision is the treatment of choice with recurrent cases requiring radiotherapy. A differential diagnosis like sarcoma and further toxic chemotherapy can be avoided with careful histopathological evaluation and IHC confirmation of DTs. PMID:24596759

  12. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  13. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  14. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  15. Congenital rubella

    MedlinePlus

    ... is infected with the virus that causes German measles. Congenital means the condition is present at birth. ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... . 8th ed. Philadelphia, PA: Elsevier Churchill Livingstone; ...

  16. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  17. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  18. Congenital giant epulis obstructing oral cavity: newborn emergency.

    PubMed

    Gnassingbe, Komla; Mihluedo-Agbolan, Komlan A; Bissa, Harefetéguéna; Amegbor, Koffi; Noumedem, Nguefack Blanchard; Egbohou, Pilakimwe; Mama, Wakatou; Akakpo-Numado, Gamedzi K; Tekou, Hubert

    2014-01-01

    The congenital epulis is a benign congenital granular cell tumor arising most often of the alveolar ridge of the jawbone. When giant, it is source of digestive discomfort disabling feeding. We report the case of a newborn female, vaginal delivery, presented with a giant intraoral tumor. Tumor obstructing the mouth of the newborn and prevent the attachment and feeding. The treatment consisted of excision of the tumor under general anesthesia. The histology of the tumor was revealed that it was an epulis.

  19. The use of Permacol® for chest wall reconstruction in a case of desmoid tumour resection.

    PubMed

    Mirzabeigi, Michael N; Moore, John H; Tuma, Gary A

    2011-03-01

    Desmoid tumour resection is a known, albeit rare, cause for chest wall reconstruction. Traditionally, musculocutaneous flaps and synthetic mesh materials have been employed for coverage over these potentially large thoracic defects. More recently, biologic mesh materials have become increasingly more prevalent in a multitude of surgical reconstructions. To date, the current literature describes the usage of select biologic materials, such as human cadaveric acellular dermal matrix, in chest wall reconstruction. One variation of the biologic materials, Permacol(®), has not been well described in the literature for chest wall reconstruction. Permacol(®) is a porcine lyophilised acellular dermal collagen. We report the successful use of Permacol(®) in a complex chest wall reconstruction following the resection of a large desmoid tumour.

  20. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  1. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  2. Tumor

    MedlinePlus

    ... plants (aflatoxins) Excessive sunlight exposure Genetic problems Obesity Radiation exposure Viruses Types of tumors known to be caused by or linked with viruses are: Cervical cancer (human papillomavirus) Most anal cancers (human papillomavirus) Some throat ...

  3. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  4. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  5. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  6. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  7. [Congenital ranula].

    PubMed

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  8. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  9. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  10. Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.

    PubMed

    Micale, Mark A; Embrey, Bedford; Macknis, Jacqueline K; Harper, Cheryl E; Aughton, David J

    2016-12-01

    Fewer than 100 patients with partial chromosome 2p trisomy have been reported. Clinical features are variable and depend on the size of the duplicated segment, but generally include psychomotor delay, facial anomalies, congenital heart defect, and other abnormalities. We report a 560.49 kb duplication of chromosome 2p in a 13 month-old male with hydrocephaly, ventricular septal defect, partial agenesis of the corpus callosum, and bilateral Wilms tumor. After discovery of bilateral renal masses at four months of age, the child underwent neoadjuvant chemotherapy followed by right radical nephrectomy that revealed triphasic Wilms' tumor. A needle core biopsy on one of two lesions on the left kidney also revealed Wilms tumor. A partial left nephrectomy revealed focally positive margins that necessitated left flank radiotherapy. The tumor karyotype was 46,XY,t(7;8)(q36;p11)[8]/46,XY [12] while his constitutional karyotype was 46,XY, suggesting that the t(7;8)(q36;p11) was associated with the malignancy. Single nucleotide polymorphism (SNP) chromosome microarray analysis of peripheral blood identified a maternally-inherited 560.49 kb chromosome 2p24.3 duplication that involved four OMIM genes: NBAS, DDX1, MYCNOS, and MYCN. SNP array analysis of the tumor revealed the same 2p24.3 duplication. At present, the now 5-year-old boy continues to do well without clinical or radiographic evidence of recurrent disease. This case is instructive because the child's health insurer initially denied authorization for chromosome microarray analysis (CMA), and it took more than one year before such authorization was finally granted. That initial decision to deny coverage could have had untoward health implications for this child, as the identification of constitutional MYCN duplication necessitated surveillance imaging for a number of pediatric malignancies associated with MYCN overexpression/dysregulation.

  11. Prostate gland development and adrenal tumor in a female with congenital adrenal hyperplasia: A case report and review from radiology perspective

    PubMed Central

    Fang, Benjamin; Cho, Francis; Lam, Wendy

    2013-01-01

    We describe a case of a female with simple virilizing congenital adrenal hyperplasia (CAH) reared as a male diagnosed at the late age of 64. Computed Tomography (CT) demonstrated a large adrenal mass, bilateral diffuse adrenal enlargement, female pelvic organs as well as a clearly visualized prostate gland. This is to the best of our knowledge the first case of such a sizable prostate gland in a female CAH patient documented on CT. We review the literature regarding aspects where radiologists may encounter CAH and the finding of presence of a prostate gland in female CAH patients. PMID:24421935

  12. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

    Margarit, J; Rodó, J; Costa, J M; Vives, E; Escorihuela, F; Cardesa, A; Ribalta, T

    1997-08-01

    We report two cases of congenital hemangiopericytoma localized in the abdominal wall in the first patient and scalp in the second. The treatment of both cases consisted in the complete resection of the tumor mass. Four and two years later the patients remain asymptomatic. The special interest in this case report lies in the extremely low incidence of congenital hemangiopericytoma and that this is the first reference to affected siblings.

  13. Desmoid Tumours in Familial Adenomatous Polyposis: Review of 17 Patients from a Portuguese Tertiary Center

    PubMed Central

    Rocha, Anabela; Martins, Vilma; Santos, Marisa

    2016-01-01

    Introduction Desmoid Tumours (DT) are benign tumours with an estimated incidence of 2-4 per million per year. Between 7-16% of them are associated with Familial Adenomatous Polyposis (FAP) and are mostly parietal or intra-abdominal. They are a challenge in relation to their unpredictable natural course, associated complications and difficult treatment. Aim The aim of the present study was to review the occurrence, management and follow-up of DT on FAP patients treated consecutively at a tertiary care center. Materials and Methods A retrospective review of clinical data from patients treated consecutively between 1993 and 2014. Patients’ data was gathered from clinical records. Data collection included the following variables: demographic data, genotype, FAP phenotype, data on FAP related surgery, DT diagnosis, location, size and number, DT treatment, patients’ status and follow-up data. Results The study population consisted of 17 patients from 9 families; with a mean age of 41 years, mostly women (59%) and most with a mutation either on codon 232 or 554. Most tumours had an intra-abdominal component (59%) with a mean size of 5cm. Fifteen patients were first treated with pharmacotherapy (Non-steroidal Anti-inflammatory Drugs (NSAIDs) and Tamoxifen). Five patients (29%) underwent surgery, 4 of them for complications of intra-abdominal tumours and 1 patient for abdominal wall tumours. Two patients underwent chemotherapy in relation to aggressive intra-abdominal disease. The mean follow-up time since diagnosis of DT was 123 months. Overall, 2 patients had remission, 11 patients had regression or stabilized disease, and 2 patients had progression. One patient died due to surgical complications. Conclusion Diagnosis of DT is based on clinical symptoms, without the need for screening, although imaging plays an important role once diagnosis is suspected. The treatment approach is conservative on most patients, leaving surgery for DT related complications. The follow

  14. Successful Treatment of High Risk and Recurrent Pediatric Desmoids Using Radiation as a Component of Multimodality Therapy

    SciTech Connect

    Jabbari, Siavash; Andolino, David; Weinberg, Vivian; Missett, Brian T.; Law, Jason; Wara, William M.; O'Donnell, Richard J.; Matthay, Katherine K.; DuBois, Steven G.; Goldsby, Robert; Haas-Kogan, Daphne A.

    2009-09-01

    Purpose: To evaluate the role of radiation therapy (RT) as a component of multimodality therapy for pediatric desmoids. Methods and Materials: Twenty-one children diagnosed between 1987 and 2005 were identified. Median age at start of treatment was 13 years (range, 2-21). Primary therapy consisted of resection alone (10), resection + external beam radiation therapy (EBRT) (5), resection + chemotherapy (CT; 3), EBRT alone (1), and CT alone (2). Results: The median follow-up from start of treatment is 75.7 months (range, 16-162). Examining patients with gross total resections (GTRs) (-) margins and those who had GTRs (+) margins followed by EBRT, only 2 of 7 failed primary treatment. Conversely, 13 of 14 patients with other primary treatments failed locally. Of the 15 patients who recurred, only 1 patient had a GTR (-) margins. Seven of these patients had salvage therapy that did not include RT, and of these only 2 have no evidence of disease (NED) at last follow-up. In contrast, the remaining 8 patients received RT as a component of their final salvage therapy and 7 of these are NED at last follow-up. At last follow-up, no patient has died, although toxicities of therapy have occurred. Conclusions: Local control is difficult to achieve in pediatric patients with desmoids. In the setting in which negative surgical margins cannot be achieved, RT plays a key role in achieving NED status. Even after multiple recurrences, successful salvage is achievable, particularly when high-dose focal therapy is incorporated.

  15. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  16. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  17. Study of Kidney Tumors in Younger Patients

    ClinicalTrials.gov

    2016-11-18

    Clear Cell Sarcoma of the Kidney; Congenital Mesoblastic Nephroma; Diffuse Hyperplastic Perilobar Nephroblastomatosis; Rhabdoid Tumor of the Kidney; Stage I Renal Cell Cancer; Stage I Wilms Tumor; Stage II Renal Cell Cancer; Stage II Wilms Tumor; Stage III Renal Cell Cancer; Stage III Wilms Tumor; Stage IV Renal Cell Cancer; Stage IV Wilms Tumor; Stage V Wilms Tumor

  18. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  19. Congenital Heart Disease in Adults

    MedlinePlus

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  20. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  1. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  2. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  3. Mesenchymal Tumors Can Derive from Ng2/Cspg4-Expressing Pericytes with β-Catenin Modulating the Neoplastic Phenotype.

    PubMed

    Sato, Shingo; Tang, Yuning J; Wei, Qingxia; Hirata, Makoto; Weng, Angela; Han, Ilkyu; Okawa, Atsushi; Takeda, Shu; Whetstone, Heather; Nadesan, Puvindran; Kirsch, David G; Wunder, Jay S; Alman, Benjamin A

    2016-07-26

    The cell of origin for most mesenchymal tumors is unclear. One cell type that contributes to this lineages is the pericyte, a cell expressing Ng2/Cspg4. Using lineage tracing, we demonstrated that bone and soft tissue sarcomas driven by the deletion of the Trp53 tumor suppressor, or desmoid tumors driven by a mutation in Apc, can derive from cells expressing Ng2/Cspg4. Deletion of the Trp53 tumor suppressor gene in these cells resulted in the bone and soft tissue sarcomas that closely resemble human sarcomas, while stabilizing β-catenin in this same cell type caused desmoid tumors. Comparing expression between Ng2/Cspg4-expressing pericytes lacking Trp53 and sarcomas that arose from deletion of Trp53 showed inhibition of β-catenin signaling in the sarcomas. Activation of β-catenin inhibited the formation and growth of sarcomas. Thus, pericytes can be a cell of origin for mesenchymal tumors, and β-catenin dysregulation plays an important role in the neoplastic phenotype.

  4. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  5. Imagery of pineal tumors.

    PubMed

    Deiana, G; Mottolese, C; Hermier, M; Louis-Tisserand, G; Berthezene, Y

    2015-01-01

    Pineal tumors are rare and include a large variety of entities. Germ cell tumors are relatively frequent and often secreting lesions. Pineal parenchymal tumors include pineocytomas, pineal parenchymal tumor of intermediate differentiation, pineoblastomas and papillary tumors of the pineal region. Other lesions including astrocytomas and meningiomas as well as congenital malformations i.e. benign cysts, lipomas, epidermoid and dermoid cysts, which can also arise from the pineal region. Imagery is often non-specific but detailed analysis of the images compared with the hormone profile can narrow the spectrum of possible diagnosis.

  6. Ocular surface tumors

    PubMed Central

    Othman, Ihab Saad

    2009-01-01

    Tumors of the conjunctiva and cornea comprise a large and varied spectrum of conditions. These tumors are grouped into two major categories of congenital and acquired lesions. The acquired lesions are further subdivided based on origin of the mass into surface epithelial, mucoepidermoid, melanocytic, vascular, fibrous, neural, histiocytic, myxoid, myogenic, lipomatous, lymphoid, leukemic, metastatic and secondary tumors. Ocular surface tumors include a variety of neoplasms originating from squamous epithelium, melanocytic tumors and lymphocytic resident cells of the conjunctival stroma. In this review, we highlight clinical features of these lesions, important diagnostic and investigative tools and standard care of management. PMID:21234217

  7. Kidney Tumors | Office of Cancer Genomics

    Cancer.gov

    Pediatric kidney tumors fall into four primary categories: Wilms tumors (~85% of all cases), clear cell sarcomas of the kidney (~5%), congenital mesoblastic nephromas (~4%), and rhabdoid tumors of the kidney (~3%). The TARGET initiative is investigating three of these tumor types.

  8. Congenital peripheral developing odontoma accompanied by congenital teratomatous fibroma in a 9-month-old boy: a case report.

    PubMed

    Mikami, Toshinari; Yagi, Masaatsu; Mizuki, Harumi; Takeda, Yasunori

    2013-03-01

    Peripheral odontoma is rare, and only two cases of congenital peripheral odontoma have been reported. Congenital oral fibroma is also rare. We describe a unique case of congenital peripheral developing odontoma accompanied by congenital teratomatous fibroma in an infant. Both tumors were difficult to detect on radiography. Two small masses were seen in the median anterior portion of the palatal mucosa of a 9-month-old boy. The masses had been present since birth and were surgically removed at age 28 months, when one of the masses had grown to a diameter of 8 mm. Histopathologic examination showed a fibrous lesion and a tooth germ-like rounded lesion composed of dental papilla, enamel organ, dentin, and cementum. Although congenital odontoma is rare, it should be considered when selecting appropriate treatment, as early radiographic detection is difficult.

  9. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  10. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  11. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  12. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  13. Primary mesenchymal tumors of the pancreas in a single center over 15 years

    PubMed Central

    Zhang, Hongkai; Yu, Shuangni; Wang, Wenze; Cheng, Yin; Xiao, Yu; Lu, Zhaohui; Chen, Jie

    2016-01-01

    In total, 95% of primary tumors in the pancreas are epithelial tumors; primary mesenchymal tumors at this site are extremely rare. At present, only one comprehensive study about these rare tumors has been performed. Another retrospective analysis of these rare tumors is performed in the present study, which, to the best of our knowledge, is the first to be performed in China. In the present study, 10 patients that underwent resection for primary mesenchymal tumors of the pancreas were identified in a 15-year period at the Chinese Academy of Medical Sciences and Peking Union Medical College, which accounted for 0.51% of the total surgically resected primary tumors of the pancreas at this hospital. Among the 10 patients, 7 patients (70%) were diagnosed with benign/borderline tumors, and the remaining 3 patients (30%) were diagnosed with malignant tumors. It was a unique finding of the present study that the preoperative diagnosis was frequently a misdiagnosis, in terms of the specific pathological diagnosis. Therefore, although primary mesenchymal tumors of the pancreas are extremely rare, they should be considered in order to make the correct preoperative diagnosis. Contrarily to a previous study, in the present study, the most common benign tumor was not desmoid tumor, but solitary fibrous tumors; the most frequent primary sarcoma was not undifferentiated/unclassified sarcoma either. In conclusion, the present study aids the understanding of these rare tumors; however, primary mesenchymal tumors of the pancreas require additional exploration in the future. PMID:27895766

  14. A Case of Congenital Malignant Spinal Cord Glioma as a Cause of Congenital Ascites in a Neonate

    PubMed Central

    Omesi, Lenore; Chang, Sunny; Handel, Andrew; Hegedus, Monica; Maduekwe, Echezona

    2016-01-01

    Congenital ascites is rare, but when it occurs, urinary ascites secondary to posterior urethral valve obstruction is the most common, and tumors are the least. Among the tumors in the pediatric population, the central nervous system tumors are common, but spinal cord tumors are rare. We describe a very rare case of congenital malignant spinal cord glioma presenting as isolated congenital ascites secondary to neurogenic bladder. A female infant was diagnosed sonographically with isolated congenital ascites at 40 weeks' gestational age, with uneventful development prior to 40 weeks' gestational age. Magnetic resonance imaging of the spine done within the first week of life identified a lobulated spinal mass with heterogeneous enhancement within the conus medullaris. Spinal fluid analysis showed evidence of small round blue cells and the pathology from the excision biopsy of the mass confirmed a WHO grade III or IV malignant glioma. The postoperative course was uneventful with resolution of the ascites and spontaneous micturition. The patient was discharged home without an indwelling urinary catheter. We report the first documented case of a newborn infant with isolated congenital ascites from neurogenic bladder secondary to a spinal cord glioma. PMID:27597917

  15. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  16. Congenital heart disease

    MedlinePlus

    ... defect - heartbeat Patent ductus arteriosis (PDA) - series References Fraser CD, Carberry KE. Congenital heart disease. In: Townsend ... ASD) Coarctation of the aorta Ellis-van Creveld syndrome Fetal alcohol syndrome Hypoplastic left heart syndrome Marfan ...

  17. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  18. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  19. Congenital Heart Information Network

    MedlinePlus

    ... Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  20. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  1. EXTENSIVE SURVEY OF STAT6 EXPRESSION IN A LARGE SERIES OF MESENCHYMAL TUMORS

    PubMed Central

    Demicco, Elizabeth G; Harms, Paul W; Patel, Rajiv M; Smith, Steven C; Ingram, Davis; Torres, Keila; Carskadon, Shannon L; Camelo-Piragua, Sandra; McHugh, Jonathan B; Siddiqui, Javed; Palanisamy, Nallasivam; Lucas, David R; Lazar, Alexander J; Wang, Wei-lien

    2015-01-01

    Objectives Expression of strong nuclear STAT6 is thought to be a specific marker for solitary fibrous tumors (SFT). Little is known about subtle expression patterns in other mesenchymal lesions. Methods We performed immunohistochemical studies against the C-terminus of STAT6 in tissue microarrays and whole sections, comprising 2366 mesenchymal lesions. Results Strong nuclear STAT6 was expressed in 285/2021 tumors, including 206/240 SFT, 49/408 well/dedifferentiated liposarcomas, 8/65 unclassified sarcomas, and 14/184 desmoids, among others. Expression in SFT was predominately limited to the nucleus. Other positive tumors typically expressed both nuclear and cytoplasmic STAT6. Complete absence of STAT6 was most common in pleomorphic liposarcoma and alveolar soft part sarcoma (60% and 72% cases negative, respectively). Conclusions Strong nuclear STAT6 is largely specific for SFT. Physiologic low-level cytoplasmic/nuclear expression is common in mesenchymal neoplasia, and is of uncertain significance. PMID:25873501

  2. Spontaneous regression of congenital cutaneous hemangiomas in a calf.

    PubMed

    Priestnall, S L; De Bellis, F; Bond, R; Alony-Gilboa, Y; Summers, B A

    2010-03-01

    Congenital vascular tumors of the skin have been described in people and a few animals, but unlike infantile hemangiomas in children, spontaneous regression has not been described in animals. A 2-day-old male Belgian Blue cross calf was presented for multiple congenital cutaneous masses that were soft, alopecic, and hyperemic; the calf had no other apparent abnormalities. Two weeks later, one mass had regressed. Surgical excision of one of the remaining masses was performed; histopathologic and immunohistochemical findings were considered diagnostic for epithelioid hemangioma. Eight months following initial presentation, all the masses had regressed spontaneously. This constitutes the first account in the veterinary literature of spontaneous regression in a congenital vascular tumor.

  3. Congenital hemangioma in spondylocostal dysostosis: a novel association*

    PubMed Central

    Salinas-Torres, Victor Michael

    2016-01-01

    Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth. Although hemangiomas are the most common tumor of infancy, rapidly involuting congenital hemangioma has not been described in spondylocostal dysostosis. I report the novel association of congenital hemangioma and spondylocostal dysostosis in a Mexican newborn female patient with neural tube defects. Given the embryological relationship between skin and nervous system, I surmise that this association is not coincidental. I also propose that these morphologic alterations be incorporated to the spondylocostal dysostosis phenotype and specifically looked for in other affected children, in order to provide appropriate medical management and genetic counseling. PMID:28300884

  4. What Are Congenital Heart Defects?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  5. Types of Congenital Heart Defects

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  6. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  7. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  8. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  9. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  10. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  11. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  12. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  13. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  14. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  15. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  16. Recurrent angio-fibroma of breast masquerading as phyllodes tumor.

    PubMed

    Chaurasia, Jai K; Alam, Feroz; Shadan, Mariam; Naim, Mohammed

    2015-01-01

    A young Indian female presented with a recurring tumor in the right breast masquerading as phyllodes tumor. Patient had history of five times excision and recurrences of the tumor, diagnosed as fibrous phyllodes of the breast. Presently, a well-circumscribed tumor of about 10 cm size, comprising of benign fibrous-angiomatous tissue with evidence of foci of pyogenic vasculitis was observed. Immuno-histochemical markers for the myo-epithelial and epithelial elements excluded the possibility of fibrous phyllodes, inflammatory myofibroblastic tumor, desmoid fibromatosis, and metaplastic carcinoma. The present findings were diagnostic of an inflammatory angio-fibroma of the right breast, not reported in the earlier literature. The observations indicated that the female breast may be susceptible to spontaneous productive and common-antibiotic-resistant focal septic vascular inflammation giving rise to angio-fibromatous proliferation producing a well-defined tumor mass in the breast, distinguishable from the other breast lesions by the connective tissue stains and immuno-histochemical markers.

  17. Congenital muscular torticollis: evaluation and classification.

    PubMed

    Tatli, Burak; Aydinli, Nur; Caliskan, Mine; Ozmen, Meral; Bilir, Feride; Acar, Gonul

    2006-01-01

    In this investigation of congenital muscular torticollis, 311 infants treated consecutively for congenital torticollis over an 8-year period (1995-2003) at the Pediatric Neurology Clinic of Istanbul Medical Faculty, Istanbul University, Turkey were reviewed retrospectively. The clinical presentation, associated abnormalities, treatment, and outcomes of the overall group and of subgroups divided according to an ultrasonography-based classification were evaluated. All patients were evaluated using a standard approach: cervical ultrasonography was performed, and the patients were divided into two subgroups. Each group was scanned for other anomalies, and outcomes were compared. The mean age at diagnosis was 2.3 months; patients included in this study were 138 males and 173 females. Two clinical subgroups, comprised of sternomastoid tumors 85% and postural torticollis 15%, were identified. Passive range of motion was the initial treatment recommended for all of the patients. Follow-up data were available for all 311 patients; 95% experienced total resolution and 5% experienced subtotal resolution. We conclude that the majority of children with congenital muscular torticollis experience total resolution of symptoms. The success rate of conservative treatment is primarily dependent on the patients' age at the initiation of exercises and ultrasonographic findings.

