Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.
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PMID:Perlman syndrome: four additional cases and review. 1050 86

Compared with the imaging features of typical hepatic hemangiomas, the imaging features of atypical hepatic hemangiomas have not been well studied or well described. Knowledge of the entire spectrum of atypical hepatic hemangiomas is important and can help one avoid most diagnostic errors. A frequent type of atypical hepatic hemangioma is a lesion with an echoic border at ultrasonography. Less frequent types are large, heterogeneous hemangiomas; rapidly filling hemangiomas; calcified hemangiomas; hyalinized hemangiomas; cystic or multilocular hemangiomas; hemangiomas with fluid-fluid levels; and pedunculated hemangiomas. Adjacent abnormalities consist of arterial-portal venous shunt, capsular retraction, and surrounding nodular hyperplasia; hemangiomas can also develop in cases of fatty liver infiltration. Associated lesions include multiple hemangiomas, hemangiomatosis, focal nodular hyperplasia, and angiosarcoma. Types of atypical evolution are hemangiomas enlarging over time and hemangiomas appearing during pregnancy. Complications consist of inflammation, Kasabach-Merritt syndrome, intratumoral hemorrhage, hemoperitoneum, volvulus, and compression of adjacent structures. In some cases, such as large heterogeneous hemangiomas, calcified hemangiomas, pedunculated hemangiomas, or hemangiomas developing in diffuse fatty liver, a specific diagnosis can be established with imaging, especially magnetic resonance imaging. However, in other atypical cases, the diagnosis will remain uncertain at imaging, and these cases will require histopathologic examination.
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PMID:Imaging of atypical hemangiomas of the liver with pathologic correlation. 1071 38

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterised by multiple venous malformations and haemangioma in the skin and visceral organs. The lesion often involves the cutaneous and gastrointestinal tract. Most common visceral organ affected is the GIT. Most predominant region involved in the GIT is small bowel. However, vascular lesions can occur anywhere from oral mucosa to anal canal. GIT bleed is relatively slow, resulting in minor, chronic and occult blood loss. The syndrome in the GIT may also present with severe complications such as rupture, volvulus, intussusceptions and even death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of GIT lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy such as iron supplementation and blood transfusion. Surgical resection, endoscopic sclerosis and laser photocoagulation have been proposed for more significant haemorrhage and severe complications. Here, we present a case of BRBNS in a 13-year-old girl involving the GIT especially the large bowel, presenting with the complaints of bleeding per rectum and iron deficiency anaemia. Initially, endoscopic sclerotherapy was performed, but to no response. Hence, proceeded with surgical resection.
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PMID:Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report. 2997 59

Kaposiform hemangioendothelioma (KHE) is a rare and locally aggressive vascular tumor with histological features resembling Kaposi sarcoma and capillary hemangioma mainly occurring in children and adolescents. Approximately 200 cases have been reported since its original description in 1993, with the vast majority presenting at an early age as raised ill-defined lesions with a red-blue hue mainly involving the skin and soft tissues in the extremities. Cases in adults remain extremely rare. Herein, we describe the case of a 29 year-old man who presented with progressive abdominal pain for 4 months and signs of obstipation found to be consistent with small bowel volvulus. The patient underwent exploratory laparotomy and resection of 55 cm of necrotic small bowel followed by enteroenterostomy and anastomosis. Microscopic examination revealed KHE involving small intestinal mesentery, muscularis propria, and submucosa. His recovery was uneventful and he was discharged after stabilization, opting to manage him expectantly with abdominopelvic imaging and to monitor for development of Kasabach-Merritt phenomenon. To our knowledge, this represents the first reported case of this entity presenting as intestinal obstruction in an adult for which we also present a review of the existing literature and possible treatment options.
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PMID:Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO. 3109 93