Insulin Resistance in a Boy with Congenital Generalized Lipodystrophy

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Congenital generalized lipodystrophy.

Clinical features of congenital generalized lipodystrophy, a rare disorder, first described by Zeigler include loss of subcutaneous fat, hepatomegaly, increased bone growth, hyperlipaemia and, later, diabetes. The inheritance is probably autosomal recessive. Generalized lipodystrophy may involve the diencephalon. A probable defect in the hypothalamus may lead to increased levels of hypothalamic...

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[Congenital generalized lipodystrophy].

OBJECTIVE To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included mu...

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Congenital Generalized Lipodystrophy in a Youth Presented with Sclerotic and Lytic Bone Lesions; a Family with AGPAT2 Mutation

BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...

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a case with lipodystrophy, acanthosis nigricans and insulin resistance

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 ...

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Congenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder

Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1988

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198812000-00003