  18. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  19. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    PubMed

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  20. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  1. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  2. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  3. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

  4. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  5. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  6. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  7. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  8. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

    Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

  9. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  10. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro.

  11. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  12. Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours

    PubMed Central

    Walton, Sarah-Jane; Lewis, Amy; Jeffery, Rosemary; Thompson, Hannah; Feakins, Roger; Giannoulatou, Eleni; Yau, Christopher; Lindsay, James O.; Clark, Susan K.; Silver, Andrew

    2016-01-01

    Familial adenomatous polyposis (FAP) is rare affecting 1 in 10,000 people and a subset (10%) are at risk of myofibroblastic desmoid tumours (DTs) after colectomy to prevent cancer. DTs are a major cause of morbidity and mortality. The absence of markers to monitor progression and a lack of treatment options are significant limitations to clinical management. We investigated microRNAs (miRNA) levels in DTs and serum using expression array analysis on two independent cohorts of FAP patients (total, n=24). Each comprised equal numbers of patients who had formed DTs (cases) and those who had not (controls). All controls had absence of DTs confirmed by clinical and radiological assessment over at least three years post- colectomy. Technical qPCR validation was performed using an expanded cohort (29 FAP patients; 16 cases and 13 controls). The most significant elevated serum miRNA marker of DTs was miR-34a-5p and in-situ hybridisation (ISH) showed most DTs analysed (5/6) expressed miRNA-34a-5p. Exome sequencing of tumour and matched germline DNA did not detect mutations within the miR-34a-5p transcript sites or 3′-UTR of target genes that would alter functional miRNA activity. In conclusion, miR-34a-5p is a potential circulatory marker and therapy target. A large prospective world-wide multi-centre study is now warranted. PMID:27489864

  13. Familial adenomatous patients with desmoid tumours show increased expression of miR-34a in serum and high levels in tumours.

    PubMed

    Walton, Sarah-Jane; Lewis, Amy; Jeffery, Rosemary; Thompson, Hannah; Feakins, Roger; Giannoulatou, Eleni; Yau, Christopher; Lindsay, James O; Clark, Susan K; Silver, Andrew

    2016-01-01

    Familial adenomatous polyposis (FAP) is rare affecting 1 in 10,000 people and a subset (10%) are at risk of myofibroblastic desmoid tumours (DTs) after colectomy to prevent cancer. DTs are a major cause of morbidity and mortality. The absence of markers to monitor progression and a lack of treatment options are significant limitations to clinical management. We investigated microRNAs (miRNA) levels in DTs and serum using expression array analysis on two independent cohorts of FAP patients (total, n=24). Each comprised equal numbers of patients who had formed DTs (cases) and those who had not (controls). All controls had absence of DTs confirmed by clinical and radiological assessment over at least three years post- colectomy. Technical qPCR validation was performed using an expanded cohort (29 FAP patients; 16 cases and 13 controls). The most significant elevated serum miRNA marker of DTs was miR-34a-5p and in-situ hybridisation (ISH) showed most DTs analysed (5/6) expressed miRNA-34a-5p. Exome sequencing of tumour and matched germline DNA did not detect mutations within the miR-34a-5p transcript sites or 3'-UTR of target genes that would alter functional miRNA activity. In conclusion, miR-34a-5p is a potential circulatory marker and therapy target. A large prospective world-wide multi-centre study is now warranted.

  14. Congenital stationary night blindness presenting as Leber's congenital amaurosis.

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

    Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.

  15. Congenital hepatic fibrosis, liver cell carcinoma and adult polycystic kidneys.

    PubMed

    Manes, J L; Kissane, J M; Valdes, A J

    1977-06-01

    In reviewing the literature, we found no liver cell carcinoma (LCC) or well-documented adult polycystic kidneys (APK) associated with congenital hepatic fibrosis (CHF). We report a 69-year-old man with CHF, LCC, APK, duplication cyst of distal portion of stomach, two calcified splenic artery aneurysms, myocardial fibrosis and muscular hypertrophy of esophagus. The LCC was grossly predunculated and microscopically showed prominent fibrosis and hyaline intracytoplasmic inclusions in the tumor cells.

  16. Congenital neuroblastoma in a neonate with isotretinoin embryopathy.

    PubMed

    Aguilar, Shiley; Louis, Chrystal; Hicks, John; Zage, Peter; Russell, Heidi

    2014-03-01

    We describe a neonate with isotretinoin embryopathy and an incidental finding of congenital neuroblastoma. Diffuse liver metastases led to the decision to provide oncologic therapy followed by tumor resection. Despite the possible need for chronic care related to the comorbidities of the isotretinoin embryopathy and oncologic management, the patient remains disease-free. Because of the uncertain etiology of neuroblastoma, it remains unclear whether exposure to isotretinoin during embryogenesis and fetal development had an oncogenic effect on this patient.

  17. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  18. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  19. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  20. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  1. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-02-06

    Back ground: Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH).

  2. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

  3. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

    The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the “Central Registry” method, and should command a due proportion of health resources directed towards congenital malformation research. PMID:5914837

  4. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

    Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

    2017-01-01

    Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications. PMID:28083498

  5. Bone tumor

    MedlinePlus

    Tumor - bone; Bone cancer; Primary bone tumor; Secondary bone tumor; Bone tumor - benign ... The cause of bone tumors is unknown. They often occur in areas of the bone that grow rapidly. Possible causes include: Genetic defects ...

  6. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

    The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

  7. Immunotherapy of Congenital SIV Infection.

    DTIC Science & Technology

    1996-10-01

    TITLE: Immunotherapy of Congenital SIV Infection PRINCIPAL INVESTIGATOR: Ruth M. Ruprecht, M.D., Ph.D. CONTRACTING ORGANIZATION: Dana-Farber Cancer...SUBTITLE Immunotherapy of Congenital SIV 5. FUNDING NUMBERS Infection DAMD17-94-J-4431 6. AUTHOR(S) Ruth M. Ruprecht. M.D-. Ph.D 7. PERFORMING...period of several weeks, this strategy was adopted to avoid potential bias because of season or other factors. Because the staff at the Yerkes Regional

  8. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  9. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

    Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. In some cases, hypoprothrombinemia associated with dysprothrombinemia was also described in compound heterozygous defects. No living patient with undetectable plasma prothrombin has been reported to date. Prothrombin is encoded by a gene of approximately 21 kb located on chromosome 11 and containing 14 exons. Forty different mutations have been identified and characterized in prothrombin deficiency. Many of them surround the catalytic site, whereas another "hot spot" is localized in the recognition domain called anion binding exosite I, also called fibrinogen recognition site. Recently, mutations were identified also in the Na (+)-binding loop and in the light A-chain of thrombin. Most hypoprothrombinemia-associated mutations are missense, but there are also nonsense mutations leading to stop codons and one single nucleotide deletion. Finally, the main aspects of clinical manifestations and therapy of congenital prothrombin deficiency are presented and discussed.

  10. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action.

  11. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

    Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. Recently, mutations of the gene coding for the sodium channel Nav1.7--a voltage-dependent sodium channel expressed preferentially on peripheral nociceptors and sympathetic ganglia--have been found to be the cause of CIP in patients showing a normal nerve biopsy. This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.

  12. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  13. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

    The case records of 21 dogs with congenital portosystemic encephalopathy are reviewed. The disorder was most common in Australian cattledogs (blue heelers; 8 cases), Old English sheepdogs (3 cases) and Maltese terriers (3 cases). Extra-hepatic shunts occurred in small breeds, with the exception of 1 cattledog, while intra-hepatic shunts occurred in the medium to large breeds. The most common clinical pathology abnormalities were abnormal ammonia tolerance, mild to moderate increases in plasma alanine aminotransferase or alkaline phosphatase concentrations, decreased total serum protein concentrations, increased fasting ammonia concentrations and ammonium biurate crystalluria. Radiological examination revealed that all the dogs had a small liver. The kidneys were enlarged in 5 of 10 dogs in which kidney size could be estimated. Surgical ligation of an extra-hepatic shunt was successful in 2 of 4 dogs in which it was attempted. Medical management resulted in alleviation of clinical signs in 5 of 8 dogs. The period of successful treatment ranged from a few months to over a year.

  14. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  15. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  16. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported.

  17. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  18. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  19. Congenital anomalies and childhood cancer in Great Britain.

    PubMed Central

    Narod, S A; Hawkins, M M; Robertson, C M; Stiller, C A

    1997-01-01

    The presence of cancer and a congenital anomaly in the same child may be explained in certain cases by an underlying genetic abnormality. The study of these associations may lead to the identification of genes that are important in both processes. We have examined the records of 20,304 children with cancer in Britain, who were entered into the National Registry of Childhood Tumors (NRCT) during 1971-86, for the presence of congenital anomalies. The frequency of anomalies was much higher among children with solid tumors (4.4%) than among those with leukemia or lymphoma (2.6%; P < .0001). The types of cancer with the highest rates of anomalies were Wilms tumor (8.1%), Ewing sarcoma (5.8%), hepatoblastoma (6.4%), and gonadal and germ-cell tumors (6.4%). Cases of spina bifida and abnormalities of the eye, ribs, and spine were more common in children with cancer than among population-based controls. Future studies may be directed toward identifying the developmental pathways and the relevant genes that are involved in the overlap between pediatric cancer and malformation. PMID:9042906

  20. Congenital anomalies and childhood cancer in Great Britain

    SciTech Connect

    Narod, S.A.; Hawkins, M.M.; Robertson, C.M.; Stiller, C.A.

    1997-03-01

    The presence of cancer and a congenital anomaly in the same child may be explained in certain cases by an underlying genetic abnormality. The study of these associations may lead to the identification of genes that are important in both processes. We have examined the records of 20,304 children with cancer in Britain, who were entered into the National Registry of Childhood Tumors (NRCT) during 1971-86, for the presence of congenital anomalies. The frequency of anomalies was much higher among children with solid tumors (4.4%) than among those with leukemia or lymphoma (2.6%; P < .0001). The types of cancer with the highest rates of anomalies were Wilms tumor (8.1 %), Ewing sarcoma (5.8%), hepatoblastoma (6.4%), and gonadal and germ-cell tumors (6.4%). Cases of spina bifida and abnormalities of the eye, ribs, and spine were more common in children with cancer than among population-based controls. Future studies may be directed toward identifying the developmental pathways and the relevant genes that are involved in the overlap between pediatric cancer and malformation. 46 refs., 12 tabs.

  1. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  2. How Are Congenital Heart Defects Treated?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  3. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  4. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  5. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  6. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  7. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  8. Genetics Home Reference: congenital leptin deficiency

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions congenital leptin deficiency congenital leptin ...

  9. Genetics Home Reference: congenital nephrotic syndrome

    MedlinePlus

    ... 4 links) Great Ormond Street Hospital for Children (UK) MedlinePlus Encyclopedia: Congenital Nephrotic Syndrome MedlinePlus Encyclopedia: End- ... Version National Health Service: Nephrotic Syndrome in Children (UK) Orphanet: Congenital nephrotic syndrome, Finnish type Patient Support ...

  10. Treatment Options for Congenital Pigmented Nevus

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  11. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

    Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this issue exist. Given enough time for recovery, can a person gain visual skills after several years of congenital blindness? In India, we recently had an unusual opportunity to work with an individual whose case history sheds light on this question. S.R.D. was born blind, and remained so until age 12. She then underwent surgery for the removal of dense congenital cataracts. We evaluated her performance on an extensive battery of visual tasks 20 years after surgery. We found that although S.R.D.'s acuity is compromised, she is proficient on mid- and high-level visual tasks. These results suggest that the human brain retains an impressive capacity for visual learning well into late childhood. They have implications for current conceptions of cortical plasticity and provide an argument for treating congenital blindness even in older children.

  12. Congenital nystagmus and negative electroretinography

    PubMed Central

    Roussi, Mirella; Dalens, Hélène; Marcellier, Jean Jacques; Bacin, Franck

    2011-01-01

    Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. PMID:21573087

  13. Adult Congenital Heart Disease in Pregnancy.

    PubMed

    Lindley, Kathryn J; Conner, Shayna N; Cahill, Alison G

    2015-06-01

    With the success of modern surgical techniques for congenital heart disease, the population of women of childbearing age with congenital heart disease is growing. Because of the significant hemodynamic load of pregnancy, labor, and delivery, women with congenital heart disease require preconceptual risk assessment and expert multidisciplinary care throughout pregnancy. The aim of this review is to discuss the management of cardiovascular, obstetric, and fetal care issues that are commonly encountered during pregnancy in women with congenital heart disease.

  14. Leber's congenital amaurosis: an update.

    PubMed

    Fazzi, Elisa; Signorini, Sabrina Giovanna; Scelsa, Barbara; Bova, Stefania Maria; Lanzi, Giovanni

    2003-01-01

    Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

  15. Lengthening of congenital forearm stumps.

    PubMed

    Jasiewicz, Barbara; Tesiorowski, Maciej; Kacki, Wojciech; Kasprzyk, Marcin; Zarzycki, Daniel

    2006-05-01

    The Ilizarov device and distraction osteogenesis method became very useful in correction and elongation of forearm defects. Two cases of forearm elongation with congenital transverse defect are described. The construction of the device is provided. During follow-up examination, 2 and 7 years after the treatment, good clinical results were achieved in both patients with the use of upper limb prosthesis employing the patient's own elbow joint. Presented application of the Ilizarov method can significantly improve possibilities for the use of prosthesis in patients with congenital upper limb defects and result in better cosmetic and functional outcome.

  16. Leber's congenital amaurosis as conceived by Leber.

    PubMed

    Pinckers, A J

    1979-01-01

    Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

  17. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2015-08-01

    myeloid leukemia (AML) is perhaps the major clinical concern in patients with severe congenital neutropenia (SCN) and Shwachman- Diamond syndrome (SDS... Diamond syndrome (SDS), cyclic neutropenia, or age-matched healthy controls. Aim 2. To determine whether increased G-CSF signaling accelerates the...agents, such as radiation. 2. KEYWORDS Congenital neutropenia Severe congenital neutropenia Shwachman Diamond syndrome Cyclic neutropenia

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

    PubMed

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

    2013-01-01

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

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

    PubMed Central

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

    2013-01-01

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

  20. Congenital Absence of the Pericardium

    PubMed Central

    Kim, Hyun-Jin; Cho, Goo-Yeong; Choi, Sang Il

    2014-01-01

    Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation. PMID:24753808

  1. Management of sporadic desmoid-type fibromatosis: a European consensus approach based on patients' and professionals' expertise - a sarcoma patients EuroNet and European Organisation for Research and Treatment of Cancer/Soft Tissue and Bone Sarcoma Group initiative.

    PubMed

    Kasper, B; Baumgarten, C; Bonvalot, S; Haas, R; Haller, F; Hohenberger, P; Moreau, G; van der Graaf, W T A; Gronchi, A

    2015-01-01

    Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterised by a variable and often unpredictable clinical course. It may affect nearly all parts of the body including extremities, trunk and abdomen. Considering the variable clinical presentations, anatomic locations and biological behaviours, an individualised treatment approach is required. No established or evidence-based approach for the treatment of this neoplasm is available as of today. Therefore, we propose a consensus treatment algorithm based on a round table meeting bringing together sarcoma experts from the European Organisation for Research and Treatment of Cancer (EORTC) Soft Tissue and Bone Sarcoma Group (STBSG) with patient advocates from Sarcoma Patients EuroNet (SPAEN). The aim of the meeting was to develop - for the first time ever - a consensus approach based on professionals' AND patients' expertise. As a fundamental prerequisite, all patients should be discussed in a multidisciplinary setting in centres or professional networks with a specific expertise in the disease.

  2. Congenital uveal melanoma?

    PubMed

    Singh, Arun D; Schoenfield, Lynn A; Bastian, Boris C; Aziz, Hassan A; Marino, Meghan J; Biscotti, Charles V

    2016-01-01

    A 3-month-old infant with a white mother and Asian father presented with discoloration and prominence of the left eye since birth. Examination revealed a normal right eye. The left eye had hyperchromic heterochromia and an enlarged cornea (diameter, 13.0 mm) with intraocular pressure of 26 mm Hg. There were multiple areas of subconjunctival nodular pigmentation that extended posteriorly into the superior fornix. Fundus examination showed a large ciliochoroidal pigmented mass extending from 10:30 to 3:00 o'clock position involving the superior half of the choroid and adjacent ciliary body. The eye was enucleated, confirming the diagnosis of diffuse uveal melanoma with extraocular extension. Systemic surveillance (hepatic panel and ultrasonography of the liver) performed every 6 months for 5 years was has been negative for metastases. The tumor was investigated intensively for the panel of genes (BAP1, BRAF, NRAS12, NRAS61, GNAQ, Kit 9,11,13,17,18) implicated in pathogenesis of blue nevus, cutaneous melanoma, and mucosal melanomas with negative results. Moreover, germline BAP1 mutation could not be identified. This case possibly represents as yet unidentified uveal melanocytic proliferation rather than a true variant of uveal melanoma.

  3. EXIT procedure in a neonate with a prenatally diagnosed granular cell tumor.

    PubMed

    Mayer, Steffi; Till, Holger; Stepan, Holger

    2010-09-01

    Congenital oral tumor masses might cause ventilation problems in the neonate. We report the first case of an EXIT procedure performed in a fetal granular cell tumor arising from the maxilla that was diagnosed prenatally followed by surgical correction on the 4th day of life. The EXIT procedure is an elegant approach to optimize perinatal airway management in such tumors.

  4. Congenital melanocytic nevus with features of hybrid schwannoma/perineurioma.

    PubMed

    Wang, Lei; Wang, Gang; Gao, Tianwen

    2013-05-01

    Neural differentiation by melanocytic nevi represents a well-recognized phenomenon, and melanocytic nevi with perineurial differentiation have been reported recently. We reported a case of a congenital melanocytic nevus with histopathologic features of hybrid schwannoma/perineurioma. The patient was a 36-year-old male who presented with a black tumor on his arm since birth. Histopathology showed a congenital melanocytic nevus in the superficial dermis, but more strikingly, in continuity with the melanocytic nevus, there was a well-circumscribed but unencapsulated nodule in the deep dermis. The nodule was composed of cellular and myxoid areas with storiform, laminated or whorled growth patterns. The cellular area was mainly composed of proliferation of plump spindle, oval or epithelioid cells. The myxoid area was mainly composed of proliferation of slender spindle cells with mucin deposition. Immunohistochemical stains showed that the cellular area was positive for S100 and CD34, weakly positive for EMA, negative for Glut-1 and collagen IV, the myxoid area was positive for S100, negative for CD34, strongly positive for EMA and focally positive for Glut-1 and collagen IV. Our results show that congenital melanocytic nevi may show neural differentiation with histopathologic features of hybrid schwannoma/perineurioma.

  5. Ear Tumors

    MedlinePlus

    ... Outer Ear Ear Blockages Ear Tumors External Otitis (Swimmer's Ear) Malignant External Otitis Perichondritis Tumors of the ... Outer Ear Ear Blockages Ear Tumors External Otitis (Swimmer's Ear) Malignant External Otitis Perichondritis NOTE: This is ...

  6. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  7. Congenital syphilis: The continuing scourge

    PubMed Central

    Agrawal, Prachi G.; Joshi, Rajesh; Kharkar, Vidya D.; Bhaskar, M. V.

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  8. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  9. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  10. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  11. Congenital myotonia in related kittens.

    PubMed

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  12. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  13. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  14. Congenital deficiency of factor VII.

    PubMed

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  15. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  16. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  17. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  18. Tumor Types: Understanding Brain Tumors

    MedlinePlus

    ... Resources Tools & Publications Tumor Types: Understanding Brain Tumors World Health Organization (WHO) Updates Official Classification of Tumors ... Central Nervous System On May 9, 2016, the World Health Organization (WHO) published an official reclassification of ...

  19. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

    PubMed Central

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-01-01

    Abstract. Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of 123I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  20. [Congenital retinal folds in different clinical cases].

    PubMed

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  1. Arrangements of Hepatobiliary Cystadenoma Complicated With Congenital Choledochal Cyst

    PubMed Central

    Li, En-Liang; Shi, Shi-Dai; Huang, Yong; Wu, Lin-Quan

    2015-01-01

    Abstract Hepatobiliary cystadenoma complication with congenital choledochal cyst is extremely rare and has never been reported in literatures so far. The aim of the study was to investigate the disease arrangements by analyzing the case and performing a systematic review of the literature. This case report documents the details and clear patterns of the patient. A 65-year-old woman with fever (39.2°C), nausea, vomiting, and chronic hepatitis B imaging demonstrated a left hepatic multilocular cystic mass and cystic dilated common bile duct. A regular left hemihepatectomy was performed with resection of the entire tumor and choledochal cyst. The surgical margins were negative and a final diagnosis of hepatobiliary cystadenoma complicated with congenital choledochal cyst was established. The patient had an uneventful postoperative recovery and liver function returned to normal levels. Main lessons learned from this case are: the awareness should be raised about the disease to avoid misdiagnosis; preoperative ultrasonography, computed tomography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography play an important role in detecting the lesion; the scope and timing of the surgery should be determined, which provide the chance of cure to complete resection of the tumor. PMID:25621685

  2. Congenital intranasal meningocele in a newborn – case raport

    PubMed Central

    Wodzińska, Ewa; Jończyk-Potoczna, Katarzyna; Warzywoda, Małgorzata; Nowakowska, Katarzyna; Pawlak, Bogdan

    2011-01-01

    Summary Background: Meningocele or meningocephalocele is a rare defect, which consists in the displacement of the structures of the brain or/and meninges through a congenital cavity in the cranium. Depending on the location, there are hernias of the skull vault and base or external and internal hernias. Some of them can cause breathing disorders in children. Case Report: We described a case of an eutrophic, full-term newborn boy with breathing disorders. A laryngological examination found a tumor of the left nasal meatus, from which a sample was collected for histopathological study. Due to a cyst revealed under the lesion and pulsation of the tumor, it was decided to include imaging examinations into the diagnostic process. Computed tomography (CT) showed a mass of meningocele type, which was confirmed in magnetic resonance imaging (MRI). Results: In case of breathing disorders and a suspected mass in the nasal meatus in a newborn, a congenital meningocele or menigocephalocele should be assumed. This constitutes a contraindication to sampling of the lesion, without prior imaging tests (CT and/or MRI). PMID:22802834

  3. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  4. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  5. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  6. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

  7. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  8. A Case Series: Congenital Hyperinsulinism

    PubMed Central

    Alaei, Mohammad Reza; Akbaroghli, Susan; Keramatipour, Mohammad; Alaei, Ali

    2016-01-01

    Introduction Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown. Case Presentation During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease. Conclusions Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes

  9. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

    We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome. PMID:28300745

  10. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari, Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  11. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  12. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  13. Purpura-associated congenital lymphedema.

    PubMed

    Berti, Samantha; Pieri, Alessandro; Lotti, Torello; Duranti, Alberto; Panelos, John; De Martino, Maurizio; Moretti, Silvia

    2009-01-01

    An 8-year-old girl referred to our Department for a two-month worsening of congenital primary lymphedema of the lower limb and for the appearance of several purpuric lesions on the right thigh and knee. We diagnosed a lichenoid pigmented purpura of Gougerot and Blum in a patient with Milroy disease, complicated by an insufficiency of anterior saphena. We treated the patient with topical steroids and compression stockings, until surgical intervention of phlebectomy. We report this case for the rarity of the disease, for the even more rare association with lichenoid pigmented purpura and for cutaneous immunopathological findings.

