Unilateral congenital lymphedema with intestinal lymphangiectasia, elevated liver transaminases, and hypopigmentation
نویسندگان
چکیده
منابع مشابه
[Congenital intestinal lymphangiectasia].
BACKGROUND Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. CASE REPORT A 19-year o...
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Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...
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History A three year old boy presented with tetanus who additionally suffered from nonbloody diarrhea. Physical examination showed bilateral edema of the lower limbs. Laboratory data showed iron deficiency anemia, hypoalbuminemia, hypocalcaemia and hypogammaglobulinemia. Stool culture was negative for bacteria however fat droplets were detected in the patient’s stool. Endoscopic examination rev...
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A 2 year and 11 month old boy presented in December 1994 with a history of recurrent episodes of generalized swelling of the body and loose stools for two years. He had been treated with plasma transfusion and antituberculous treatment in the past. He was the only child to his non-consanguineous parents. At birth, he was noticed to have facial asymmetry. He was breastfed for one year and at adm...
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Portal vein aneurisym (PVA), peliosis hepatis (PH) and intestinal lymphangiectasia (IL) all are very uncommon entities. Herein, we presented a unique patient with these three rare entities who was admitted to our hospital because of portal hypertensive ascites rich in protein and lymphocyte. PVA was extrahepatic and associated with coronary vein aneurysm. Peliosis hepatis was of microscopic for...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2000
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200001000-00089