منابع مشابه
Berardinelli-Seip syndrome in a 6-year-old boy.
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with...
متن کاملA case of Berardinelli-Seip syndrome presenting with cirrhosis.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentatio...
متن کاملA Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کامل25Hydroxy-vitamin D status in patients with berardinelli-seip syndrome (congenital generalized lipodystrophy)
Lia Beatriz de Azevedo Souza Karbage, Ana Paula Dias Rangel Montenegro, Luciana Felipe Férrer Aragão, Izabella Tamira Galdino Farias Vasconcelos, Virgínia Oliveira Fernandes, Annelise Barreto de Carvalho, Clarisse Mourão Melo Ponte, Catarina Brasil D'Alva, Carla Soraya Costa Maia, Synara Cavalcante Lopes, Marivaldo Loyola Aragão, Carla Antoniana Ferreira de Almeida Vieira, Ana Paula Germano Lop...
متن کاملEvaluation of steatohepatitis, body composition and metabolic profile of three patients with Berardinelli-Seip syndrome
Results Patients 1 and 3 were diagnosed late, by the age of 54 and 43 yrs. respectively. While the second patient was diagnosed earlier at 17th and follows 14 yrs. in treatment. All patients have low body fat on DEXA (Figure 1) and moderate steatosis, but only the Patient 2 has no fibrosis. The patients’ metabolic profile after the treatment is exposed at Table 1. All patients are in use, at le...
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2006
ISSN: 0377-1237
DOI: 10.1016/s0377-1237(06)80170-x