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.