  14. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... on PubMed Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B ... Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation ...

  15. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  16. Macular colobomas in Leber's congenital amaurosis.

    PubMed

    Margolis, S; Scher, B M; Carr, R E

    1977-01-01

    Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

  17. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

  18. Congenital Pleomorphic Adenoma in a SubmandibularGland of a Newborn- A Case Report

    PubMed Central

    Azma, Roxana; Fallahi, Minoo; Khoddami, Maliheh; Shamsian, Bibi Shahin; Alavi, Samin

    2016-01-01

    Introduction: Pleomorphic adenoma is a rare benign salivary gland neoplasm in children, which can be treated by simple excision. This tumor is rarely included in the differential diagnosis of solid submandibular masses in children. In the neonates, congenital pleomorphic adenoma usually presents in the nasopharynx. Surgical excision is the treatment of choice and recurrence is not expected. We report what appears to be the first case of congenital pleomorphic adenoma in the submandibular region in a one-day-old newborn. Case Report: The case of a one-day-old term baby is presented with a 5x2 cm left submandibualr mass with extension to the oral cavity. The mass was hard and non-mobile. During Ultrasonography and Contrast-enhanced Computed Tomography (CT) scan, the mass was solid with a heterogeneous internal structure. The tumor was completely excised and proved to be a pleomorphic adenoma during histopathological examination. Conclusion: Congenital pleomorphic adenoma rarely occurs in the nasopharynx and is treated by surgical excision. Our case is unique because the congenital pleomorphic adenoma is located in the submandibular gland of a newborn. PMID:27280103

  19. Hereditary congenital unilateral deafness: a new disorder?

    PubMed

    Dikkers, Frederik G; Verheij, Joke B G M; van Mechelen, Monique

    2005-04-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

  20. [Clinical features of solid malignant tumors in childhood].

    PubMed

    Koshinaga, Tsugumichi; Ohashi, Kensuke; Sugitou, Kiminobu; Ikeda, Tarou

    2013-07-01

    The pathogenesis of pediatric malignant tumors is associated with congenital abnormalities. Oncogenes and antioncogenes are identified in some of these cases. Neuroblastoma arises from the adrenal medulla and sympathetic ganglia. Most neuroblastomas produce catecholamine. Urinary vanillylmandelic acid(VMA)and homovanillic acid(HVA), metabolites of catecholamine, are sensitive tumor markers. Risk stratification according to tumor stage and a combination of prognostic factors helps determine the appropriate therapeutic strategy in clinical settings. Nephroblastoma(Wilms tumor)is the most common pediatric renal tumor and is often accompanied by congenital anomalies. Surgical resection of the tumor and the involved kidney is the initial treatment recommendation in the US and Japan. Consecutive chemotherapy and radiotherapy are administered after surgical staging and a definite histopathological diagnosis. Prognosis is relatively good for most nephroblastoma cases with a favorable histology. In addition to nephroblastoma, clear cell sarcoma of the kidney, characterized by a tendency to metastasize to the bone, is a renal tumor with poor prognosis. Rhabdoid tumor of the kidney is another tumor type; however, its pathogenesis is still unknown and it is associated with extremely poor prognosis because of the lack of effective therapeutic measures. Hepatoblastoma is the most common malignant liver tumor. The serum alpha-fetoprotein level is the most effective tumor marker. Complete surgical resection of the involved liver lobe is the definitive approach for cure. Preoperative chemotherapy increases the possibility of complete surgical resection. High-risk patients have a poor prognosis.

  1. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  2. Mammary tumors

    SciTech Connect

    Weller, R.E.

    1988-10-01

    Mammary neoplasia is one of the more common malignancies affecting domestic species. Despite their importance, they are often over- diagnosed, undertreated and subject to several misconceptions propagated by veterinarians and pet owners alike. Mammary neoplasia is the most frequent tumor type encountered in the female accounting for almost half of all malignancies reported. The canine has the highest incidence of mammary tumors of all domestic species. In the dog, about 65 percent of mammary tumors are benign mixed tumors, and 25 percent are carcinomas. The rest are adenomas, myoepitheliomas, and malignant mixed tumors. The age distribution of mammary tumors closely follows the age distribution of most tumors in the dog. Mammary tumors are rare in dogs 2 years old, but incidence begins to increase sharply at approximately 6 years of age. Median age at diagnosis is about 10 years. No breed predilection has been consistently reported.

  3. Brain Tumors

    MedlinePlus

    A brain tumor is a growth of abnormal cells in the tissues of the brain. Brain tumors can be benign, with no cancer cells, ... cancer cells that grow quickly. Some are primary brain tumors, which start in the brain. Others are ...

  4. Urogenital tumors

    SciTech Connect

    Weller, R.E.

    1994-03-01

    An overview is provided for veterinary care of urogenital tumors in companion animals, especially the dog. Neoplasms discussed include tumors of the kidney, urinary bladder, prostate, testis, ovary, vagina, vulva and the canine transmissible venereal tumor. Topics addressed include description, diagnosis and treatment.

  5. Wilms Tumor

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Wilms Tumor KidsHealth > For Parents > Wilms Tumor Print A A A What's in this article? ... their child has cancer. Fortunately, most kids with Wilms tumor, a rare kidney cancer, survive and go on ...

  6. Congenital absence of the gallbladder: another cause of false-positive hepatobiliary image

    SciTech Connect

    Dickinson, C.Z.; Powers, T.A.; Sandler, M.P.; Partain, C.L.

    1984-01-01

    Hepatobiliary imaging with the various technetium-labeled IDA compounds is more than 90% sensitive and specific for the diagnosis of acute cholecystitis. Causes of false-positive studies include chronic cholecystitis, cystic-duct obstruction by tumor, prolonged fasting, the nonfasting state, pancreatitis, alcoholism, parenteral hyperalimentation, and severe intercurrent illness. A case of congenital absence of the gallbladder is sumbitted as another cause of a false-positive scan.

  7. Norrbottnian congenital insensitivity to pain.

    PubMed

    Minde, Jan K

    2006-04-01

    Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment

  8. Tracheobronchial tumors

    PubMed Central

    Milenkovic, Branislava

    2016-01-01

    Tumors of trachea and bronchi are uncommon and can occur in the form of benign or low- and high-grade malignant tumors. Although tracheobronchial tumors (TBTs) represent only 0.6% of all pulmonary tumors, they are clinically significant. Delays in diagnosis of these tumors commonly occur because the signs and symptoms caused by these tumors are nonspecific and chest radiographs are often considered unremarkable. Therefore, novel radiological techniques and better access to flexible bronchoscopy enable detection of larger number of TBT. The purpose of this article is to provide a review of tracheal and bronchial tumors and discuss significant aspects of the different TBT with focus on clinical manifestations and diagnostic procedures. PMID:28066620

  9. Large bimedial rectus recessions in congenital esotropia.

    PubMed Central

    Szmyd, S. M.; Nelson, L. B.; Calhoun, J. H.; Spratt, C.

    1985-01-01

    The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia. PMID:3994944

  10. Public health research in congenital heart disease.

    PubMed

    Lara, Diego A; Lopez, Keila N

    2014-01-01

    Public health research is an integral part of the study of congenital heart disease. While this type of research has become more popular, particularly over the past decade, it has a history that stretches back to almost the beginnings of pediatric cardiology as a field. This review aims to introduce the concepts and methodologies of public health and how they relate to congenital heart disease, describe some of the challenges of traditional research methods in congenital heart disease, describe the history of public health research, and demonstrate the relevance of public health research, particularly databases, to pediatric cardiology fellows.

  11. High hyperopia in Leber's congenital amaurosis.

    PubMed

    Wagner, R S; Caputo, A R; Nelson, L B; Zanoni, D

    1985-10-01

    Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this subtype of Leber's congenital amaurosis. All of our cases were found to have at least +6.00 diopters of hyperopia on cycloplegic refraction. No systemic abnormalities were found in any of these children. We suggest that high hyperopia be included in the diagnostic criteria of this specific form of Leber's congenital amaurosis.

  12. Hyperopia in complicated Leber's congenital amaurosis.

    PubMed

    Dagi, L R; Leys, M J; Hansen, R M; Fulton, A B

    1990-05-01

    We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. All 13 patients were hyperopic. The magnitude of hyperopia did not differ significantly between the complicated and uncomplicated groups. Therefore, one cannot, as previously suggested, use the presence of high hyperopia to differentiate an uncomplicated form of Leber's congenital amaurosis from one complicated by neurologic or other systemic abnormalities. The concurrence of hyperopia with Leber's congenital amaurosis should not steer the physician away from careful neurologic systemic or biochemical evaluation of the child.

  13. [Congenital hepatic fibrosis: apropos of 12 cases].

    PubMed

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  14. Unilateral straight hair and congenital horner syndrome.

    PubMed

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A

    2012-06-01

    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

  15. Postural deformities in congenital nephrotic syndrome.

    PubMed Central

    Morgan, G; Postlethwaite, R J; Lendon, M; Houston, I B; Savage, J M

    1981-01-01

    Six successive cases of congenital nephrotic syndrome are described. Each one showed flexion deformities of the knees and hips, widely open anterior and posterior fontanelles, and wide separation of the skull sutures. These abnormalities were present not only in cases in which the renal histology was of the microcystic Finnish type of congenital nephrotic syndrome, but also in those in which the histological picture was one of the variants associated with congenital nephrotic syndrome. It is suggested that such abnormalities are postural deformities, possibly produced by the large placenta. Images Fig. 1 Fig. 2 PMID:7332344

  16. Congenital onychoheterotopia involving multiple toe nails.

    PubMed

    Yadav, Savita; Khullar, Geeti; Dogra, Sunil

    2013-01-01

    Onychoheterotopia is an uncommon condition in which nail tissue is found beyond the common nail unit of the digits of the hands and feet, most often on the fifth digit of the hand. It represents an extra and independent nail that can be present either congenitally, or more commonly, acquired following trauma. The exact pathogenesis of the congenital type is undetermined. We report a 25-year-old male with multiple congenital ectopic nails of the toes since birth, which has not been reported before.

  17. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  18. Congenital dental disease of horses.

    PubMed

    DeBowes, R M; Gaughan, E M

    1998-08-01

    Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

  19. X-linked congenital retinoschisis.

    PubMed

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  20. [Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia].

    PubMed

    Zeidler, C; Welte, K

    2007-12-01

    Congenital bone marrow failure syndromes are rare diseases characterised by a reduction of mature blood cells (erythrocytes, platelets, neutrophils). Examples of such disorders include congenital aplastic anemia (Fanconi anemia), congenital hypoplastic anemia (Diamond-Blackfan anemia), congenital neutropenias (Kostmann syndrome, cyclic neutropenia, Shwachman-Diamond syndrome and others), and congenital thrombocytopenias (TAR syndrome, amegacaryocytic thrombocytopenia). In Germany the prevalence of congenital bone marrow failure syndromes can be estimated to be 10/1,000,000 children and adolescents. Although rare, these diseases contributed significantly to the current knowledge on normal haematopoiesis. The documentation of rare diseases by patient registries and the cooperation of clinical centres within networks are most important for the resolution of such disorders. In the following, congenital neutropenia will be presented as an example: Until the 1980s congenital neutropenia could only be classified clinically. Few cases had been reported in the literature. All subtypes were therefore collected under the general term "congenital neutropenia". The establishment of an international network of experts and the long-term documentation of the courses of disease in a common database allowed for statistically workable data in response to therapy, secondary diagnoses and the long-term prognosis. A close cooperation with scientists finally led to the characterisation of genetically different disorders with common pathomechanisms.

  1. Genetics Home Reference: congenital insensitivity to pain

    MedlinePlus

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  2. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... Fujii T, Aiba H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  3. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements ...

  4. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  5. Ancient history of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2011-01-01

    Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.

  6. Congenital Insensitivity to Pain (HSNA type IV).

    PubMed

    Millichap, J Gordon

    2015-04-01

    Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched controls.

  7. Living with a Congenital Heart Defect

    MedlinePlus

    ... well the heart’s chambers and valves are working. Health Insurance and Employment Adults who have congenital heart defects ... carefully consider how changing jobs will affect their health insurance coverage. Some health plans have waiting periods or ...

  8. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), ...

  9. [Congenital toxoplasmosis: severe ocular and neurological complications].

    PubMed

    Hoekstra, Franka; Buzing, Cecile; Sporken, Jan M J; Erasmus, Corry E; van der Flier, Michiel; Semmekrot, Ben A

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased after 13 months. A 2-month-old boy presented with hydrocephalus and chorioretinitis, consistent with congenital toxoplasmosis. Despite antimicrobial treatment, at 12 months of age he suffered from epilepsy, cerebral palsy and vision impairment. Most infants with congenital toxoplasmosis (2 per 1000 live births in the Netherlands) are asymptomatic at birth. The education of pregnant women is crucial for the prevention of congenital toxoplasmosis. Awareness of antenatal and postnatal presenting signs and symptoms is important for clinicians, because early diagnosis and treatment may minimize sequelae. Untreated, the majority of affected infants will develop chorioretinitis, deafness and/or neurological symptoms.

  10. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

  11. Five Facts about Congenital Heart Defects

    MedlinePlus

    ... Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Folic Acid : Helping to Ensure a Healthy Pregnancy. ( English or Spanish ) Ten Tips to Prevent Infections during ...

  12. Submacular hemorrhage secondary to congenital toxoplasmosis

    PubMed Central

    Costa, Ana Luiza Fontes de Azevedo; Martins, Thiago Gonçalves dos Santos; Moncada, Francisco Javier Solano; Motta, Mário Martins dos Santos

    2014-01-01

    ABSTRACT We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery. PMID:24728255

  13. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  14. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... health and development? More about Mutations and Health Inheritance Pattern The various syndromes that include congenital hepatic fibrosis can have different inheritance patterns. Most of these disorders are inherited in an ...

  15. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

    ... right ventricle, D-transposition of the great arteries , Ebstein anomaly, hypoplastic left heart syndrome , interrupted aortic arch, ... Testing Registry: Congenital heart disease Genetic Testing Registry: Ebstein's anomaly Genetic Testing Registry: Hypoplastic left heart syndrome ...

  16. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  17. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

    Antenatal diagnosis of lung lesion has become more accurate resulting in dilemma and controversies of its antenatal and postnatal management. Majority of antenatally diagnosed congenital lung lesions are asymptomatic in the neonatal age group. Large lung lesions cause respiratory compromise and inevitably require urgent investigations and surgery. The congenital lung lesion presenting with hydrops requires careful postnatal management of lung hypoplasia and persistent pulmonary hypertension. Preoperative stabilization with gentle ventilation with permissive hypercapnia and delayed surgery similar to congenital diaphragmatic hernia management has been shown to result in good outcome. The diagnostic investigations and surgical management of the asymptomatic lung lesions remain controversial. Postnatal management and outcome of congenital cystic lung lesions are discussed.

  18. Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma

    PubMed Central

    Tannenbaum-Dvir, Sarah; Glade Bender, Julia L.; Church, Alanna J.; Janeway, Katherine A.; Harris, Marian H.; Mansukhani, Mahesh M.; Nagy, Peter L.; Andrews, Stuart J.; Murty, Vundavalli V.; Kadenhe-Chiweshe, Angela; Connolly, Eileen P.; Kung, Andrew L.; Dela Cruz, Filemon S.

    2015-01-01

    Abstract We describe the clinical course of a recurrent case of congenital fibrosarcoma diagnosed in a 9-mo-old boy with a history of hemimelia. Following complete surgical resection of the primary tumor, the patient subsequently presented with bulky bilateral pulmonary metastases 6 mo following surgery. Molecular characterization of the tumor revealed the absence of the prototypical ETV6-NTRK3 translocation. However, tumor characterization incorporating cytogenetic, array comparative genomic hybridization, and RNA sequencing analyses, revealed a somatic t(2;15)(2p21;15q25) translocation resulting in the novel fusion of EML4 with NTRK3. Cloning and expression of EML4-NTRK3 in murine fibroblast NIH 3T3 cells revealed a potent tumorigenic phenotype as assessed in vitro and in vivo. These results demonstrate that multiple fusion partners targeting NTRK3 can contribute to the development of congenital fibrosarcoma. PMID:27148571

  19. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

    Arun, Sumitha; Kumar, Manish; Ross, Benjamin Jeyanth

    2016-09-08

    Bronchogenic cyst (BC) is a rare congenital malformation of the lung. Most patients remain asymptomatic until adulthood while some are symptomatic in the first few years of life. However, symptoms in newborn period are rare. We report a case of a 3-day-old preterm baby with respiratory distress diagnosed as congenital lobar emphysema on chest X-ray. A CT scan revealed a mediastinal cyst causing obstructive lobar emphysema. The cyst was excised and pathological examination was suggestive of BC.

  20. Leber's congenital amaurosis with associated nephronophthisis.

    PubMed

    Roizenblatt, J; Peduti Cunha, L A

    1980-01-01

    The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.

  1. Screening programme for congenital toxoplasmosis in France.

    PubMed

    Thulliez, P

    1992-01-01

    The high prevalence of Toxoplasma gondii infection in France led to the establishment of a national screening programme. Preventive measures were progressively introduced, and these became compulsory in 1978 with the result that the incidence of congenital toxoplasmosis is now markedly reduced. Further improvements may include more systematic sampling from women before pregnancy, better and adequate health education and centralized notification of both maternal and congenital cases of toxoplasmosis.

  2. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  3. Congenital bilateral sternocleidomastoid contracture: a case report.

    PubMed

    Babu, Manohar K V; Lee, Peter; Mahadev, Arjandas; Lee, Eng Hin

    2009-05-01

    Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the English literature revealed no cases of bilateral congenital sternocleidomastoid contracture being reported. We present a case report of a 19-year-old girl with congenital bilateral sternocleidomastoid contracture.

  4. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed Central

    Odièvre, M; Pigé, G; Alagille, D

    1977-01-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin. PMID:869567

  5. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed

    Odièvre, M; Pigé, G; Alagille, D

    1977-05-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

  6. Congenital Symmastia: A 3-Step Approach

    PubMed Central

    Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition.

  7. Possible association between acetazolamide administration during pregnancy and multiple congenital malformations

    PubMed Central

    Al-Saleem, Afnan I; Al-Jobair, Asma M

    2016-01-01

    Congenital malformations might occur because of environmental or genetic factors, and sometimes occur because of unknown causes. Acetazolamide is a carbonic anhydrase inhibitor that is used to treat idiopathic intracranial hypertension, glaucoma, and epilepsy. The use of acetazolamide has not been recommended for pregnant women because of reported teratogenic risks. Congenital malformations, such as ectrodactyly, syndactyly, cleft lip/palate, and retarded incisor teeth development, have been reported in experimental animals. However, tooth agenesis due to the use of acetazolamide has not been reported yet. Oligodontia is a severe type of tooth agenesis involving six or more congenitally missing teeth. The causes of oligodontia are attributed to environmental factors, such as irradiation, drugs, trauma, tumors, infection, genetic factors, or a combination. There is no credible evidence of undesirable effects of acetazolamide use in human pregnancy. However, we report a case of a 12-year-old Saudi boy who was exposed to maternal acetazolamide (1,000 mg/day) for treatment of idiopathic intracranial hypertension before pregnancy, during the first trimester, and throughout the pregnancy. This treatment might have resulted in some congenital malformations, such as ectrodactyly, syndactyly, and oligodontia. PMID:27143854

  8. BRAF exon 15 mutations in pediatric renal stromal tumors: prevalence in metanephric stromal tumors.

    PubMed

    Marsden, Lily; Jennings, Lawrence J; Gadd, Samantha; Yu, Min; Perlman, Elizabeth J; Cajaiba, Mariana M

    2017-02-01

    Metanephric stromal tumors (MSTs) are rare renal stromal tumors that predominantly affect children. They belong to the metanephric family of tumors, along with metanephric adenofibroma and metanephric adenoma. The previous documentation of BRAF exon 15 mutations in 88% of metanephric adenomas and in isolated cases of metanephric adenofibroma prompted us to investigate the prevalence of these mutations in MSTs and in other pediatric renal stromal tumors. In this study, 17 MSTs, 22 congenital mesoblastic nephromas, and 6 ossifying renal tumors of infancy were selected for BRAF exon 15 testing. Tumor genomic DNA was extracted from formalin-fixed paraffin-embedded tissue, followed by polymerase chain reaction amplification and Sanger dideoxy sequencing with primers flanking the BRAF exon 15 gene. BRAF exon 15 mutations were found in 11 (65%) of the 17 cases of MST, all corresponding to a thymidine-to-adenine substitution at codon 600 (BRAF V600E). All other renal stromal tumors tested were negative for BRAF exon 15 mutations. In conclusion, BRAF V600E mutations are encountered in most MSTs, supporting a link with other metanephric tumors and suggesting a clonal event possibly affecting primordial renal cells. In addition, BRAF V600E mutations have been associated with oncogene-induced senescence in other benign tumors, providing clues to the pathogenesis of metanephric neoplasms in keeping with their overall benign behavior. Our results also suggest a potential diagnostic use for BRAF exon 15 mutations in differentiating MSTs from other pediatric renal stromal tumors, particularly in limited samples.

  9. Hypothalamic tumor

    MedlinePlus

    ... occur at any age. They are often more aggressive in adults than in children. In adults, tumors ... The treatment depends on how aggressive the tumor is, and whether it is a glioma or another type of cancer. Treatment may involve combinations of surgery, radiation , ...

  10. Carcinoid Tumors

    MedlinePlus

    Carcinoid tumors are rare, slow-growing cancers. They usually start in the lining of the digestive tract or in the lungs. They grow ... trouble breathing. Surgery is the main treatment for carcinoid tumors. If they haven't spread to other parts of the body, surgery can cure the cancer.

  11. Pituitary Tumors

    MedlinePlus

    ... pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body. Pituitary tumors are common, but often they don't cause health ... tumor produces hormones and disrupts the balance of hormones in your ...

  12. Pindborg tumor

    PubMed Central

    Caliaperoumal, Santhosh Kumar; Gowri, S.; Dinakar, J.

    2016-01-01

    Calcifying epithelial odontogenic tumor (CEOT), also known as Pindborg tumor, is a rare odontogenic epithelial neoplasm. So far, nearly 200 cases have been reported in the literature. We are reporting a case of CEOT in a 42-year-old male patient with painless bony swelling in the mandible. The clinical, radiographic, and histopathologic features are discussed with relevant references. PMID:27041911

  13. Microtia and congenital aural atresia.

    PubMed

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  14. Congenital abnormalities of the goat.

    PubMed

    Basrur, P K

    1993-03-01

    Congenital abnormalities of genetic and environmental causes constitute a striking proportion of the afflictions seen in goats. These include a variety of malformations and metabolic diseases that could occur in all breeds but tend to exhibit predisposition in some breeds of goats. Genetic abnormalities for which the carrier state is detectable with the aid of enzymes and surface protein markers can be eliminated from goat populations, whereas common polygenic disorders including udder problems in does and gynecomastia in bucks are more difficult to eradicate because the mutant genes responsible for these traits generally do not declare themselves until inbreeding brings together a critical concentration of liability genes to create a crisis. A substantial reduction of common abnormalities in this species, such as intersexuality in dairy breeds, abortion in Angora breed, and arthritis in the Pygmy breed, will require a change in breeders' preference and selection practice. In making these changes, however, the beneficial traits will have to be balanced against the undesirable effects of the selected mutant genes (pleiotropy), which hold the key to success or failure of a breed under domestication.

