a case with lipodystrophy, acanthosis nigricans and insulin resistance
نویسندگان
چکیده
conclusions metabolic abnormalities in bscl may prove fatal necessitating optimal therapeutic and preventive measures. patients are advised low fat diet with enhanced physical activities. other treatments include metformin, n-3 polyunsaturated fatty acids and leptin replacement for correction of metabolic complications. we report this case of bscl in view of its rarity. case presentation an 18 year-old-boy with normal iq, presented with dark rugosity of skin since early childhood. he had voracious appetite. clinical examination revealed an and generalized loss of subcutaneous fat. systemic examination was normal. based on these clinical features, differential diagnosis of bscl, leprechaunism and rabson-mendenhall syndromes (rms) were considered. he had hyperglycemia (rbs-321 mg/dl), hypertriglyceridemia (274 mg/dl), low hdl (24 mg/dl), and hyperinsulinemia (48.54 μiu/ml). abdominal ultrasonography showed altered hepatic echogenicity, splenomegaly, and enlarged kidneys. echocardiography was normal. the rabson-mendenhall syndrome was ruled out by the presence of normal growth and absence of ketoacidosis and hypertriglyceridemia. diagnosis of bscl was made based on three major criteria, lipoatrophy, and hypertriglyceridemia and insulin resistance. the patient was started on metformin (500 mg bd), and given dietary advice, with significant improvement of an and blood glucose level. introduction there are many syndromes presenting with acanthosis nigricans (an) and insulin resistance. berardinelli-seip congenital lipodystrophy (bscl) is one such rare (1 in 10 million) ar disorder with additional features like generalized cutaneous and visceral lipoatrophy, hypertriglyceridemia, hepatosplenomegaly, cardiomegaly, and acromegaloid physique.
منابع مشابه
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عنوان ژورنال:
journal of skin and stem cellجلد ۲، شماره ۴، صفحات ۰-۰
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