Berardinelli-Seip syndrome type 1 in an Egyptian child

Kotb Abbass Metwalley, Hekma Saad FarghalyIndian Journal of Human Genetics 2014 20(1):75-78Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus.
Source: Indian Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Source Type: research