  15. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  16. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  17. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

    Background Congenital malaria has been considered a rare event; however, recent reports have shown frequencies ranging from 3% to 54.2% among newborns of mothers who had suffered malaria during pregnancy. There are only a few references concerning the epidemiological impact of this entity in Latin-America and Colombia. Objective The aim of the study was to measure the prevalence of congenital malaria in an endemic Colombian region and to determine some of its characteristics. Methods A prospective, descriptive study was carried out in the mothers who suffered malaria during pregnancy and their newborns. Neonates were clinically evaluated at birth and screened for Plasmodium spp. infection by thick smear from the umbilical cord and peripheral blood, and followed-up weekly during the first 21 days of postnatal life through clinical examinations and thick smears. Results 116 newborns were included in the study and 80 umbilical cord samples were obtained. Five cases of congenital infection were identified (four caused by P. vivax and one by P. falciparum), two in umbilical cord blood and three in newborn peripheral blood. One case was diagnosed at birth and the others during follow-up. Prevalence of congenital infection was 4.3%. One of the infected newborns was severely ill, while the others were asymptomatic and apparently healthy. The mothers of the newborns with congenital malaria had been diagnosed with malaria in the last trimester of pregnancy or during delivery, and also presented placental infection. Conclusions Congenital malaria may be a frequent event in newborns of mothers who have suffered malaria during pregnancy in Colombia. An association was found between congenital malaria and the diagnosis of malaria in the mother during the last trimester of pregnancy or during delivery, and the presence of placental infection. PMID:21846373

  18. Melanotic neuroectodermal tumor of infancy: Report of a case associated with high urinary excretion of Vanilmandelic acid

    PubMed Central

    Tandon, P. N.; Sah, Kunal; Kale, Alka; Kadam, Ajit; Shah, Hetul; Chandra, Sunira

    2011-01-01

    Melanotic neuroectodermal tumor of infancy is a rare congenital neoplasm involving the head and neck region in young patients. A case of melanotic neuroectodermal tumor of infancy is presented. This tumor occurred in right maxillary alveolar ridge in a 4-month-old infant. The present case showed an increased urinary level of vanilmandelic acid, confirming that the tumor is originated from neural crest. Clinical assessment, histologic diagnosis, and laboratory findings supported the diagnosis. PMID:22346163

  19. Intestinal congenital/infantile fibrosarcoma: a new clinico-pathological entity?

    PubMed

    Berrebi, Dominique; Fournet, Jean-Christophe; Boman, Françoise; Fabre, Monique; Philippe-Chomette, Pascale; Branchereau, Sophie; Fréneaux, Paul; Bouron-Dal Soglio, Dorothée; Michon, Jean; Peuchmaur, Michel

    2015-04-01

    Congenital/infantile fibrosarcoma (IFS) is a relatively rare form of fibrosarcoma diagnosed at birth or during early years of life and that differs from its adult counterpart because of a more favorable behavior. IFS is also known as cellular congenital mesoblastic nephroma, when it affects the kidney and is often but not always characterized by the ETV6-NTRK3 fusion transcript. We report herein the first series of an exceptional tumor of the small intestine occurring in newborns. The four patients shared a stereotyped clinico-pathological presentation with early and acute onset, intestinal perforation, and an infiltration by a highly cellular spindle cell tumor within the dilated intestinal wall exhibiting pathologic features typical of IFS. Molecular studies for the ETV6-NTRK3 translocation were negative in the three cases tested. Patients were treated by surgical wide resection alone and are alive and well (follow-up: 36 months-25 years). Thus, this new clinico-pathological entity, even with lack of documented evidence of the ETV6-NTRK3 translocation, should be included in the differential diagnosis of congenital bowel perforation or obstruction and may represent an intestinal counterpart of IFS.

  20. 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.

  1. Congenital lacrimal fistula: A major review.

    PubMed

    Chaung, Jia Quan; Sundar, Gangadhara; Ali, Mohammad Javed

    2016-08-01

    The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

  2. Congenital basis of posterior fossa anomalies

    PubMed Central

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

  3. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  4. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  5. Congenital scoliosis: an up-to-date

    PubMed Central

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

  6. Molecular Pathophysiology of Congenital Long QT Syndrome.

    PubMed

    Bohnen, M S; Peng, G; Robey, S H; Terrenoire, C; Iyer, V; Sampson, K J; Kass, R S

    2017-01-01

    Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome. We examine mechanisms of dysfunction associated with three critical cardiac currents that comprise the majority of congenital Long QT Syndrome cases: 1) IKs, the slow delayed rectifier current; 2) IKr, the rapid delayed rectifier current; and 3) INa, the voltage-dependent sodium current. Less common subtypes of congenital Long QT Syndrome affect other cardiac ionic currents that contribute to the dynamic nature of cardiac electrophysiology. Through the study of mutations that cause congenital Long QT Syndrome, the scientific community has advanced understanding of ion channel structure-function relationships, physiology, and pharmacological response to clinically employed and experimental pharmacological agents. Our understanding of congenital Long QT Syndrome continues to evolve rapidly and with great benefits: genotype-driven clinical management of the disease has improved patient care as precision medicine becomes even more a reality.

  7. Genetics Home Reference: autosomal dominant congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Enable Javascript to view the expand/collapse boxes. ... Close All Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  8. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

    The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

  9. Precalcaneal congenital fibrolipomatous hamartomas: report of occurrence in half brothers.

    PubMed

    Fangman, William L; Prose, Neil S

    2004-01-01

    Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern.

  10. Frequently Asked Questions about Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  11. Psychological Challenges Associated with Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  12. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  13. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  14. Tumor Markers

    MedlinePlus

    ... types: Germ cell tumors, lymphoma, leukemia, melanoma, and neuroblastoma Tissue analyzed: Blood How used: To assess stage, ... NSE) Cancer types: Small cell lung cancer and neuroblastoma Tissue analyzed: Blood How used: To help in ...

  15. Wilms' Tumor

    MedlinePlus

    ... team and have training in child development, recreation, psychology or social work. If your child must remain ... conditions/wilms-tumor/basics/definition/CON-20043492 . Mayo Clinic Footer Legal Conditions and Terms Any use of ...

  16. Tumor Grade

    MedlinePlus

    ... Other Funding Find NCI funding for small business innovation, technology transfer, and contracts Training Cancer Training at ... much of the tumor tissue has normal breast (milk) duct structures Nuclear grade : an evaluation of the ...

  17. Spinal tumor

    MedlinePlus

    ... Livingstone; 2014:chap 49. Read More Brain tumor - children Hodgkin lymphoma Metastasis Spinal cord trauma Review Date 8/15/2016 Updated by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review ...

  18. Wilms tumor

    MedlinePlus

    ... a type of kidney cancer that occurs in children. Causes WT is the most common form of childhood kidney cancer. The exact cause of this tumor in most children is unknown. A missing iris of the eye ( ...

  19. Pituitary tumor

    MedlinePlus

    ... enough of its hormones. This condition is called hypopituitarism . The causes of pituitary tumors are unknown. Some ... Cyst Endocrine glands Gigantism Growth hormone test Hyperthyroidism Hypopituitarism Multiple endocrine neoplasia (MEN) I Prolactin blood test ...

  20. Renal and adrenal tumors: Pathology, radiology, ultrasonography, therapy, immunology

    SciTech Connect

    Lohr, E.; Leder, L.D.

    1987-01-01

    Aspects as diverse as radiology, pathology, urology, pediatrics and immunology have been brought together in one book. The most up-do-date methods of tumor diagnosis by CT, NMR, and ultrasound are covered, as are methods of catheter embolization and radiation techniques in case of primarily inoperable tumors. Contents: Pathology of Renal and Adrenal Neoplasms; Ultrasound Diagnosis of Renal and Pararenal Tumors; Computed-Body-Tomography of Renal Carcinoma and Perirenal Masses; Magnetic Resonance Imaging of Renal Mass Lesions; I-125 Embolotherapy of Renal Tumors; Adrenal Mass Lesions in Infants and Children; Computed Tomography of the Adrenal Glands; Scintigraphic Studies of Renal and Adrenal Function; Surgical Management of Renal Cell Carcinoma; Operative Therapy of Nephroblastoma; Nonoperative Treatment of Renal Cell Carcinoma; Prenatal Wilms' Tumor; Congenital Neuroblastoma; Nonsurgical Management of Wilms' Tumor; Immunologic Aspects of Malignant Renal Disease.

  1. 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

  2. Congenital narrowing of the cervical spinal canal.

    PubMed Central

    Kessler, J T

    1975-01-01

    The clinical and laboratory findings in six patients with congenital narrowing of the cervical spinal canal and neurological symptoms are described. A variable age of onset and an entirely male occurrence were found. Signs and symptoms of spinal cord dysfunction predominated in all but one patient. Symptoms were produced in five patients by increased physical activity alone. Congenital narrowing of the cervical spinal canal may result in cord compression without a history of injury and occasionally without evidence of significant bony degenerative changes. The clinical features may be distinguishable from those found in cervical spondylosis without congenital narrowing. Intermittent claudication of the cervical spinal cord appears to be an important feature of this syndrome. Surgery improved four out of five people. PMID:1219087

  3. New Genetic Insights into Congenital Heart Disease

    PubMed Central

    Ware, Stephanie M.; Jefferies, John Lynn

    2012-01-01

    There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations. PMID:22822471

  4. Deprivation amblyopia and congenital hereditary cataract.

    PubMed

    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  5. Treatment of Common Congenital Hand Conditions

    PubMed Central

    Oda, Takashi; Pushman, Allison G.; Chung, Kevin C.

    2015-01-01

    Objective After reading this article, the participant should be able to: 1. Recognize the clinical features associated with five common congenital hand conditions. 2. Describe the indications and appropriate timing for various surgical procedures used to treat congenital hand anomalies. 3. Identify the pearls and pitfalls of these surgical treatments in order to avoid complications. 4. Understand the expected post-operative outcomes associated with these surgical procedures. Summary This article will provide an introduction to congenital hand differences by focusing on practical surgical strategies for treating five commonly encountered conditions including syndactyly, constriction ring syndrome, duplicated thumb, hypoplastic thumb and trigger thumb. The accompanying videos will demonstrate common and reliable surgical techniques for syndactyly release, duplicated thumb reconstruction and pollicization for hypoplastic thumb. PMID:20811188

  6. 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.

  7. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    PubMed

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations.

  8. Congenital chylothorax in newborn with trisomy 21.

    PubMed

    Lomauri, Kh

    2014-11-01

    Neonatal chylothorax results from the accumulation of chyle in the pleural space and may be either congenital or an acquired condition. Congenital chylothorax is most likely due to abnormal development or obstruction of the lymphatic system. It is often associated with hydrops fetalis. It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities. Congenital pulmonary lymphangiectasia and generalized lymphangiomatosis have also been reported to be associated with congenital chylothorax. Several case reports indicate that congenital chylothorax can recur in subsequent offspring, suggesting a possible underlying genetic etiology. It is important to identify infants with chylothorax, as there are specific issues that need to be addressed in the management of these patients. We present a case of newborn with trysomy 21 (trisomy 21 was diagnosed antenatally by amniocentesis with support of Association "Perinatology"), who developed moderate Respiratory Distress Syndrome, chest X-ray and US reveal pleural effusion on right side rapid intervention was made before deterioration, requiring intensive life-saving measures. In the neonate, chylous effusion is not a common cause of pleural effusions. It is characterized as an exudate because of the high protein and lipid content once the infant is fed. The fluid will be clear/yellow to slightly cloudy in the unfed state and will quickly become milky following feeding, as chylomicrons appear in the fluid. Lymphocytes predominate in the differential cell count of chyle. The volume of fluid output can be high, and management can be challenging. We review the common manifestations of congenital chylotoraxes and emphasize the importance of early diagnosis and intervention in preventing devastating outcomes from this condition.

  9. Air pollution and congenital heart defects.

    PubMed

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations.

  10. Epidemiology of congenital heart disease in Brazil

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  11. Giant congenital diverticulum of the right atrium.

    PubMed

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

    2008-01-01

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

  12. New approaches to managing congenital diaphragmatic hernia.

    PubMed

    Ivascu, Felicia A; Hirschl, Ronald B

    2004-06-01

    A number of new techniques have been studied for managing newborns with congenital diaphragmatic hernia and respiratory insufficiency. Among these have been the techniques of delayed approach to the repair of the diaphragmatic hernia; permissive hypercapnia; nitric oxide and surfactant administration; intratracheal pulmonary ventilation; liquid ventilation; perfluorocarbon-induced lung growth; and lung transplantation. These interventions are at various stages of development and evaluation of effectiveness. All, however, are being explored in the hopes of improving outcome in patients with congenital diaphragmatic hernia who continue to have significant morbidity and mortality in the newborn period.

  13. Bone lesions in early congenital syphilis.

    PubMed

    Rosen, E U; Solomon, A

    1976-01-31

    A radiological study of bone changes in 112 children with congenital syphilis was undertaken. A similar number of normal children acted as a control group. Radiological examination of 5 syphilitic children showed that their bones were normal. Combined metaphyseal and periosteal lesions were the commonest bone disorders seen and are thus the most convincing radiological evidence of congenital syphilis. Transverse metaphyseal lucencies occur early in the disease, and with Wimburger's sign they are the prime evidence of pathology in syphilitic bone. Other radiographic changes are probably owing to minimal trauma in fragile disorganized bone. The occurrence of periosteal lesions alone has also been evaluated.

  14. [Radionuclide studies of congenital kidney abnormalities].

    PubMed

    Vlakhov, N

    1984-06-01

    Using the potentialities of isotope nephrograms as a screening test a total of 4746 patients suspected of renal abnormalities were examined. The author established pathological deviations in 561 cases (11.8%). During further verification using scintigraphy unsuspected congenital renal abnormalities (aplasia, hypoplasia, dystopia, double kidney, horseshoe kidney, solitary cyst and polycystic renal disease) were found in 46 patients (8.2%). The diagnosis was confirmed at subsequent venous x-ray urography. A conclusion has been made as to the role of comprehensive nephrographic-scintigraphic examination in the diagnosis of congenital renal abnormalities.

  15. Congenital agminated melanocytic nevus - case report*

    PubMed Central

    da Rocha, Camila Roos Mariano; Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Luzzatto, Laura; Bonamigo, Renan Rangel

    2013-01-01

    Agminated nevus is a cluster group of melanocytic nevi confined to a localized area of the body. There are many pigmented lesions described in the literature as agminated, such as blue nevi, multiple lentigines and Spitz nevi, but only a few cases of congenital agminated melanocytic nevi have been described. We report a case of a male child who presented with congenital agminated nevi, emphasizing the importance of physical examination, dermoscopy, histopathological evaluation, differential diagnosis and follow up to rule out the possibility of dysplastic or malignant changes. PMID:24346910

  16. Leber's congenital amaurosis associated with hyperthreoninemia.

    PubMed

    Hayasaka, S; Hara, S; Mizuno, K; Narisawa, K; Tada, K

    1986-04-15

    Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.

  17. Leber's congenital amaurosis associated with mitochondrial dysfunction.

    PubMed

    Castro-Gago, M; Pintos-Martínez, E; Beiras-Iglesias, A; Maroto, S; Campos, Y; Arenas, J; Eirís-Puñal, J

    1996-03-01

    We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.

  18. Congenital glaucoma in cutis marmorata teleangiectatica congenita.

    PubMed

    Mayatepek, E; Krastel, H; Völcker, H E; Pfau, B; Almasan, K

    1991-01-01

    A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

  19. NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM.

    PubMed

    Ali, Mazahir; Zia, Aisha; Siddiqui, Saad Ebrahim

    2015-01-01

    Congenital Hypothyroidism is one of the most common preventable causes of mental retardation which is highly prevalent in our society due to lack of a national neonatal screening program, lack of education of the parents, increased consanguinity, and lack of suspicion from doctor's leads to delayed diagnosis and an increased incidence of congenital hypothyroidism in our society. This Menace can be easily tackled with a mass neonatal screening program and effective legislation which would make sure that serious efforts are being made to eradicate this preventable disease from Pakistan.

  20. 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.

  1. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

    Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

    1999-01-15

    We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography.

  2. Congenital color blindness in young Turkish men.

    PubMed

    Citirik, Mehmet; Acaroglu, Golge; Batman, Cosar; Zilelioglu, Orhan

    2005-04-01

    We investigated a healthy population of men from different regions of Turkey for the presence of congenital red-green color blindness. Using Ishihara pseudoisochromatic plates, 941 healthy men from the Turkish army were tested for congenital red-green color blindness. The prevalence of red-green color blindness was 7.33 +/- 0.98% (5.10% protans and 2.23% deutans). These ratios were higher than other reported samples from Mediterranean Europe. Higher percentages of color blindness were found in regions with a lower education level and more consanguineous marriages.

  3. Congenital dislocation of the patella - clinical case.

    PubMed

    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2016-01-01

    Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  4. Congenital Minamata disease: warnings from Japan's experience.

    PubMed

    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  5. Giant congenital diaphragmatic hernia in an adult

    PubMed Central

    2014-01-01

    Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It appears frequently in infants but rarely in adults. We present the case of a 50-year-old female han patient with tremendous left-sided congenital posterolateral diaphragmatic hernia (Bochdalek hernia) who also has a pair of supernumerary breasts and pulmonary hypoplasia of the lower-left lobe. The patient had an experience of misdiagnosis and she was treated for bronchitis for one year until being admitted to our hospital. This case study emphasizes the rare presentation of Bochdalek hernia in adults and the necessity of high clinical attention to similar cases. PMID:24512974

  6. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

    Decker, Ashley; Scher, Richard K.; Avarbock, Andrew

    2016-01-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  7. Radiographic findings in congenital lead poisoning

    SciTech Connect

    Pearl, M.; Boxt, L.M.

    1980-07-01

    Because lead crosses the placenta throughout pregnancy, the fetus is at risk for lead poisoning. A full term, asymptomatic child was born with congenital lead poisoning secondary to maternal pica. Radiographic findings of a dense cranial vault, lead lines, and delayed skeletal and deciduous dental development were noted at birth. After chelation therapy, when the patient was seven months old, radiographs revealed normal skeletal maturation. Tooth eruption did not occur until 15 months of age. Newborn infants with these radiographic findings should be screened for subclinical, congenital lead poisoning.

  8. [Congenital lobar hyperinflation: conservative management as an alternative therapy].

    PubMed

    Hermoso Torregrosa, C; Moreno Medinilla, E; Pérez Ruiz, E; Caro Aguilera, P; Pérez Frías, F J

    2014-07-01

    Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.

  9. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle.

    PubMed

    Raman, Subha; Takhtani, Deepak; Wallace, E Christine

    2009-01-01

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI.

  10. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

  11. Outcome of congenital adrenal hyperplasia.

    PubMed

    Kuhnle, U; Bullinger, M

    1997-09-01

    In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to identify. Girls with CAH have frequently been studied to evaluate the impact of prenatal androgen exposure on psychological, psychosocial, and psychosexual development, and impairments in various areas have been identified. However, there is no comprehensive study available regarding the outcome of this chronic disorder in adult life. We studied the quality of life in women with CAH, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication. The patients filled out questionnaires covering their physical state, psychological well-being, social relationships, and functional capacity, as well as questionnaires on psychosexual identification and psychosocial integration. The results were evaluated using a computerized statistical program for social studies. Out of a total of 94 patients above 18 years of age, 45 agreed to participate and were compared to 46 healthy, age-matched controls. Age at diagnosis was 2. 31 +/- 1.55 years and 38% suffered from the simple-virilizing, 45% from the salt-wasting, and 17.0% from the late-onset form of CAH. About one-third of patients had Prader stage 3 or 4 genital virilization. While the overall quality of life did not differ significantly, CAH patients were more often single (47.8% vs. 66.7%) and fewer of them had children (22.2% vs. 38.6%) compared to controls. Significant impairments were found in regard to body image and attitudes toward sexuality, but there was no increased homosexual preference. The women were successful in adjusting to illness and receiving social support. It is speculated that

  12. Spinal Cord Tumor

    MedlinePlus

    Spinal cord tumor Overview By Mayo Clinic Staff A spinal tumor is a growth that develops within your ... as vertebral tumors. Tumors that begin within the spinal cord itself are called spinal cord tumors. There are ...

  13. What Is Wilms Tumor?

    MedlinePlus

    ... Treatment? Wilms Tumor About Wilms Tumor What Is Wilms Tumor? Cancer starts when cells in the body begin ... live normal, healthy lives with just one kidney. Wilms tumors Wilms tumors are the most common cancers in ...

  14. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in APC-patients with 5 base pair deletion at codon 1309: Evidence for intrafamilial but not interfamilial genotype/phenotype correlation

    SciTech Connect

    Munier, E.L.; Thonney, F.; Pescia, G.

    1994-09-01

    Mutations at the adenomatous polyposis coli (APC) gene locus cause pleiotropic expression with colonic and extracolonic manifestations. The spectrum of colonic involvement ranges from an attenuated form of APC with few polyps, to a profuse phenotype with thousands of polyps. In 70% of the cases, APC mutations also produce multiple patches of CHRPE. The molecular basis for variable colonic and ocular expression of mutant APC alleles has been recently reported. Deletion of 5 base pair at codon 1309 ({sup 3921}{triangle} AAAAG), the most common APC mutation, was associated with earlier development of polyps and earlier malignant transformation together with strong intra- and interfamilial genotype/phenotype correlation. This prompted us to investigate whether a similar correlation could be found for CHRPE in two unrelated APC pedigrees with this mutation. Fundus eye examination by indirect opthalmoscopy under maximal dilation was performed in affected patients. Assuming a Poisson distribution, the mean number of lesions significantly differed (p<<0.001) between family A (10/eye) and family B (2.5/eye). Comparing eyes or patients within each pedigree did not reveal any statistical difference with respect to the total number of lesions per eye. Interfamilial variability of CHRPE suggests that factors other than the APC gene defect itself are involved in the expression of this ocular trait. These results also indicate that CHRPE may be the only extracolonic APC sign displaying good intrafamilial genotype/phenotype correlation, unlike osteomas, epidermal cysts and desmoid tumors.

  15. Congenital glioblastoma coexisting with vascular developmental anomaly.

    PubMed

    Laure-Kamionowska, Milena; Szymanska, Krystyna; Biekiesinska-Figatowska, Monika; Gierowska-Bogusz, Barbara; Michalak, Elżbieta; Klepacka, Teresa

    2013-01-01

    Congenital central nervous tumours form a unique group of neoplasms. They are different from other tumour groups not only due to the onset time but also to their histopathology, anatomic location, and biologic behaviour. Congenital glioblastoma is one of the rarest types of congenital brain tumours and is uncommon in the prenatal period. We report a rare case of congenital glioblastoma detected prenatally by ultrasound examination and magnetic resonance imaging at 26 gestational weeks. Based on MRI findings and consultation of a team of specialists, pregnancy was terminated at 28 weeks. The newborn presented hydrops foetal. The child died shortly after birth due to cardiorespiratory insufficiency. At autopsy a large tumour with a spongy-like appearance was found. The tumour involved nearly the whole right cerebral hemisphere and led to marked hydrocephalus. In the histological and immunohistochemical examination, the tumour presented features of glioblastoma. Neoplastic cells were immunopositive for GFAP, S-100 protein and negative for neuronal markers. Frequent mitoses and high MIB-1 labelling index were seen in the tumour areas. The coexistence of tumour and vascular developmental anomaly was stated. The conglomerates of numerous, distended, thin-walled foetal-like blood vessels were located beside the tumour tissue, which presented disturbance in differentiation and maturation of the vascular net. Such coexistence of malignant glioma with vascular developmental anomaly is unique.

