title: Berardinelli-Seip syndrome type 1 in an Egyptian child.
abstract: Berardinelli-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.
authors: Department of Pediatrics, Pediatric Endocrinology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt.
authors: Kotb Abbass
authors: KA
authors: Metwalley
authors: Department of Pediatrics, Pediatric Endocrinology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt.
authors: Hekma Saad
authors: HS
authors: Farghaly
keywords: Acromegaloid features; Berardinelli-Seip syndrome type 1; diabetes mellitus; hypertriglyceridemia