一名埃及儿童患1型贝拉尔迪内利-塞普综合征。
Berardinelli-Seip syndrome type 1 in an Egyptian child.
作者信息
Metwalley Kotb Abbass, Farghaly Hekma Saad
机构信息
Department of Pediatrics, Pediatric Endocrinology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt.
出版信息
Indian J Hum Genet. 2014 Jan;20(1):75-8. doi: 10.4103/0971-6866.132762.
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.
1型贝拉尔迪内利-塞普综合征或1型贝拉尔迪内利-塞普先天性脂肪营养不良（BSCL1）是一种非常罕见的遗传性疾病，其特征为脂肪萎缩、高甘油三酯血症、肝肿大和肢端肥大样特征。其在埃及的患病率尚不清楚。在此，我们报告一例12岁埃及男孩，具有BSCL1的临床、代谢和分子遗传学表现，包括显性糖尿病。
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