  16. Unilateral congenital elbow luxation in a dachshund

    PubMed Central

    Fafard, Alain R.

    2006-01-01

    Congenital elbow luxation was diagnosed in a 12-week-old, intact male, dachshund with a lateral elbow prominence and mild lameness of the right forelimb. Closed reduction of the radial head, ulnar ostectomy, and external stabilization of the joint were performed. Function was returned to the limb, but radial head and ulnar subluxation persisted. PMID:17017659

  17. 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.

  18. Why prevent, diagnose and treat congenital toxoplasmosis?

    PubMed Central

    McLeod, Rima; Kieffer, Francois; Sautter, Mari; Hosten, Tiffany; Pelloux, Herve

    2009-01-01

    Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: antiparasitic agents abrogate Toxoplasma gondii tachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis. PMID:19430661

  19. Bilateral macular colobomas in Leber's congenital amaurosis.

    PubMed

    Murayama, K; Adachi-Usami, E

    1989-06-01

    Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.

  20. Congenital pancreatic anomalies, variants, and conditions.

    PubMed

    Alexander, Lauren F

    2012-05-01

    Understanding pancreatic development and the congenital anomalies and variants that result from alterations in normal development allows for better recognition of these anomalies at diagnostic imaging. This article reviews normal pancreatic embryology and anatomy, and the appearance of the more common developmental anomalies and ductal variants, with emphasis on computed tomography and magnetic resonance imaging. Common mimics of masses are also covered.

  1. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    PubMed

    Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

    2016-01-01

    The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible.

  2. Congenital oesophageal achalasia in the dog

    PubMed Central

    Earlam, Richard J.; Zollman, Paul E.; Ellis, F. Henry

    1967-01-01

    A 3-month-old German shepherd puppy with a congenitally dilated oesophagus had radiographic, cinefluoroscopic, and oesophageal motility studies before a modified Heller operation was performed. Subsequent examination of the oesophagus revealed no ganglion cells, and the condition was considered to be identical with human achalasia. In dogs, this appears to be more common in the German shepherd breed. Images PMID:6069217

  3. 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

  4. DNA methylation abnormalities in congenital heart disease.

    PubMed

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  5. Genetics Home Reference: severe congenital neutropenia

    MedlinePlus

    ... Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, ... PubMed or Free article on PubMed Central Schäffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: ...

  6. [Congenital left sinus of Valsalva aneurysm].

    PubMed

    Simões, M V; Figueira, R R; Barbato, D; Miziara, H L

    1991-01-01

    Two cases of left sinus of Valsalva congenital aneurysm (SVCA), incidentally found are described. The authors call attention on rarity of them, and present new concepts about their morphogenesis and incidence. They also suggested a higher incidence of asymptomatic and undiagnosed cases of SVCA should be considered.

  7. Congenital tuberculosis: presentation of a rare case.

    PubMed

    Şen, Velat; Selimoğlu Şen, Hadice; Aktar, Fesih; Uluca, Ünal; Karabel, Müsemma; Fuat Gürkan, Mehmet

    2015-04-01

    Congenital tuberculosis is a rare disease with a high mortality rate. Congenital tuberculosis is considered the result of mother-to-child transmission from the placenta to the fetus, through the ingestion of the amniotic fluid, or via transplacental transmission through the umbilical vein. Given the non-specific clinical signs of tuberculosis, it is usually difficult to diagnose it. The case of a 48-day-old male infant hospitalized due to weight loss, fever, cough, hemoptysis, and respiratory distress for the past 20 days, is presented. In this period, he had received broad spectrum antibiotics but with no improvement. A chest x-ray showed the presence of consolidation and a cavitary lesion in the upper and middle left lung fields. Mycobacterium tuberculosis was detected by polymerase chain reaction in a bronchoalveolar lavage specimen. Congenital tuberculosis was diagnosed based on this finding; hence, a tuberculostatic regimen was started accordingly. The patient died 13 days after treatment initiation. Congenital tuberculosis should be considered in infants with weight loss, fever, cough, hemoptysis and respiratory distress.

  8. Congenitally Blind Counselor, Adventitiously Blind Client.

    ERIC Educational Resources Information Center

    Roberts, A. H.

    1994-01-01

    A counselor blind from birth describes personal difficulties in fully understanding the experience of clients who are adventitiously blind. Congenitally blind counselors are urged to recognize that adaptive methods cannot compensate for the panoramic view of the environment provided by vision and that recently blinded individuals need to deal with…

  9. Congenital Cystic Malformation of the Bile Ducts

    PubMed Central

    Hogarth, Jean; Laird, R. C.

    1966-01-01

    A 20-year-old woman had a cyst of the proximal part of the common bile duct and a cyst of the left hepatic duct; these lesions were diagnosed preoperatively by intravenous cholangiography and successfully operated upon. At the time of writing, she has been followed up for one year. Congenital defects in the biliary system are rare and, in a review of the literature, only two cases were found similar to this one. It is generally accepted that these lesions are congenital, but the exact pathogenesis is unknown. Alonso-Lej, Rever and Pessagno2 reviewed the literature in 1959 and found 403 authentic congenital cysts of the hepatic ducts. The most common congenital defect is a single choledochal cyst of the lower end of the common bile duct. Pain, jaundice and tumour are the main symptoms. Until the advent of intravenous cholangiography, these lesions were seldom recognized preoperatively. Means of operative repair as well as complications and prognosis are reviewed. ImagesFig. 1Fig. 2Fig. 3 PMID:5937201

  10. Congenital Disorders of Glycosylation and Intellectual Disability

    ERIC Educational Resources Information Center

    Wolfe, Lynne A.; Krasnewich, Donna

    2013-01-01

    The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

  11. Medullary sponge kidney associated with congenital hemihypertrophy.

    PubMed

    Indridason, O S; Thomas, L; Berkoben, M

    1996-08-01

    Medullary sponge kidney is a developmental disorder characterized by ectatic and cystic malformation of the collecting ducts and tubules. Clinical manifestations include urinary tract infections, renal stones, and hematuria. It can be associated with other developmental disorders. A case of medullary sponge kidney associated with congenital hemihypertrophy, complicated by nephrocalcinosis and nephrolithiasis, is reported here.

  12. Congenital hepatic cyst with intracystic hemorrhage

    PubMed Central

    Ni, Qingqiang; Zhang, Minfeng; Yang, Cheng; Cai, Wenchang; Zhao, Qian; Shen, Weifeng; Yang, Jiamei

    2016-01-01

    Abstract Introduction: Fast-growing congenital hepatic cysts with intracystic hemorrhage are rare in clinical practice. Additionally, the clinical manifestations of and laboratory and imaging findings for this condition are often nonspecific and are particularly difficult to differentiate from those of hepatobiliary cystadenoma and cystadenocarcinoma, thus posing great challenges for diagnosis and treatment. The 2 case reports presented here aim to analyze the diagnosis and treatment of 2 rare cases of congenital hepatic cysts with intracystic hemorrhage in the Chinese Han population to provide an important reference for the clinical diagnosis and treatment of this condition. Diagnoses: These 2 case reports present 2 rare cases of congenital hepatic cysts with intracystic hemorrhage. Case 1 involved a 31-year-old patient with a very large, fast-growing hepatic cyst with intracystic hemorrhage and elevated carbohydrate antigen 199. Case 2 involved a patient with intense, paroxysmal right upper abdominal pain; computed tomography suggested a hepatic cyst with intracystic hemorrhage and possibly hepatobiliary cystadenoma. Outcomes: Both patients underwent liver resection. Postoperative follow-up showed that for both patients, the symptoms improved, the laboratory findings returned to normal levels, and the surgical outcomes were satisfactory. Conclusion: Liver resection is an ideal treatment for patients with congenital hepatic cysts with intracystic hemorrhage, and especially those with fast-growing, symptomatic hepatic cysts or hepatic cysts that are difficult to differentiate from hepatobiliary cystadenoma and cystadenocarcinoma. PMID:27759646

  13. Genetics of Nonsyndromic Congenital Hearing Loss

    PubMed Central

    Egilmez, Oguz Kadir; Kalcioglu, M. Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  14. Congenital cytomegalovirus infection – An update

    PubMed Central

    Friedman, Smadar; Ford-Jones, E Lee

    1999-01-01

    Cytomegalovirus is estimated to be the leading infectious cause of nonheriditary sensorneural loss and a significant cause of mental retardation. Approximately 1% of newborn infants are congenitally infected with the virus. This review summarizes recent developments concerning this infection, including clinical outcome, risk factors for aquisition diagnosis and therapy. PMID:20212987

  15. Prevalence of congenital muscular dystrophy in Italy

    PubMed Central

    Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Monforte, Mauro; Minetti, Carlo; Mongini, Tiziana; Ricci, Enzo; Gorni, Ksenija; Battini, Roberta; Villanova, Marcello; Politano, Luisa; Gualandi, Francesca; Ferlini, Alessandra; Muntoni, Francesco; Santorelli, Filippo Maria; Bertini, Enrico; Pane, Marika

    2015-01-01

    Objective: We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. Methods: Cases were ascertained from the databases in all the tertiary referral centers for pediatric neuromuscular disorders and from all the genetic diagnostic centers in which diagnostic tests for these forms are performed. Results: The study includes 336 patients with a point prevalence of 0.563 per 100,000. Mutations were identified in 220 of the 336 (65.5%). The cohort was subdivided into diagnostic categories based on the most recent classifications on congenital muscular dystrophies. The most common forms were those with α-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin α2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). Conclusions: Our study provides for the first time comprehensive epidemiologic information and point prevalence figures for each of the major diagnostic categories on a large cohort of congenital muscular dystrophies. The study also reflects the diagnostic progress in this field with an accurate classification of the cases according to the most recent gene discoveries. PMID:25653289

  16. Congenital epulis: A rare benign tumour.

    PubMed

    Wong, D K C; Ramli, R; Muhaizan, W M; Primuharsa Putra, S H A

    2016-10-01

    Congenital epulis is a rare benign pedunculated tumour of the oral cavity arising from the alveolar ridges. It is usually detected in newborns and can be successfully resected surgically. We report a case of a newborn baby who had a 5x3x3cm pedunculated lobar mass arising from the upper alveolar ridge.

  17. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

    PubMed

    Lanikova, Lucie; Lorenzo, Felipe; Yang, Chunzhang; Vankayalapati, Hari; Drachtman, Richard; Divoky, Vladimir; Prchal, Josef T

    2013-05-09

    Germline von Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome comprising a predisposition for renal cell carcinoma, pheochromocytoma/paraganglioma, cerebral hemangioblastoma, and endolymphatic sac tumors. However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3' VHL gene mutations in exon 3. It was proposed that different positions of loss-of-function VHL mutations are associated with VHL syndrome cancer predisposition and only C-terminal domain-encoding VHL mutations would cause polycythemia. However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. We show that VHL(P138L) has perturbed interaction with hypoxia-inducible transcription factor (HIF)1α. Further, VHL(P138L) protein has decreased stability in vitro. Similarly to what was reported in Chuvash polycythemia and some other instances of HIFs upregulation, VHL(P138L) erythroid progenitors are hypersensitive to erythropoietin. Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.

  18. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer

    PubMed Central

    Lanikova, Lucie; Lorenzo, Felipe; Yang, Chunzhang; Vankayalapati, Hari; Drachtman, Richard; Divoky, Vladimir

    2013-01-01

    Germline von Hippel–Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome comprising a predisposition for renal cell carcinoma, pheochromocytoma/paraganglioma, cerebral hemangioblastoma, and endolymphatic sac tumors. However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3′ VHL gene mutations in exon 3. It was proposed that different positions of loss-of-function VHL mutations are associated with VHL syndrome cancer predisposition and only C-terminal domain-encoding VHL mutations would cause polycythemia. However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. We show that VHLP138L has perturbed interaction with hypoxia-inducible transcription factor (HIF)1α. Further, VHLP138L protein has decreased stability in vitro. Similarly to what was reported in Chuvash polycythemia and some other instances of HIFs upregulation, VHLP138L erythroid progenitors are hypersensitive to erythropoietin. Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHLP138L granulocytes. PMID:23538339

  19. Congenital toxoplasmosis and prenatal care state programs

    PubMed Central

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  20. Changing Landscape of Congenital Heart Disease.

    PubMed

    Bouma, Berto J; Mulder, Barbara J M

    2017-03-17

    Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

  1. Superior sulcus tumors (Pancoast tumors)

    PubMed Central

    Battistella, Lucia; Mammana, Marco; Calabrese, Francesca; Rea, Federico

    2016-01-01

    Superior Sulcus Tumors, frequently termed as Pancoast tumors, are a wide range of tumors invading the apical chest wall. Due to its localization in the apex of the lung, with the potential invasion of the lower part of the brachial plexus, first ribs, vertebrae, subclavian vessels or stellate ganglion, the superior sulcus tumors cause characteristic symptoms, like arm or shoulder pain or Horner’s syndrome. The management of superior sulcus tumors has dramatically evolved over the past 50 years. Originally deemed universally fatal, in 1956, Shaw and Paulson introduced a new treatment paradigm with combined radiotherapy and surgery ensuring 5-year survival of approximately 30%. During the 1990s, following the need to improve systemic as well as local control, a trimodality approach including induction concurrent chemoradiotherapy followed by surgical resection was introduced, reaching 5-year survival rates up to 44% and becoming the standard of care. Many efforts have been persecuted, also, to obtain higher complete resection rates using appropriate surgical approaches and involving multidisciplinary team including spine surgeon or vascular surgeon. Other potential treatment options are under consideration like prophylactic cranial irradiation or the addition of other chemotherapy agents or biologic agents to the trimodality approach. PMID:27429965

  2. Congenital mesoblastic nephroma 50 years after its recognition: A narrative review.

    PubMed

    Gooskens, S L; Houwing, M E; Vujanic, G M; Dome, J S; Diertens, T; Coulomb-l'Herminé, A; Godzinski, J; Pritchard-Jones, K; Graf, N; van den Heuvel-Eibrink, M M

    2017-01-26

    Congenital mesoblastic nephroma (CMN) is a rare pediatric renal tumor with low malignant potential that most commonly occurs early in infancy. Treatment strategies are based on the few published CMN series, while a significant number of CMN patients have been described in case reports. The aim of this narrative review was to create an up-to-date overview of the literature. Complete surgical removal is curative in most cases. The risk of treatment-related mortality (both surgery- and chemotherapy-related) is relatively high in the first weeks of life, indicating that these young patients deserve special attention with respect to timing and type of treatment.

  3. Pituitary Tumors

    MedlinePlus

    ... almost always benign (not cancerous), but can cause hormonal imbalances and interfere with the normal function of the pituitary gland. Because the pituitary affects so many functions of the body, ... the tumor mass or hormonal changes (either too much or too little hormone). ...

  4. MR imaging of the female pelvis: current perspectives and review of genital tract congenital anomalies, and benign and malignant diseases.

    PubMed

    Patel, V H; Somers, S

    1997-10-01

    MR imaging continues to be an integral problem-solving modality in the evaluation of congenital anomalies and acquired diseases of the female genital tract organs and provides effective clinical information to the practicing gynecologist in those patients in whom sonography is technically suboptimal or the results are equivocal. This article describes the state-of-the art MR imaging of the female pelvis and addresses its current perspectives in the following sections: (1) technical aspects of MR in imaging the female pelvis, (2) normal pelvic anatomy and variations that are seen on MRI, (3) role of MRI in the diagnosis of congenital uterine and vaginal anomalies, (4) MR imaging approach to diagnose congenital uterine and vaginal anomalies, (5) advantages and limitations of MR in the evaluation of various benign diseases and malignant neoplasms of the female genital tract, (6) a MR staging system and criteria for each gynecologic malignancy, (7) fundamental MR criteria to differentiate benign from malignant tumors and recurrent tumors from fibrosis, and (8) the present cost-effective value of MR in pregnancy and obstetrics. Magnetic resonance (MR) technology continues to be an important problem-solving modality in the evaluation of benign, malignant, and recurrent diseases of the female pelvic organs with the development of new software and improved hardware over the last few years. The main issues addressed in this article are (1) to review the basic and expanded applications of the current state-of-the art MR imaging in the diagnosis and management of various congenital and acquired disorders of the female pelvic organs, (2) to illustrate a simplified clinico-radiologic (MRI) approach to the diagnosis of congenital and acquired pathologies of the pelvic organs, (3) to provide relevant information to the clinicians to make rational choices among the competing imaging modalities, and (4) to outline the future potential of this modality in the pelvis.

  5. "Cancer tumor".

    NASA Astrophysics Data System (ADS)

    Bronshtehn, V. A.

    The title is a phrase borrowed from a speech by a Leningrad pressman, V. E. Lvov, who called upon those attending a theoretical conference on ideological issues in astronomy held by the Leningrad Branch of the All-Union Astronomic and Geodetic Society (13 - 4 December 1948), "to make a more radical emphasis on the negative role of relativistic cosmology which is a cancer tumor disintegrating the contemporary astronomy theory, and a major ideological enemy of a materialist astronomy".

  6. Multidisciplinary Oncoplastic Approach Reduces Infection in Chest Wall Resection and Reconstruction for Malignant Chest Wall Tumors

    PubMed Central

    Malahias, Marco N.; Balasubramanian, Balapathiran; Djearaman, Madava G.; Naidu, Babu; Grainger, Melvin F.; Kalkat, Maninder

    2016-01-01

    Background: Management of complex thoracic defects post tumor extipiration is challenging because of the nature of pathology, the radical approach, and the insertion of prosthetic material required for biomechanical stability. Wound complications pose a significant problem that can have detrimental effect on patient outcome. The authors outline an institutional experience of a multidisciplinary thoracic oncoplastic approach to improve outcomes. Methods: Prospectively collected data from 71 consecutive patients treated with chest wall resection and reconstruction were analyzed (2009–2015). The demographic data, comorbidities, operative details, and outcomes with special focus on wound infection were recorded. All patients were managed in a multidisciplinary approach to optimize perioperative surgical planning. Results: Pathology included sarcoma (78%), locally advanced breast cancer (15%), and desmoids (6%), with age ranging from 17 to 82 years (median, 42 years) and preponderance of female patients (n = 44). Chest wall defects were located anterior and anterolateral (77.5%), posterior (8.4%), and apical axillary (10%) with skeletal defect size ranging from 56 to 600 cm2 (mean, 154 cm2). Bony reconstruction was performed using polyprolene mesh, methyl methacrylate prosthesis, and titanium plates. Soft tissue reconstructions depended on size, location, and flap availability and were achieved using regional, distant, and free tissue flaps. The postoperative follow-up ranged from 5 to 70 months (median, 32 months). All flaps survived with good functional and aesthetic outcome, whereas 2 patients experienced surgical site infection (2.8%). Conclusions: Multidisciplinary thoracic oncoplastic maximizes outcome for patients with large resection of chest wall tumors with reduction in surgical site infection and wound complications particularly in association with rigid skeletal chest wall reconstruction. PMID:27536488

  7. Cyanotic congenital heart disease and atherosclerosis.

    PubMed

    Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas; Holstein-Rathlou, Niels-Henrik; Søndergaard, Lars

    2017-03-04

    Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether patients with CCHD are protected against atherosclerosis. Results have shown that the coronary arteries of patients with CCHD are free from plaques and stenosis. Decreased carotid intima-media thickness and low total plasma cholesterol may indicate a reduced risk of later development of atherosclerosis. However, the evidence is still sparse and questionable, and a reasonable explanation for the decreased risk of developing atherosclerosis in patients with CCHD is still missing.This review provides an overview of what is known about the prevalence and potential causes of the reduced risk of atherosclerosis in patients with CCHD.

  8. Congenital adrenal hyperplasia with cholestatic jaundice.

    PubMed

    Ali, Nisreen Feroz; Zafar, Farhana; Bangash, Areeb Sohail; Malik, Abdul; Mohammedi, Karimunnisa

    2014-01-01

    Congenital Adrenal Hyperplasia describes a group of autosomal recessive disorders characterized by a decrease in Cortisol production. 11 beta hydroxylase deficiencies is the second most common form. However, its presentation with cholestatic jaundice is extremely rare. We present a case of a 29-day-old infant who came to us with unusual dark complexion, persistent jaundice, and electrolyte imbalance. On investigation he was diagnosed as a case of congenital adrenal hyperplasia. Treatment with hydrocortisone and fludrocortisone cleared his jaundice and complexion with subsequent improvement in electrolytes. The aim of this report is to illustrate an unusual presentation of CAH with Cholestatic jaundice. This is the first case to be reported from Pakistan. The case outlines the difficult workup that was encountered in the diagnosis and management of the patient.

  9. Congenital amusia in childhood: a case study.

    PubMed

    Lebrun, Marie-Andrée; Moreau, Patricia; McNally-Gagnon, Andréane; Mignault Goulet, Geneviève; Peretz, Isabelle

    2012-06-01

    Here we describe the first documented case of congenital amusia in childhood. AS is a 10-year-old girl who was referred to us by her choir director for persisting difficulties in singing. We tested her with the child version of the Montreal Battery for the Evaluation of Amusia (MBEA) which confirmed AS's severe problems with melodic and rhythmic discrimination and memory for melodies. The disorder appears to be limited to music since her audiometry as well as her intellectual and language skills are normal. Furthermore, the musical disorder is associated to a severe deficit in detecting small pitch changes. The electrical brain responses point to an anomaly in the early stages of auditory processing, such as reflected by an abnormal mismatch negativity (MMN) response to small pitch changes. In singing, AS makes more pitch than time errors. Thus, despite frequent and regular musical practice, AS's profile is similar to the adult form of congenital amusia.

  10. [Thoracic kidney: congenital or traumatic origin?].

    PubMed

    Esquis, P; Osmak, L; Ognois, P; Goudet, P; Cougard, P

    2006-04-01

    The discovery of a thoracic kidney in adult patients can lead to three diagnoses, yielding different prognoses and treatment. It can either mean traumatic or congenital diaphragmatic hernia, or a congenital ectopic kidney. Intrathoracic herniation of the left kidney trough a left diaphragmatic rupture is an exceptional discovery. We report the case of a 44 year-old man who met with a car accident 20 years ago, and presented abdominal pain. CT-scan showed an intrathoracic herniation of the left kidney trough a left posterior diaphragmatic rupture. Laparoscopic approach in lateral position showed a traumatic hernia of the left costo-diaphragmatic hiatus only containing the left kidney and its pedicle. After reduction of herniated left kidney into the abdomen, the hiatus was closed by non-resorbable prosthetic mesh. Postoperative course was uneventful.

  11. Congenital Malalignment of the Great Toenail.

    PubMed

    Fierro-Arias, Leonel; Morales-Martínez, André; Zazueta-López, Rosa María; Ramírez-Dovala, Silvia; Bonifaz, Alexandro; Ponce-Olivera, Rosa María

    2015-01-01

    Congenital malalignment of the great toenail (CMA) is a disorder of the anatomic orientation of the ungual apparatus, in which the longitudinal axis of the nail plate is not parallel with the axis of the distal phalanx but is deflected sideways. This disorder is understood to arise from multiple factors. Although many theories have been proposed about its origin, its pathogenesis is not fully known. Besides the cosmetic impact, this disorder causes such problems in the medium and long term as onychocryptosis and difficulty in motion. Some cases may regress spontaneously, although persistent cases may require a specialized surgical approach. Congenital malalignment of the great toenail is poorly understood and described medical condition that is often treated incorrectly; thus, reviewing the subject is important. A symptombased clinical classification system is proposed to guide diagnosis and treatment modality decisions.

  12. Congenital Melanocytic Nevus Syndrome: A Case Series.

    PubMed

    Recio, A; Sánchez-Moya, A I; Félix, V; Campos, Y

    2017-01-19

    Congenital melanocytic nevus syndrome (CMNS) is the result of an abnormal proliferation of melanocytes in the skin and central nervous system caused by progenitor-cell mutations during embryonic development. Mutations in the NRAS gene have been detected in many of these cells. We present 5 cases of giant congenital melanocytic nevus, 3 of them associated with CMNS; NRAS gene mutation was studied in these 3 patients. Until a few years ago, surgery was the treatment of choice, but the results have proved unsatisfactory because aggressive interventions do not improve cosmetic appearance and only minimally reduce the risk of malignant change. In 2013, trametinib was approved for use in advanced melanoma associated with NRAS mutations. This drug, which acts on the intracellular RAS/RAF/MEK/pERK/MAPK cascade, could be useful in pediatric patients with CMNS. A better understanding of this disease will facilitate the development of new strategies.

  13. Assessment for congenital long QT syndrome.

    PubMed

    Heidenreich, Wayne F

    2003-01-01

    A 29-year-old male presented for an evaluation of his risk for having congenital long QT syndrome. Despite being asymptomatic and having a normal QTc interval on the resting ECG, a suggestive family history was an indication for a thorough cardiac evaluation. A geneticist reviewed this workup and recommended against genetic testing. While up to 10% of affected carriers of a congenital long QT syndrome gene mutation can be asymptomatic with a normal QTc, consideration of all of the clinical factors allowed for further risk stratification. The evaluation of an ECG for the long QT syndrome includes calculating a corrected QT interval for the heart rate and assessing the T-waves for morphology associated with this syndrome.

  14. [Macular coloboma type Leber's congenital amaurosis].

    PubMed

    Kiratli, H; Bozkurt, B

    2002-01-01

    Three brothers, with the macular coloboma type Leber's congenital amaurosis aged 10, 8, and 6 years respectively, are described in this report. Only the two elder brothers were symptomatic while the third patient had no complaint at the time of diagnosis. The patients had no associated systemic or ocular disorders, including nystagmus. They had mild myopic astigmatism. All three had a relatively well-circumscribed bilateral macular atrophy with a seemingly normal peripheral retina. The electroretinogram was non recordable but the visualy evoked potential responses were within normal limits. During three years of follow-up, the macular lesions did not progress and the visual acuity did not deteriorate further. Our experience with these three familial cases supports the general view that the macular coloboma variant does not necessarily have the typical signs and symptoms and perhaps also the dismal prognosis of classic Leber's congenital amaurosis, and as such should stand as a distinct subtype of the disease.

  15. 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.

  16. [Familial congenital hypomagnesemia revealed by neonatal convulsions].

    PubMed

    Ndiaye, M; Dehanin, T; Sow, A-D; Sène, M-S; Basse, A-M; Fall, A-L; Seck, L-B; Touré, K; Diop, A-G; Sow, H-D; Ndiaye, M-M

    2013-11-01

    Congenital hypomagnesemia is a rare disease, with an impact on cognitive and neurological development. We report on three familial cases of congenital hypomagnesemia, two boys and one girl who belong to the same consanguineous family. They all presented neonatal seizures and a psychomotor developmental delay. Cerebral computed tomography showed cerebral atrophy and calcifications in one case and magnetic resonance imaging found predominant cerebellar atrophy in the two other cases. All three patients also had hypocalcemia, hyperphosphoremia, and hypomagnesemia. The parathyroid hormone blood level was low in two cases and normal in the third. One 7-month old patient died. The others received a supplementation of calcium and magnesium, which normalized calcemia, phosphatemia but not magnesemia, which remained low despite high doses. They have both developed cognitive and behavioral impairments.

  17. Congenital lobar emphysema associated with polysplenia syndrome

    PubMed Central

    Choh, Naseer A.; Choh, Suhil A.; Jehangir, Majid; Naikoo, Bashir A.

    2010-01-01

    Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules. We report a case of polysplenia associated with congenital lobar emphysema apart from other typical anomalies. Such an association has not been previously reported. The patient was a young male with progressive exertional breathlessness referred for high resolution CT of the lungs. CT, MRI and echocardiography revealed (in addition to congenital lobar emphysema of right lung) a hemiazygos continuation of the inferior vena cava, a persistent left superior vena cava, multiple splenunculi in the right hypochondrium, midline liver, bilateral bilobed lungs, a large pulmonary artery (suggestive of severe pulmonary artery hypertension) and a large VSD—a typical constellation of findings described in polysplenia syndrome. PMID:20864788

  18. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

    PubMed Central

    Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven M.

    2015-01-01

    The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another. PMID:25792100

  19. Minor congenital anomalies and ataxic cerebral palsy.

    PubMed Central

    Miller, G

    1989-01-01

    The incidence of minor congenital anomalies was examined in 36 patients with ataxic cerebral palsy, in unaffected family members, and in 100 unrelated control subjects. None of the control subjects or family members had more than four anomalies, and 25 of 36 (69%) of the patients had more than four. The distribution of anomalies differed considerably, with 60% of the index cases having seven or more, and 94% of the controls having three or less. The number occurring in the patients was significantly more than in their relatives. Of the 25 patients with more than four anomalies, 16 (64%) had undergone potentially adverse perinatal or early postnatal events. Thus minor congenital anomalies were considerably more frequent in those with ataxic cerebral palsy than in related or unrelated control subjects. These anomalies may be markers of early prenatal factors that contributed to the adverse outcome either directly or by predisposing to perinatal difficulties. PMID:2751330

  20. Pulmonary arterial hypertension in congenital heart diseases.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2009-08-01

    Pulmonary hypertension complicates the course of many children and adults with congenital heart diseases (CHDs). The increase in pulmonary pressure associated with CHD is secondary to either increased pulmonary blood flow or increased postcapillary pressures. Pulmonary arterial hypertension is in the vast majority associated with congenital cardiac shunts. Despite major advances in the understanding of the regulation of the pulmonary vascular bed and the pulmonary endothelial lesions leading to pulmonary vascular disease, despite the advances in surgical repair and the discovery of potential therapies in the pre- and postoperative period, pulmonary hypertension still carries a significant mortality and morbidity in patients with CHD. The recent introduction of targeted therapies in other forms of pulmonary arterial hypertension has led to a renewed interest in pulmonary hypertension associated with CHD and this particularly for the most advanced form, the so-called Eisenmenger syndrome (ES). This review summarizes the current knowledge on pulmonary hypertension associated with CHD, focusing on the pathophysiology and treatment of ES.

  1. The global burden of congenital heart disease.

    PubMed

    Hoffman, Julien Ie

    2013-05-01

    Although the incidence of congenital heart disease (CHD) is similar worldwide, the burden of supporting these patients falls more heavily on countries with high fertility rates. In a country with a fertility rate of about eight per woman, the population has to support four times as many children with CHD as in a country with a fertility rate of two. Countries with the highest fertility rates tend to have the lowest incomes per capita, thus accentuating the disparity. Countries with high fertility rates have more children with congenital heart disease per wage earner. Improving local health services and controlling infectious diseases (diarrhoeal illness, rheumatic fever, measles, rotoviral infection) are important but are mere 'band-aids' compared to improving education, empowering women and reducing birth rates.

  2. Congenital anomalies of the optic nerve

    PubMed Central

    Amador-Patarroyo, Manuel J.; Pérez-Rueda, Mario A.; Tellez, Carlos H.

    2014-01-01

    Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually become more prevalent as our ability to differentiate between them has improved due to better characterization of cases. Access to better medical technology (e.g., neuroimaging and genetic analysis advances in recent years) has helped to expand our knowledge of these abnormalities. However, visual impairment may not be the only problem in these patients, some of these entities will be related to ophthalmologic, neurologic and systemic features that will help the physician to identify and predict possible outcomes in these patients, which sometimes may be life-threatening. Herein we present helpful hints, associations and management (when plausible) for them. PMID:25859137

  3. Congenital prosopagnosia: face-blind from birth.

    PubMed

    Behrmann, Marlene; Avidan, Galia

    2005-04-01

    Congenital prosopagnosia refers to the deficit in face processing that is apparent from early childhood in the absence of any underlying neurological basis and in the presence of intact sensory and intellectual function. Several such cases have been described recently and elucidating the mechanisms giving rise to this impairment should aid our understanding of the psychological and neural mechanisms mediating face processing. Fundamental questions include: What is the nature and extent of the face-processing deficit in congenital prosopagnosia? Is the deficit related to a more general perceptual deficit such as the failure to process configural information? Are any neural alterations detectable using fMRI, ERP or structural analyses of the anatomy of the ventral visual cortex? We discuss these issues in relation to the existing literature and suggest directions for future research.

  4. Stress imaging in congenital cardiac disease.

    PubMed

    Robbers-Visser, Daniëlle; Luijnenburg, Saskia E; van den Berg, Jochem; Moelker, Adriaan; Helbing, Willem A

    2009-12-01

    In patients with coronary arterial disease, stress imaging is able to demonstrate abnormalities in the motion of the ventricular walls, and abnormalities in coronary arterial perfusion not apparent at rest. It can also provide information on prognostic factors. In patients with congenitally malformed hearts, stress imaging is used to determine contractile reserve, abnormalities of mural motion, and global systolic function, but also to assess diastolic and vascular function. In most of these patients, stress is usually induced using pharmacological agents, mainly dobutamine given in varying doses. The clinical usefulness of abnormal responses to the stress induced in such patients has to be addressed in follow-up studies. The abnormal stress might serve as surrogate endpoints, predicting primary endpoints at an early stage, which are useful for stratification of risk in this population of growing patients. We review here the stress imaging studies performed to date in patients with congenitally malformed hearts, with a special emphasis on echocardiography and cardiac magnetic resonance imaging.

  5. Congenital varicella associated with multiple defects

    PubMed Central

    McKendry, J. B. J.; Bailey, J. D.

    1973-01-01

    Only two previous reports in the medical literature record the association of multiple congenital defects in the baby and varicella in the mother during the first trimester of pregnancy. The case is reported of a female infant born to a mother who contracted varicella in the 11th week of pregnancy. The infant was premature, small for dates, and had skin and localized muscular defects and respiratory difficulty. Subsequently she was found to be retarded. She failed to thrive and was subject to frequent infections. Further investigation revealed a unilateral diaphragmatic weakness, scoliosis and abnormalities of the ocular fundi. Several non-febrile seizures occurred. A pneumoencephalogram revealed dilated ventricles. She died at 20 months of age following a seizure. Consideration of maternal infections, especially viral, occurring early in pregnancy, augmented by antibody studies in the newborn and mother should be part of the investigation of multiple congenital defects in the newborn. PMID:4682642

  6. [Chagas disease in Peru: congenital transmission].

    PubMed

    Velarde, César Náquira

    2005-01-01

    American Trypanosomosis is an important parasitic infection in Peru. Human cases, reservoirs and vectors have been showed in two known geographic areas in the endemic zones: southwestern and northern and northeastern regions of the country; however vectors belonging to the three genera of triatominae: Triatoma, Panstrongylus and Rhodnius have been collected in almost all the territory. The serological surveys in blood banks in the southwestern region is 2-6% and human cases found out of the endemic areas show the possibility of congenital cases. The study of the prevalence is starting. This preliminary study performed on 3000 pregnant of Arequipa shows serological positives in 22 (0.7%) and only a newborn positive at IgM. This result indicates a probable low rate of congenital transmission and necessary to perform more studies.

  7. Congenital cystic eye with optic nerve.

    PubMed

    Holland, Lee; Haridas, Anjana; Phillips, Gael; Sullivan, Timothy

    2015-07-15

    Congenital cystic eye (CCE) is a rare condition caused by failure of invagination of the optic vesicle resulting in a persistent cyst replacing the eye. An associated optic nerve attached to the cyst is a rarely reported phenomenon that has been sparsely described histologically, with no immunohistochemistry reported previously. The authors present a case of CCE with optic nerve tissue inserting into the cyst, and present the histological and immunohistochemical findings.

  8. Congenital muscular torticollis: experience of 14 cases.

    PubMed

    Das, B K; Matin, A; Hassan, G Z; Hossain, M Z; Zaman, M A

    2010-10-01

    Congenital Muscular Torticollis (CMT) is a postural deformity of head and neck detected at birth or shortly after birth, primarily resulting from unilateral shortening of Sternocleidomastoid Muscle (SCM). In neonates and infants, patient may cure conservatively by physiotherapy but surgery is the treatment of choice for children and adolescents. There are various techniques of surgery. Here we show our experience regarding management of congenital muscular torticollis. In the present retrospective case series, fourteen patients of congenital muscular torticollis were treated. The cases were enrolled between Nov' 2005 to Oct' 2007 in Bangabandhu Sheikh Mujib Medical University, Gonosasthaya Somaj Vittik Medical College Hospital, Dhaka and different private clinics of Dhaka city of Bangladesh. Neonates and infants were treated conservatively with physiotherapy and others treated surgically by transection of both sternal and clavicular head of SCM under general anesthesia. Operated patients were released on following post operative day with advised to do physiotherapy. Patients age range from 7 days to 15 years of which ten were female and four male. SCM was shortened in all cases (8 on right side and 6 on left side). Eleven were female and three male. Of 14 patients, 2 neonates, 7 infants and 5 were more than 1 year age. There was no associated anomaly. Out of 9 neonates and infants 8 cured conservatively with physiotherapy and another one significantly improved. Six were treated surgically including one failed physiotherapy. Post operative period was uneventful and there was no complication. Results were evaluated clinically and comments of peers. Most of the patient of congenital muscular torticollis can be treated conservatively during infancy. Division of both sternal and clavicular head of SCM is easy and safe surgical technique for the treatment of CMT of older children and adolescents.

  9. Congenital cholesteatoma of the petrous pyramid.

    PubMed

    Horn, K L; Shea, J J; Brackmann, D E

    1985-09-01

    A 20-year follow-up was done on a patient with a large congenital cholesteatoma of the petrous apex. The patient was treated successfully with marsupialization through a radical mastoidectomy and sphenoid sinusotomy. Cranial computed tomography and magnetic resonance imaging demonstrated continued cholesteatoma growth. Bone-conduction thresholds remained normal despite replacement of the internal auditory canal by cholesteatoma matrix. The patient continues to have chronic otorrhea, but is otherwise asymptomatic.

  10. Pregnancy and Adult Congenital Heart Disease.

    PubMed

    Bhatt, Ami B; DeFaria Yeh, Doreen

    2015-11-01

    Most women with known congenital heart disease can have successful pregnancy, labor, and delivery. Preconception assessment is essential in understanding anatomy, repairs, and current physiology, all of which can influence risk in pregnancy. With that foundation, a multidisciplinary cardio-obstetric team can predict and prepare for complications that may occur with superimposed hemodynamic changes of pregnancy. Individuals with Eisenmenger syndrome, pulmonary hypertension, cyanosis, significant left heart obstruction, ventricular dysfunction, or prior major cardiac event are among the highest risk for complications.

  11. [Congenital neck mass. Diagnosis and treatment].

    PubMed

    Muñoz-Proto, F; Sarría-Echegaray, P; Epprecht-González, M P; Alba-Mesquida, J

    2016-01-01

    Congenital neck masses are a challenge for general practitioners and specialists. Although some of them are diagnosed in utero, most of them remain silent until complications appear in the adult age. The anatomical location, consistency and age are determinants in guiding the possible diagnosis. A midline infrahyoid mass may be a thyroglossal cyst, however a lateral neck mass is more possible to result in a brachial cyst. Complementary imaging studies are essential such as pathological tests like needle aspiration fine needle aspiration (FNA).

  12. Congenitally absent lumbar pedicle: a reappraisal

    SciTech Connect

    Wortzman, G.; Steinhardt, M.I.

    1984-09-01

    Three patients who had a diagnosis of congenitally absent lumbar pedicle underwent CT examination. Findings showed that each patient had an aberrant hypoplastic pedicle plus a retroisthmic defect in their ipsilateral lamina rather than an absent pedicle. Axial CT was the diagnostic modality of choice; reformated images were of little value. The differential diagnosis to be considered from the findings of plain film radiography includes pediculate thinning, neoplastic disease, neurofibroma, mesodermal dysplasia associated with neurofibromatosis, and vascular anomalies.

  13. Variant congenital dyserythropoietic anaemia with ringed sideroblasts.

    PubMed

    Brien, W F; Mant, M J; Etches, W S

    1985-01-01

    A family is described with mild anaemia characterized by marked dyserythropoiesis and by prominent ringed sideroblasts. Inheritance is autosomal recessive. Other features include marked microcytosis, poikilocytosis, mild haemolysis, slightly increased haemoglobin A2, bone marrow erythroid hyperplasia and non-specific structural abnormalities of erythroid precursors on electron microscopy. This appears to be a previously unreported type of hereditary anaemia with both dyserythropoiesis and ringed sideroblasts. We propose the designation 'variant congenital dyserythropoietic anaemia with ringed sideroblasts'.

  14. Acyanotic Congenital Heart Disease and Transesophageal Echocardiography

    PubMed Central

    Sreedhar, Rupa

    2017-01-01

    The spectrum of congenital heart disease (CHD) seen in the adult varies widely. Malformations range from mild anomalies requiring no intervention to extremely complex pathologies characterized by the presence of multiple coexistent defects. Echocardiography represents the primary noninvasive imaging modality in the assessment of these lesions. The transesophageal approach expands the applications of echocardiography by allowing the acquisition of anatomic and functional information that may not be obtainable by transthoracic imaging. PMID:28074821

  15. Congenital insensitivity to pain in one family.

    PubMed

    Svec, Andrey; Feldinszka, Jana; Kokavec, Milan

    2016-12-09

    Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutation in several different genes. The diagnosis requires the combined skills and cooperation of pediatricians, neurologists, radiologists, pathologists, and orthopedic surgeons. Orthopedic manifestations of CIP include delayed diagnosis of fractures, nonunions, Charcot arthropathy, avascular necrosis, osteomyelitis, joint dislocations, and heterotopic ossifications. We present case reports of two brothers with CIP with various orthopedic manifestations and methods of surgical treatment with 10 years of follow-up.

  16. Thoracic kidney associated with congenital diaphragmatic hernia.

    PubMed

    Rattan, Kamal N; Rohilla, Seema; Narang, Rajat; Rattan, Simmi K; Maggu, Sarita; Dhaulakhandi, Dhara B

    2009-09-01

    We report three cases of ectopic thoracic (or superior ectopic) kidney; one in a neonate and two in 6-month-old children, associated with congenital diaphragmatic hernia. In all cases the diagnosis was made during surgery and confirmed by intravenous pyelography, sonography and magnetic resonance imaging in the postoperative period. Because of the rarity of this condition we report these cases together with a wide review of the published reports.

  17. Management of complications of congenital hand disorders.

    PubMed

    Comer, Garet C; Ladd, Amy L

    2015-05-01

    This article reviews treatment and presents complications seen in the treatment of 7 common congenital hand differences, including syndactyly, camptodactyly, ulnar and radial polydactyly, thumb hypoplasia, radial longitudinal deficiency, and epidermolysis bullosa. The management of these conditions is challenging but has evolved over the last several decades with refined understanding of the disease processes and treatments. The goal of this article is to synthesize prior knowledge and provide further insights into these conditions that will help the surgeon avoid treatment complications.

  18. Severe congenital malaria acquired in utero.

    PubMed

    Poespoprodjo, Jeanne R; Hasanuddin, Afdal; Fobia, Wendelina; Sugiarto, Paulus; Kenangalem, Enny; Lampah, Daniel A; Tjitra, Emiliana; Price, Ric N; Anstey, Nicholas M

    2010-04-01

    Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully treated with intravenous artesunate followed by oral dihydroartemisinin-piperaquine, without apparent adverse effects.

  19. Brain tumor - primary - adults

    MedlinePlus

    ... Vestibular schwannoma (acoustic neuroma) - adults; Meningioma - adults; Cancer - brain tumor (adults) ... Primary brain tumors include any tumor that starts in the brain. Primary brain tumors can start from brain cells, ...

  20. Understanding Brain Tumors

    MedlinePlus

    ... to Know About Brain Tumors . What is a Brain Tumor? A brain tumor is an abnormal growth
 ... Tumors” from Frankly Speaking Frankly Speaking About Cancer: Brain Tumors Download the full book Questions to ask ...

  1. Brain tumor - children

    MedlinePlus

    ... children; Neuroglioma - children; Oligodendroglioma - children; Meningioma - children; Cancer - brain tumor (children) ... The cause of primary brain tumors is unknown. Primary brain tumors may ... (spread to nearby areas) Cancerous (malignant) Brain tumors ...

  2. Adrenal Gland Tumors: Statistics

    MedlinePlus

    ... Gland Tumor: Statistics Request Permissions Adrenal Gland Tumor: Statistics Approved by the Cancer.Net Editorial Board , 03/ ... primary adrenal gland tumor is very uncommon. Exact statistics are not available for this type of tumor ...

  3. Brain Tumor Diagnosis

    MedlinePlus

    ... Types of Brain Scans X-rays Laboratory Tests DNA Profiling Biopsy Procedure Malignant and Benign Brain Tumors Tumor ... Types of Brain Scans X-rays Laboratory Tests DNA Profiling Biopsy Procedure Malignant and Benign Brain Tumors Tumor ...

  4. Aortoiliac aneurysm with congenital right pelvic kidney.

    PubMed

    Date, Kazuma; Okada, Shuuichi; Ezure, Masahiko; Takihara, Hitomi; Okonogi, Shuuichi; Hasegawa, Yutaka; Sato, Yasushi; Kaneko, Tatsuo

    2015-05-01

    The association of congenital pelvic kidney with abdominal aortoiliac aneurysm is an extremely rare clinical finding. Previous reports have described various methods of aneurysm repair with successful preservation of the function of pelvic kidney. However, to our knowledge, reconstruction of more than two renal arteries has not been established. We report a case of abdominal aortic aneurysm complicated by congenital right pelvic kidney in a 72-year-old man. Computed tomography (CT) revealed an abdominal aortic aneurysm with a maximum diameter of 54 mm and a right common iliac aneurysm of 45 mm. In addition, he had a congenital right pelvic kidney and CT angiography identified three right pelvic renal arteries. The upper artery originated from the bifurcation of the terminal aorta and the lower two originated from the right common iliac artery. Three-dimensional CT was helpful for the accurate planning of the operation. Open surgical repair of the aortoiliac aneurysm with a Dacron bifurcated graft replacement was decided and reimplantation of all three right pelvic kidney arteries to the right limb of the graft was also performed. For renal preservation, the right pelvic kidney arteries were perfused with cold Ringer's lactate using a rapid infusion pump and coronary perfusion cannula. The patient's postoperative course was uneventful, and worsening of renal function was not observed. The perfusion of renal arteries with cold Ringer's solution was thought to be a simple and appropriate procedure for renal protection.

  5. Surgical Treatment of Congenital Hallux Varus

    PubMed Central

    Shim, Jong Sup; Koh, Kyoung Hwan; Lee, Do Kyung

    2014-01-01

    Background The purpose of this study was to report outcomes of congenital hallux varus deformity after surgical treatment. Methods We evaluated ten feet of eight patients with a congenital hallux varus deformity, including four feet combined with a longitudinal epiphyseal bracket (LEB). There were seven male patients and one female patient with a mean age of 33 months (range, 7 to 103 months) at the time of surgery. Two patients were bilaterally involved. The mean duration of follow-up was 5.9 years (range, 2.3 to 13.8 years). Clinical outcomes were assessed according to the criteria of Phelps and Grogan. Surgical procedures included the Farmer procedure, the McElvenny procedure or an osteotomy at the first metatarsal or proximal phalanx. Results The clinical results were excellent in two feet, good in six and poor in two feet. The LEB was associated with hallux varus in four feet and were treated by osteotomy alone or in conjunction with soft tissue procedure. Conclusions Congenital hallux varus was successfully corrected by surgery with overall favorable outcome. Preoperatively, a LEB should be considered as a possible cause of the deformity in order to prevent recurrent or residual varus after surgery. PMID:24900905

  6. 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

  7. 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.

  8. Congenital anomalies of kidney and urinary tract.

    PubMed

    Toka, Hakan R; Toka, Okan; Hariri, Ali; Nguyen, Hiep T

    2010-07-01

    Congenital anomalies of the kidney and urinary tract anatomy (CAKUT) are common in children and represent approximately 30% of all prenatally diagnosed malformations. CAKUT is phenotypically variable and can affect the kidney(s) alone and/or the lower urinary tract. The spectrum includes more common anomalies such as vesicoureteral reflux and, rarely, more severe malformations such as bilateral renal agenesis. In young children, congenital anomalies are the leading cause of kidney failure and for kidney transplantation or dialysis. CAKUT can also lead to significant renal problems in adulthood and may present itself with hypertension and/or proteinuria. Congenital renal anomalies can be sporadic or familial, syndromic (also affecting nonrenal or non-urinary tract tissues), or nonsyndromic. Genetic causes have been identified for the syndromic forms and have shed some light into the molecular mechanisms of kidney development in human beings. The genetic causes for the more common nonsyndromic forms of CAKUT are unknown. The role of prenatal interventions and postnatal therapies as well as the benefits of screening affected individuals and their family members are not clear.

  9. 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.

  10. Diagnostic approach to the congenital muscular dystrophies

    PubMed Central

    Bönnemann, Carsten G.; Wang, Ching H.; Quijano-Roy, Susana; Deconinck, Nicolas; Bertini, Enrico; Ferreiro, Ana; Muntoni, Francesco; Sewry, Caroline; Béroud, Christophe; Mathews, Katherine D.; Moore, Steven A.; Bellini, Jonathan; Rutkowski, Anne; North, Kathryn N.

    2017-01-01

    Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document we review the diagnostic features, differential diagnostic considerations and available diagnostic tools for the various CMD subtypes and provide a systematic guide to the use of these resources for achieving an accurate molecular diagnosis. An International Committee on the Standard of Care for Congenital Muscular Dystrophies composed of experts on various aspects relevant to the CMDs performed a review of the available literature as well as of the unpublished expertise represented by the members of the committee and their contacts. This process was refined by two rounds of online surveys and followed by a three-day meeting at which the conclusions were presented and further refined. The combined consensus summarized in this document allows the physician to recognize the presence of a CMD in a child with weakness based on history, clinical examination, muscle biopsy results, and imaging. It will be helpful in suspecting a specific CMD subtype in order to prioritize testing to arrive at a final genetic diagnosis. PMID:24581957

  11. Clinical presentation and management of congenital ptosis

    PubMed Central

    Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro

    2017-01-01

    Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. PMID:28280295

  12. Congenital Fibrosarcoma and History of Prenatal Exposure to Petroleum Derivatives

    PubMed Central

    Soldin, Offie P.; López-Hernández, Fernando A.; Trasande, Leonardo; Ferrís-Tortajada, Josep

    2012-01-01

    Congenital fibrosarcoma (CFS) is a rare fibrous tissue malignancy that usually presents in the first few years of life. It is unique among human sarcomas in that it has an excellent prognosis. We describe a temporal clustering of a number of cases of CFS and investigate the possible associated prenatal risk factors. The Pediatric Environmental History, a questionnaire developed in our clinic that is instrumental in determining environmental risk factors for tumor-related disease, was essential in documenting the presence or absence of risk factors considered as human carcinogens. We found a history of exposure to petroleum products in four cases of CFS that occurred at a greater than expected rate in a short time frame–an apparent cancer cluster. We call attention to the possibility that exposure to petroleum products raises the risk of developing CFS. While future studies should focus on systematic investigation of CFS and its underlying mechanisms, this report suggests the need for proactive measures to avoid exposure to solvents and petroleum products during pregnancy. PMID:22945410

  13. Sequential segmental classification of feline congenital heart disease.

    PubMed

    Scansen, Brian A; Schneider, Matthias; Bonagura, John D

    2015-12-01

    Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease.

  14. Genetics of Congenital Heart Disease: Past and Present.

    PubMed

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  15. Adult Congenital Heart Disease: Scope of the Problem.

    PubMed

    Mazor Dray, Efrat; Marelli, Ariane J

    2015-11-01

    This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce.

  16. WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

    PubMed

    Huynh, Minh Tuan; Boudry-Labis, Elise; Duban, Bénédicte; Andrieux, Joris; Tran, Cong Toai; Tampere, Heidi; Ceraso, Delphine; Manouvrier, Sylvie; Tachdjian, Gérard; Roche-Lestienne, Catherine; Vincent-Delorme, Catherine

    2017-04-11

    Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed. We identified a FOXE1: c.532_537delGCCGCC p.(Ala178_Ala179del) variant that predisposes to thyroid ectopia. Taken together, this is the first report of mosaic 11p13 deletion in association with thyroid dysgenesis. We also propose a model of complex interactions of different genetic variants for this particular phenotype in the present patient.

  17. Sarcomatoid carcinoma arising in the congenital pigmented nevus after treatment with carbon dioxide snow freezing method.

    PubMed

    Nakajima, Rina; Komine, Mayumi; Miyamoto, Yukiko; Fusumae, Takayuki; Fujita, Yurika; Maekawa, Takeo; Murata, Satoru; Fukushima, Noriyoshi; Ohtsuki, Mamitaro

    2015-11-01

    We report a case of sarcomatoid carcinoma of the skin in a 63-year-old man who was treated with the carbon dioxide snow freezing method for a huge congenital pigmented nevus that extended from the right upper extremity to the right trunk during childhood. He had an exophytic red tumor on the nevus in the right upper extremity that grew slowly for 4 years and rapidly recently. Histological and immunohistochemical studies revealed both epithelial and mesenchymal malignancy in the same tumor. The epithelial component was composed of basaloid cells forming multiple nests with peripheral palisading, positive for keratins and BerEP4, implying basal cell carcinoma. The mesenchymal component was composed of spindle-shaped cells negative for keratins and positive for vimentin, suggesting sarcoma. This is, to our knowledge, the first report of sarcomatoid carcinoma arising in the primary pigmented nevus that had been treated by the carbon dioxide snow freezing method.

  18. Quality measures for congenital and pediatric cardiac surgery.

    PubMed

    Jacobs, Jeffrey Phillip; Jacobs, Marshall Lewis; Austin, Erle H; Mavroudis, Constantine; Pasquali, Sara K; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Walters, Hal; Bacha, Emile A; Nido, Pedro J Del; Fraser, Charles D; Gaynor, J William; Hirsch, Jennifer C; Morales, David L S; Pourmoghadam, Kamal K; Tweddell, James S; Prager, Richard L; Mayer, John E

    2012-01-01

    This article presents 21 "Quality Measures for Congenital and Pediatric Cardiac Surgery" that were developed and approved by the Society of Thoracic Surgeons (STS) and endorsed by the Congenital Heart Surgeons' Society (CHSS). These Quality Measures are organized according to Donabedian's Triad of Structure, Process, and Outcome. It is hoped that these quality measures can aid in congenital and pediatric cardiac surgical quality assessment and quality improvement initiatives.

  19. Review of congenital inner ear abnormalities on CT temporal bone.

    PubMed

    Yiin, R S Z; Tang, P H; Tan, T Y

    2011-09-01

    The aetiology of profound hearing loss in children is complex and multifactorial. Congenital inner ear abnormality is a major cause of hearing loss in children. CT temporal bone imaging is the modality of choice in the investigation of hearing loss. Recognising the congenital abnormalities of the inner ear guides the clinician's management of the condition. This pictorial essay illustrates the congenital abnormalities of the inner ear on high resolution CT temporal bone images and correlation with developmental arrest during embryology.

  20. Congenital mesenteric hernia in neonates: Still a dilemma

    PubMed Central

    Mandhan, Parkash; Alshahwani, Noora; Al-Balushi, Zainab; Arain, Anwar

    2015-01-01

    Congenital transmesenteric hernia in neonates is a rare cause of intestinal obstruction with devastating outcomes and still remains a challenge to diagnose pre-operatively. Patients are often managed with emergency surgical exploration and may need bowel resection. We present 2 neonates with small bowel obstruction secondary to strangulated transmesenteric hernia through a congenital defect in the small bowel mesentery, which were managed successfully. We have also reviewed the literature about congenital transmesenteric hernia in neonates. PMID:26612129

  1. [Congenital dislocation of the knee: report of 2 cases].

    PubMed

    Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

    2015-01-01

    Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome.

  2. Semantic information can facilitate covert face recognition in congenital prosopagnosia.

    PubMed

    Rivolta, Davide; Schmalzl, Laura; Coltheart, Max; Palermo, Romina

    2010-11-01

    People with congenital prosopagnosia have never developed the ability to accurately recognize faces. This single case investigation systematically investigates covert and overt face recognition in "C.," a 69 year-old woman with congenital prosopagnosia. Specifically, we: (a) describe the first assessment of covert face recognition in congenital prosopagnosia using multiple tasks; (b) show that semantic information can contribute to covert recognition; and (c) provide a theoretical explanation for the mechanisms underlying covert face recognition.

  3. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    PubMed Central

    Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

    2014-01-01

    Background: There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Materials and Methods: Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Results: Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. Conclusions: This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period. PMID:24987252

  4. 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

  5. Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

    PubMed

    Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

    2013-05-01

    Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

  6. Radionuclide imaging of rare congenital renal fusion anomalies.

    PubMed

    Volkan, Bilge; Ceylan, Emel; Kiratli, Pinar Ozgen

    2003-03-01

    Demonstration of a congenital renal anomaly plays an important role in the treatment of patients with renal infection. These patients are prone to infections because of coexisting urinary tract anomalies such as duplicated ureter, ureter opening anomalies, and urinary stasis. Assessment of renal parenchymal damage resulting from acute or chronic renal infection is the primary indication for radionuclide imaging with Tc-99m DMSA. In addition, this technique allows congenital anomalies to be identified. The authors review congenital renal fusion anomalies identified in children through Tc-99m DMSA imaging. They conclude that Tc-99m DMSA imaging can reveal important diagnostic information about various congenital anomalies, including fusion anomalies.

  7. [Current gene study in etiological analysis of congenital craniofacial abnormalities].

    PubMed

    Feng, Yi-miao; Fang, Bing

    2007-04-01

    The cause of congenital craniofacial abnormalities are very complicated. Understanding of the gene mechanisms of abnormalities taking place are very important for prevention and therapy.DNA sequence analysis provides the fundaments of gene study of the congenital craniofacial abnormalities. Human genome project (HGP) paved the confirmation of candidate gene of the congenital craniofacial abnormalities.Transgenic animal models and gene knockout techniques are effective methods in study of gene function. This paper reviews current gene study in etiopathogenisis analysis of the congenital craniofacial abnormalities.

  8. Free radicals and antioxidants status in neonates with congenital malformation

    PubMed Central

    Mukhopadhyay, Bedabrata; Gongopadhyay, Ajay Narayan; Rani, Anjali; Gavel, Roshni; Mishra, Surendra Pratap

    2015-01-01

    Background: Several studies using animal models have shown that oxidative stress during pregnancy may play an important role in causing birth defects. Congenital anomalies affect an estimated 270,000 newborns who die during the first 28 days of life every year from different birth defects. Hence, at present many research works are going on to reduce the infant mortality from congenital anomaly.[1] Objective: The objective was to measure the oxidant and antioxidant level in the serum of newborn babies with the congenital anomaly and compare these levels with age and sex matched normal neonates. This is to identify any role of oxidative stress in the causation of congenital anomaly. Materials and Methods: This case-control study included 159 participants: 106 newborns with the congenital anomaly and 53 healthy newborns. The markers of oxidative stress like serum malondialdehyde (MDA) level, protein carbonyl (PC) level, and the activity of antioxidants such as Vitamin C, glutathione were measured in both cases (neonates with congenital anomaly) and controls (normal healthy neonates). These parameters were statistically compared. Results: MDA levels and PC levels were significantly higher (P < 0.0001), and Vitamin C and reduced glutathione levels were significantly lower (P < 0.0001), in newborns with congenital malformation than in healthy newborns. Conclusions: Increased lipid peroxidation and protein carbonylation might play an important role in the pathogenesis of congenital anomaly. Impairment of the free radical/antioxidant balance is leading to increased free radical damage in neonates with congenital malformation. PMID:26628809

  9. Genetics Home Reference: congenital fiber-type disproportion

    MedlinePlus

    ... health and development? More about Mutations and Health Inheritance Pattern Congenital fiber-type disproportion can have multiple inheritance patterns. When this condition is caused by mutations in ...

  10. 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.

  11. Congenital epulis of the newborn: difficult to diagnose but easy to treat. A case of unusual size.

    PubMed

    Tambasco, Damiano; Seccia, Annalisa; Bruno, Agostino; Seccia, Antonio

    2014-02-07

    The epulis or giant cell granuloma is a benign tumor of the connective tissue of the gingival mucosa frequent in an advanced period of life but much more rare in its congenital form. We present the case of a female newborn, otherwise healthy, presenting with a giant swelling protruding from her mouth and originating from upper left alveolar ridge. The size of the mass has created great anxiety in parents and pediatricians, however this clinical presentation suggested us a diagnosis of congenital epulis with a differential diagnosis of teratoma. We perform surgical resection of the mass under general anesthesia, through diathermy. There wasn't blood loss and postoperative recovery was uneventful. A definite diagnosis of giant congenital epulis was disclosed by histopathological and immunohistochemical analysis. Although it has not been yet clarified the etiology of this tumor and the role of hormonal influences on its appearance and development and despite have been reported cases of spontaneous regression, the treatment of choice is the early surgical excision. Nevertheless, particularly in the small centers, due to the rarity and large size of presentation, the diagnosis is often delayed or wrong, exposing so the newborn parents to useless days of waiting and anxiety In our opinion all pediatricians and surgeons should be aware of this malformation and of its simple, safe and effective surgical treatment, considering the excellent prognosis of this rare disease.

  12. Spectrum of renal pathology in adult patients with congenital renal anomalies-a series from a tertiary cancer center.

    PubMed

    Dhillon, Jasreman; Mohanty, Sambit K; Kim, Tim; Sexton, Wade J; Powsang, Julio; Spiess, Philippe E

    2014-02-01

    Congenital renal anomalies (CRAs) detected in adults include horseshoe kidney (HK), crossed renal ectopia, and malrotation. Congenital renal anomalies are rare, and renal lesions associated with CRA are rarer. Thirteen patients (11 men and 2 women) were referred to our center with renal masses in the context of CRAs, which included HK (10 cases), crossed renal ectopia (2 cases), and a pelvic kidney (1 case). The mean age at diagnosis was 60 years (37-76 years). All patients were treated with open surgery; 10, partial nephrectomies; 4, radical nephrectomies; and 1, nephroureterectomy with division of the renal isthmus. Pathology ranged from benign (simple cortical cysts, chronic pyelonephritis with secondary hydronephrosis) to malignant (12 cases of renal cell carcinomas [RCCs] and 1 case of urothelial carcinoma). Two patients of HKs presented with bilateral renal masses. The size of the RCC ranged from 2.5 to 13 cm. There were 11 cases of clear cell RCC, 1 case of papillary RCC (type 1), and 1 case of urothelial carcinoma. All the cases of RCC had negative surgical margins. Follow-up available in all patients ranged from 1 month up to 49 months. None of the patients developed any locoregional recurrences or distant metastases. In this patient cohort, the most common congenital anomaly associated with RCC is HK. All tumors behaved in an indolent fashion with prognosis related to pathologic tumor stage. Partial nephrectomy is a safe and effective procedure in appropriately selected patients.

  13. Offspring of patients treated for unilateral Wilms' tumor in childhood

    SciTech Connect

    Green, D.M.; Fine, W.E.; Li, F.P.

    1982-01-01

    Twenty-seven women and the wives of nine men who survived unilateral Wilms' tumor in childhood had a total of 59 live born offspring. Among the 33 infants born to women who had received orthovoltage abdominal irradiation, ten weighed less than 2500 g at birth and three died during the perinatal period. In addition, one term infant of normal weight died of complications of a breech delivery. Only one of 26 infants born to the wives of Wilms' tumor patients and unirradiated female patients weighed less than 2500 g at birth and none died. The frequency of congenital malformations and spontaneous abortions in this series was not increased, and no offspring has developed cancer. The findings suggest that the risk of Wilms' tumor is low among progeny of survivors of nonfamilial, unilateral lesions. Damage from abdominal irradiation given to girls with Wilms' tumor may predispose them to the subsequent delivery of low birthweight children.

  14. Complete congenital heart block in a neonate with a complex congenital heart defect in Africa

    PubMed Central

    Wawo, Edvine Yonta; Mfeukeu, Liliane Kuate; Makamte, Larissa; Edie, Sandrine Dikosso; Balana, Flore Esiene

    2016-01-01

    Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air. There were no signs of heart failure. Twelve lead electrocardiogram (ECG) demonstrated a complete atrioventricular conduction block with a junctional escape rhythm at 59/minute, left axis deviation and bi-ventricular hypertrophy. Two-dimensional echocardiography revealed a complex congenital heart disease with the following abnormalities: dextrocardia, complete atrioventricular canal with a single atrium and mild atrioventricular valve regurgitation and malposition of the great vessels with a posterior aorta and an anterior pulmonary artery. This case report highlights the challenges in the diagnosis and management of complex CHBs in low resource settings. A properly performed pregnancy follow-up with serial echocardiograms could aid in antenatal diagnosis and plan perinatal management when appropriate in order to optimize outcome. This emphasizes the clinical value of high quality antenatal care and proper screening. PMID:27904846

  15. Prognostic markers of symptomatic congenital cytomegalovirus infection.

    PubMed

    Romanelli, Roberta Maia de Castro; Magny, Jean François; Jacquemard, François

    2008-02-01

    The objective of this research was to identify maternal and fetal characteristics as prognostic markers of congenital cytomegalovirus (CMV) infection. This is a descriptive study of 13 cases of congenital CMV infection referred to Institute de Puericulture et Perinatologie de Paris (IPP) from January 2005 to October 2006. Amniotic fluid puncture was performed to research CMV polimerase chain reaction (PCR). Cordocentesis and cord blood samples at delivery were also analyzed to determinate fetal platelets count, GGT, ASAT, ALAT, CMV-DNA and IgM antibody. Variables of symptomatic and asymptomatic infants were then compared. Data were analyzed by SPSS--15.0. Mean gestational age of amniocentesis was 24.6 weeks and there was no difference of mean viral load in amniotic fluid considering infant features. Mean gestational age of cordocentesis was 26.1 weeks. There were no statistical differences of fetal viral load, IgM, platelets, GGT, ASAT and ALAT analyzed at cordocentesis samples, but at delivery, mean values of IgM and ASAT of fetal blood were increased in symptomatic ones (p= 0.03 for both parameters). When considering groups with normal and abnormal parameters, ASAT of cordon samples was also increased in symptomatic infants (p= 0.02). Sensibility, specificity, positive and negative predictive value of fetal ultrasound anomalies to detect symptomatic infants were, respectively, 80%, 62.5%, 57.1% and 83.3%. Thus, identification of markers of CMV symptomatic infants should be aimed. Prenatal diagnosis, identification and follow up of congenital CMV infected infants are important to consider treatment for symptomatic infants, trying to avoid or reducing some possible sequels.

  16. Transplant Center Search Form

    MedlinePlus

    ... Congenital dyskeratosis Other: Desmoid small round cell Other: Diamond Blackfan Anemia Other: DiGeorge anomaly Other: Dyserythropoietic anemia ... Retinoblastoma Other: Rhabdomyosarcoma Other: Sanfillipo Syndrome Other: Schwachman-Diamond ... SCIDS Other: Scleroderma Other: Scleromyxedema Other: ...

  17. Further Observations in Congenital Myasthenic Syndromes

    PubMed Central

    Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven M.

    2012-01-01

    During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Nav 1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS. PMID:18567859

  18. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

    PubMed

    Nimkarn, Saroj; Lin-Su, Karen; New, Maria I

    2011-10-01

    Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied.

  19. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

    PubMed Central

    Turcu, Adina F.; Auchus, Richard J.

    2015-01-01

    Synopsis Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD. PMID:26038201

  20. Yellowish flecks in Leber's congenital amaurosis.

    PubMed

    Chew, E; Deutman, A; Pinckers, A; Aan de Kerk, A

    1984-10-01

    The fundus abnormalities of Leber's congenital amaurosis are extremely variable, from normal to salt-and-pepper changes to typical retinitis pigmentosa. A less commonly seen appearance is that of multiple, irregular shaped, yellowish white flecks deep in the midperipheral retina in a periarteriolar distribution. The nasal fundus as well as the posterior pole are spared. Such a case is presented along with a four-year follow-up together with the fluorescein angiographic findings. The flecks appear to be specific for this entity.

  1. Ectopia cordis: a rare congenital anomaly.

    PubMed

    Gabriel, Abigail; Donnelly, Joseph; Kuc, Alexander; Good, Daniel; Doros, Gabriela; Matusz, Petru; Loukas, Marios

    2014-11-01

    Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis.

  2. Genetic causes of congenital diaphragmatic hernia

    PubMed Central

    Wynn, Julia; Yu, Lan; Chung, Wendy K.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics. PMID:25447988

  3. Genetic aspects of human congenital diaphragmatic hernia

    PubMed Central

    Pober, BR

    2010-01-01

    Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000–1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are genetically determined and also indicate that CDH is etiologically heterogeneous. The present review will provide a brief summary of diaphragm development and model organism work most relevant to human CDH and will primarily describe important human phenotypes associated with CDH and also provide recommendations for diagnostic evaluation of a fetus or infant with CDH. PMID:18510546

  4. Postnatal management of congenital bilateral renal hypodysplasia.

    PubMed

    La Scola, Claudio; Hewitt, Ian; Pasini, Andrea; Pugliese, Fabrizio; Montini, Giovanni

    2010-10-01

    Renal hypodysplasia (RHD) is a congenital disorder, characterized by an abnormally developed kidney. Mutations in genes such as PAX2, HNF1-beta, TCF2, EYA1, that encode factors critical in early renal development, are being found. RHD is the leading cause of chronic renal failure in childhood, with or without associated urologic abnormalities such as vesicoureteric reflux and urinary tract obstruction. Antenatal detection has improved understanding of this disorder, resulting in enhanced outcomes through earlier intervention, including peritoneal dialysis. Management requires a multidisciplinary team approach that commences prior to the birth of the child.

  5. [Congenital gastrointestinal diseases with manifestations in adulthood].

    PubMed

    Rösch, W

    1977-02-03

    A genetic background is discussed in many disorders of the gastrointestinal tract with a disposition in addition to environmental factors. The pathophysiology of most hereditary diseases is unknown although the mode of inheritance is established. Biochemical analysis may show molecular defects or inborn lack of enzymes, cytogenetic studies may reveal chromosomal abnormalities. The knowledge of genetic factors in gastrointestinal disorders may contribute to the early detection of persons afflicted but not yet symptomatic, in some rare syndromes genetic counseling may become mandatory. Finally, there are many congenital malformations which may not cause symptoms for many years so that doubts may arise whether they are developmental anomalies or acquired conditions.

  6. Reconstruction of congenital defects of the vagina.

    PubMed

    Eldor, Liron; Friedman, Jeffrey D

    2011-05-01

    Congenital absence of the vagina is a relatively rare condition most commonly associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Historically, several reconstructive techniques have been described to provide for functional vaginal reconstruction on these patients, both operative and nonoperative. Although there are many advantages and disadvantages of the various procedures, one experience with the use of split thickness skin grafts to reconstruct the vagina has produced acceptable functional results with limited donor site morbidity. Careful planning and timing of this form of reconstruction can produce predictable results in patients who are nearing sexual maturity.

  7. Hepatic heterotopia in congenital diaphragmatic anomaly

    PubMed Central

    Patel, Ramnik V; Wadhwani, Veena; Wyatt-Ashmead, Josephine; Abel, Robin M

    2013-01-01

    An antenatally diagnosed case of a left congenital diaphragmatic hernia is reported. The diaphragmatic eventration hernia sac consisted of a sheet of ectopic liver tissue in continuity with a hypoplastic left lobe which formed the medial anterior and posterior walls of the hernia is presented. The operative management of this combination of defects has not previously been described in English literature. Embryological considerations, limitations of accurate preoperative diagnosis, technical challenge in the operative repair of the defect and need for drainage is discussed. PMID:24042207

  8. [Perineal Groove: A Rare Congenital Anomaly].

    PubMed

    Barbosa, Manuel; Alves, Nuno; Fontes, Natacha

    2016-10-01

    Perineal groove is a rare congenital anorectal malformation, with incidence yet undetermined. It is almost exclusive to the female newborn and its embryogenic origin remains uncertain. We present a case-report of a newborn girl that was discharged from the nursery without complications. At her first appointment at primary care we noted a wet sulcus connecting the posterior vaginal commissure and the anus. This case report emphasizes the rarity of the perineal groove and the importance of a good quality history and physical examination at primary care.

  9. Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures

    PubMed Central

    Sucuoglu, Hamza; Ornek, Nurettin Irem; Caglar, Cagkan

    2015-01-01

    Arthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects. AMC affects mainly limbs; also it might present with other organs involvement. It is crucial that the diagnosis of AMC should be kept in mind by musculoskeletal physicians in newborns with multiple joint contractures and patients must begin rehabilitation in early stage after accurate diagnosis in terms of functional independence. We present the diagnosis, types, clinical features, and treatment approaches of this disease in our case with literature reviews. PMID:26604929

  10. Anatomical assessment of congenital heart disease.

    PubMed

    Wood, John C

    2006-01-01

    Cardiac MRI (CMR) is replacing diagnostic cardiac catheterization as the modality of choice for anatomic and functional characterization of congenital heart disease (CHD) when echocardiographic imaging is insufficient. In this manuscript, we discuss the principles of anatomic imaging of CHD, placing emphasis on the appropriate choice and modification of pulse sequences necessary to evaluate infants and small children. Clinical examples are provided to illustrate the relative strengths and shortcomings of different CMR imaging techniques. Although cardiovascular function and flow techniques are not described, their role in evaluating the severity of anatomic defects is emphasized. Anatomic characterization represents the first component of a carefully-planned, integrated CMR assessment of CHD.

  11. [Conservative treatment of congenital patellar dislocation].

    PubMed

    Zajonz, D; Schumann, E; Wojan, M; Moche, M; Heyde, C-E

    2017-02-01

    This article presents the rare case of a boy who was born in our hospital with valgus deformity and external rotation of the right lower leg because of congenital patellar dislocation. In the case presented a stable repositioning of the patella could be achieved by redressment with a plaster cast and leg brace. During a 4-year follow-up there were no tendencies towards dislocation during the clinical examination and no dislocation events were documented. In selected cases an attempt at conservative repositioning and retention treatment appears to be worthwhile before surgical treatment is indicated.

  12. Long term management of congenital cataracts.

    PubMed Central

    Burns, E C; Jones, R B

    1985-01-01

    Presentation and outcome, particularly in terms of development, nursery, and school placement of 55 children with treated congenital cataracts was studied. Results indicate that although most children have satisfactory vision many of their parents would have welcomed more support at the time of the diagnosis, an opportunity to talk to parents of similarly affected children, and further advice on their child's early development and educational placement. It is suggested that improved communications between clinicians, therapists, and teachers, and parents' support groups would be helpful to these families. PMID:3923944

  13. Congenital nystagmus cosegregating with a balanced 7;15 translocation.

    PubMed Central

    Patton, M A; Jeffery, S; Lee, N; Hogg, C

    1993-01-01

    We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100). Images PMID:8326501

  14. Primary congenital glaucoma associated with Patau syndrome with long survival.

    PubMed

    Jaru-Ampornpan, Pimkwan; Kuchtey, John; Dev, V G; Kuchtey, Rachel

    2010-06-23

    Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13.

  15. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    PubMed

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju

    2009-07-01

    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

  16. Spitz nevus arising upon a congenital glomuvenous malformation.

    PubMed

    Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

    2013-01-01

    There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM.

  17. Characteristics of Individuals with Congenital and Acquired Deaf-Blindness

    ERIC Educational Resources Information Center

    Dalby, Dawn M.; Hirdes, John P.; Stolee, Paul; Strong, J. Graham; Poss, Jeff; Tjam, Erin Y.; Bowman, Lindsay; Ashworth, Melody

    2009-01-01

    Using a standardized assessment instrument, the authors compared 182 adults with congenital deaf-blindness and those with acquired deaf-blindness. They found that those with congenital deaf-blindness were more likely to have impairments in cognition, activities of daily living, and social interactions and were less likely to use speech for…

  18. Mental and Behavioral Disorders among People with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2011-01-01

    The population of people with congenital deafblindness faces challenges concerning communication and mobility. Due to the significance of the sensory loss it is difficult to diagnose mental and behavioral disorders. This article investigates the prevalence of mental and behavioral disorders among 95 congenitally deafblind adults. Seventy-four…

  19. Keratoconus and Leber's congenital amaurosis: a clinicopathological correlation.

    PubMed

    Flanders, M; Lapointe, M L; Brownstein, S; Little, J M

    1984-12-01

    A 42-year-old man with Leber's congenital amaurosis, cataracts and keratoconus died following abdominal surgery. Postmortem pathological examination of the globes disclosed cone-shaped corneas with unusual central subepithelial scars and a retinopathy consistent with retinitis pigmentosa. A review of the family history revealed two siblings with congenital blindness.

  20. Congenital medium sternal cleft with partial ectopia cordis repair.

    PubMed

    Sousa, Paulo Rego; Antunes, Sónia; Couto, Alexandra; Santos, Gonçalo Cassiano; Leal, Luis Gagp; Magalhães, Manuel Pedro

    2009-01-01

    Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.

  1. Autism in a Child with Congenital Cytomegalovirus Infection.

    ERIC Educational Resources Information Center

    Markowitz, Phillip I.

    1983-01-01

    A case study is described in which early infantile autism was diagnosed in a child with congenital cytomegalovirus (CMU) infection. It is suggested that congenital infection should be considered as an etiological agent in autism. The case's synergistic effect of CMU-induced brain damage, deafness, and maternal deprivation in noted. (CL)

  2. Spatial Orientation and Congenital Blindness: A Neuropsychological Approach.

    ERIC Educational Resources Information Center

    Stuart, I.

    1995-01-01

    Tests of a neuropsychological model for spatial orientation in the absence of vision were developed and administered to 31 children with congenital blindness. Results support the neuropsychological model and indicate that some congenitally blind subjects had focal brain damage, sufficient to impair their capacity to be accurately oriented in…

  3. Isolated congenital palatal fistula without submucous cleft palate.

    PubMed

    Karacan, Mehmet; Olgun, Haşim; Tan, Onder; Caner, Ibrahim

    2009-09-01

    Congenital fistula of the palate is a rare deformity. It has been generally associated with cleft palate. Treatment of cleft palate is surgical intervention. We present a child with congenital fistula of palate that was not associated with submucous cleft and closed spontaneously at 18 months.

  4. A Case Report of Adrenocortical Adenoma Mimicking Congenital Adrenal Hyperplasia in a Young Girl.

    PubMed

    Sheng, Qingfeng; Lv, Zhibao; Xu, Weijue; Liu, Jiangbin; Wu, Yibo; Xi, Zhengjun

    2015-06-01

    Adrenal cortical tumors are rare in children. Secondary tumors associated with untreated congenital adrenal hyperplasia (CAH) have also been reported in pediatric population. It is difficult for pediatricians to differentiate these 2 lesions.We described a 4.5-year-old girl who presented with symptoms and signs of virilization. Bone age was 9.5 years. Genetic analysis of CYP21A2 and CYP11B1 revealed a heterozygous mutation of CYP11B1 at c.1157C>T (A386V). No germline p53 gene mutation including R337H was detected.The patient was first misdiagnosed as CAH and treated with hydrocortisone for 3 months. Diagnosis of an adrenal cortical tumor was confirmed by laboratory data and abdominal computed tomography. After resection of the tumor, serum steroids normalized and clinical signs receded. The child received no additional treatment and remains disease free after 12 months of close observation. Histological examination showed neoplasia cells with predominantly eosinophilic cytoplasm and few atypical mitotic figures. The proliferation-associated Ki-67 index was <1% detected by immunohistochemistry.Neoplasm is a rare but significant cause of precocious puberty (PP). The possibility of neoplasms should always be considered early to avoid delayed cancer diagnosis and treatment in cases of PP.

  5. A Case Report of Adrenocortical Adenoma Mimicking Congenital Adrenal Hyperplasia in a Young Girl

    PubMed Central

    Sheng, Qingfeng; Lv, Zhibao; Xu, Weijue; Liu, Jiangbin; Wu, Yibo; Xi, Zhengjun

    2015-01-01

    Abstract Adrenal cortical tumors are rare in children. Secondary tumors associated with untreated congenital adrenal hyperplasia (CAH) have also been reported in pediatric population. It is difficult for pediatricians to differentiate these 2 lesions. We described a 4.5-year-old girl who presented with symptoms and signs of virilization. Bone age was 9.5 years. Genetic analysis of CYP21A2 and CYP11B1 revealed a heterozygous mutation of CYP11B1 at c.1157C>T (A386V). No germline p53 gene mutation including R337H was detected. The patient was first misdiagnosed as CAH and treated with hydrocortisone for 3 months. Diagnosis of an adrenal cortical tumor was confirmed by laboratory data and abdominal computed tomography. After resection of the tumor, serum steroids normalized and clinical signs receded. The child received no additional treatment and remains disease free after 12 months of close observation. Histological examination showed neoplasia cells with predominantly eosinophilic cytoplasm and few atypical mitotic figures. The proliferation-associated Ki-67 index was <1% detected by immunohistochemistry. Neoplasm is a rare but significant cause of precocious puberty (PP). The possibility of neoplasms should always be considered early to avoid delayed cancer diagnosis and treatment in cases of PP. PMID:26107677

  6. How Are Wilms Tumors Diagnosed?

    MedlinePlus

    ... Tumor Early Detection, Diagnosis, and Staging How Are Wilms Tumors Diagnosed? Wilms tumors are usually found when a ... Your Child’s Doctor About Wilms Tumor? More In Wilms Tumor About Wilms Tumor Causes, Risk Factors, and Prevention ...

  7. Consensus statement on standard of care for congenital muscular dystrophies.

    PubMed

    Wang, Ching H; Bonnemann, Carsten G; Rutkowski, Anne; Sejersen, Thomas; Bellini, Jonathan; Battista, Vanessa; Florence, Julaine M; Schara, Ulrike; Schuler, Pamela M; Wahbi, Karim; Aloysius, Annie; Bash, Robert O; Béroud, Christophe; Bertini, Enrico; Bushby, Kate; Cohn, Ronald D; Connolly, Anne M; Deconinck, Nicolas; Desguerre, Isabelle; Eagle, Michelle; Estournet-Mathiaud, Brigitte; Ferreiro, Ana; Fujak, Albert; Goemans, Nathalie; Iannaccone, Susan T; Jouinot, Patricia; Main, Marion; Melacini, Paola; Mueller-Felber, Wolfgang; Muntoni, Francesco; Nelson, Leslie L; Rahbek, Jes; Quijano-Roy, Susana; Sewry, Caroline; Storhaug, Kari; Simonds, Anita; Tseng, Brian; Vajsar, Jiri; Vianello, Andrea; Zeller, Reinhard

    2010-12-01

    Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.

  8. Clinical approach to the diagnosis of congenital myopathies.

    PubMed

    North, Kathryn N

    2011-12-01

    In this issue of Seminars in Pediatric Neurology, each chapter will focus on the features and management of individual congenital myopathies. This introductory chapter will provide an overview of the clinical features that alert the clinician to the likely diagnosis of a congenital myopathy, and specific features on history and examination that are characteristic of a specific genetic subtype. Most congenital myopathies share a common pattern of clinical features, which makes it difficult to predict the genetic cause in a patient by clinical assessment alone. Although no single feature is specific for the congenital myopathies, the presence of this common pattern highlights patients in whom a muscle biopsy is likely to provide important diagnostic information. The diagnosis of a specific congenital myopathy should only be made when the defining morphologic feature is the predominant pathologic change, other possible causes have been excluded, and the clinical course is nonprogressive or only slowly progressive.

  9. Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

    PubMed Central

    Wang, Ching H.; Bonnemann, Carsten G.; Rutkowski, Anne; Sejersen, Thomas; Bellini, Jonathan; Battista, Vanessa; Florence, Julaine M.; Schara, Ulrike; Schuler, Pamela M.; Wahbi, Karim; Aloysius, Annie; Bash, Robert O.; Béroud, Christophe; Bertini, Enrico; Bushby, Kate; Cohn, Ronald D.; Connolly, Anne M.; Deconinck, Nicolas; Desguerre, Isabelle; Eagle, Michelle; Estournet-Mathiaud, Brigitte; Ferreiro, Ana; Fujak, Albert; Goemans, Nathalie; Iannaccone, Susan T.; Jouinot, Patricia; Main, Marion; Melacini, Paola; Mueller-Felber, Wolfgang; Muntoni, Francesco; Nelson, Leslie L.; Rahbek, Jes; Quijano-Roy, Susana; Sewry, Caroline; Storhaug, Kari; Simonds, Anita; Tseng, Brian; Vajsar, Jiri; Vianello, Andrea; Zeller, Reinhard

    2016-01-01

    Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee. PMID:21078917

  10. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    PubMed

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

  11. [Congenital heart defects in adulthood : Supraventricular tachycardia].

    PubMed

    Hebe, J

    2016-06-01

    Supraventricular tachycardia (SVT) based on congenital substrates, such as accessory pathways or dual atrioventricular nodal properties, occur with an increased probability linked to specific congenital heart defects (CHDs). In the literature, the association of Ebstein's anomaly with accessory pathways and with Mahaim fibers is most prominent. Compared with patients with otherwise normal hearts, the clinical relevance of SVT is typically more severe and therefore antiarrhythmia treatment is a necessity in many cases. Diagnostics, pharmaceutical treatment, and interventional therapy of SVT in patients with CHD are often demanding owing to anatomical, hemodynamic, and electro-anatomical peculiarities. The use of antiarrhythmic medication is often limited because of intolerable side effects and a lack of reliability in suppressing arrhythmia relapses in the long term. Within the last 15-20 years catheter ablation has thus become established as the first-choice treatment for SVT, even in patients with CHD. However, rates of success, recurrence, and risks are still inferior to those observed in patients with a normally functioning heart owing to the co-existence of vascular and cardiac anomalies, surgically created alterations, an unusual electro-anatomy, and lower tolerance to hemodynamic changes. Successful treatment in patients with CHDs and SVT requires a deep understanding and knowledge of all the disciplines discussed above and should only be practiced in dedicated centers, as patient numbers are small and therefore experience is limited.

  12. Genetic diagnosis for congenital hemolytic anemia.

    PubMed

    Ohga, Shouichi

    Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of β-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.

  13. 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

  14. Congenital subtalar dislocation--a case report.

    PubMed

    Saini, Raghav; Dhillon, M S; Gill, S S

    2009-09-01

    Congenital dislocation of the subtalar joint is one of the rarest forms of presentation of a calcaneo-valgus foot. We report the second case of this type published; an 18-month female child aged was seen with calcaneo-valgus deformity of left foot since birth. She was walking over the medial malleolus and medial border of foot. Radiographs and 3D CT scan of the left foot confirmed the diagnosis of a congenital subtalar dislocation. Surgical correction was achieved through a posterolateral incision, and the reduced joint was fixed with a k-wires for 6 weeks; the foot was immobilized in below knee cast for another 6 weeks, and an ankle foot orthosis was used for another 3 years. At 3 years post-surgical follow up, the child has a plantigrade foot with no functional impairment. Follow up radiographs and 3D CT scan confirmed the maintenance of well aligned talo-calcaneal joint. This type of dislocation should be considered in the differential diagnosis of calcaneo-valgus foot; a clear understanding of the pathology, a precise operative reduction, and long-term use of orthosis results in a favourable outcome.

  15. Italian Registry of Congenital Bleeding Disorders

    PubMed Central

    Giampaolo, Adele; Abbonizio, Francesca; Arcieri, Romano; Hassan, Hamisa Jane

    2017-01-01

    In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people identified with bleeding disorders has increased over the years, with the number rising from approx. 7000 in 2000 to over 11,000 in 2015. The NRCC includes 4020 patients with hemophilia A and 859 patients with hemophilia B. The prevalence of the rare type 3 vWD is 0.20/100,000 inhabitants. Less common congenital bleeding disorders include the following deficiencies: Factor I (fibrinogen), Factor II (prothrombin), Factor V, Factor VII, Factor X, Factor XI and Factor XIII, which affect 1953 patients. Hepatitis C Virus (HCV) infection affects 1561 patients, more than 200 of whom have two infections (HCV + HIV). Estimated hemophilia-related drug consumption in 2015 was approx. 550 million IU of FVIII for hemophilia A patients and approx. 70 million IU of FIX for hemophilia B patients. The NRCC, with its bleeding disorder data set, is a tool that can provide answers to fundamental questions in public health, monitoring care provision and drug treatment, as well as facilitating clinical and epidemiological research. PMID:28335488

  16. Congenital Ulnar Drift in a Surgeon

    PubMed Central

    McKee, Desirae; Eliasson, Shannon; Griswold, John

    2015-01-01

    Windblown hand is a term used in many instances to describe ulnar deviations of the fingers with or without other malformations. In 1994 Wood reviewed all of the descriptions of cases of windblown hand and pointed out how many variants of congenital ulnar drift there are, suggesting that the many variations seen may all belong to a larger type of arthrogryposis. While the most common cause of ulnar deviation of the fingers is rheumatoid arthritis, it can also be caused by other conditions such as windblown hand or Jaccoud's arthropathy. While most hand surgeons are familiar with presentations of congenital ulnar drift, few of them are knowledgeable about Jaccoud's arthropathy as this is usually discussed within medical communities such as Rheumatology. We present a case of a surgeon who has had noticeable ulnar deviation of the digits at the level of the metacarpophalangeal joint since his early 20s. We propose that the current case is a demonstration of a type of windblown hand that has some hereditary component but is not immediately obvious at birth and presents physically more like Jaccoud's arthropathy than traditional windblown hand. PMID:26167318

  17. Fellow Eye in Unilateral Primary Congenital Glaucoma

    PubMed Central

    2017-01-01

    ABSTRACT Aim This is a report of the incidence of bilateral cases in a cohort of primary congenital glaucoma (PCG) cases and a study of the biometric characteristics of the fellow normal eyes in unilateral cases. Materials and methods The charts of 134 PCG children were reviewed, of which 78 cases (58.2%) were found to have bilateral disease. The remaining 56 patients (41.8%) with unilateral disease had their fellow normal eyes compared with an age-matched cohort of ophthalmologically free children. Results There were no differences between the normal fellow eyes of PCG cases and the control eyes in the corneal diameter and central corneal thickness (CCT), whereas the normal fellow eyes of PCG cases had higher intraocular pressure (IOP) and cup/disc (C/D) ratios. Conclusion The fellow eyes of apparently unilateral PCG cases are not typically normal anatomically like other children unaffected by PCG. Clinical significance A very high index of suspicion has to be kept for PCG cases that present apparently unilaterally, and meticulous prolonged follow-up is mandatory. How to cite this article Bayoumi NHL. Fellow Eye in Unilateral Primary Congenital Glaucoma. J Curr Glaucoma Pract 2017;11(1):28-30. PMID:28138215

  18. Congenital hand anomalies in Upper Egypt

    PubMed Central

    Abulezz, Tarek; Talaat, Mohamed; Elsani, Asem; Allam, Karam

    2016-01-01

    Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. Patients and Methods: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. Results: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered. The mean age of presentation was 6 years and female to male ratio was 1.46:1. Hand anomalies were either isolated, associated with other anomalies or part of a syndrome. Conclusion: Incidence of congenital hand anomalies in Upper Egypt is difficult to be estimated due to social and cultural concepts, lack of education, poor registration and deficient medical survey. Management of hand anomalies should be individualised, carefully planned and started as early as possible to achieve the best outcome. PMID:27833283

  19. Evaluation of Adults With Congenital Heart Disease.

    PubMed

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD.

  20. Auditory Spatial Recalibration in Congenital Blind Individuals

    PubMed Central

    Finocchietti, Sara; Cappagli, Giulia; Gori, Monica

    2017-01-01

    Blind individuals show impairments for auditory spatial skills that require complex spatial representation of the environment. We suggest that this is partially due to the egocentric frame of reference used by blind individuals. Here we investigate the possibility of reducing the mentioned auditory spatial impairments with an audio-motor training. Our hypothesis is that the association between a motor command and the corresponding movement's sensory feedback can provide an allocentric frame of reference and consequently help blind individuals in understanding complex spatial relationships. Subjects were required to localize the end point of a moving sound before and after either 2-min of audio-motor training or a complete rest. During the training, subjects were asked to move their hand, and consequently the sound source, to freely explore the space around the setup and the body. Both congenital blind (N = 20) and blindfolded healthy controls (N = 28) participated in the study. Results suggest that the audio-motor training was effective in improving space perception of blind individuals. The improvement was not observed in those subjects that did not perform the training. This study demonstrates that it is possible to recalibrate the auditory spatial representation in congenital blind individuals with a short audio-motor training and provides new insights for rehabilitation protocols in blind people. PMID:28261053