目的　探讨先天性全身脂肪营养不良症（CGL）的临床及基因特点。方法　回顾分析1例BSCL2基因突变 致CGL患儿的临床资料，并进行文献复习。结果　女性患儿， 2岁9个月，临床表现为全身脂肪组织消失，黑棘皮征，肝 脾大，轻度智力低下；实验室检查示高三酰甘油血症、高胰岛素血症和心肌病变。提取患儿及父母外周血，对AGPAT2、 BSCL2、CAV1和PTRF 4个基因行Sanger测序显示，患儿存在BSCL2基因杂合突变，分别为母源移码突变（c.567-568delGA, p.E189EfsX12）及父源无义突变（c.565G>T,p.E189X），均为致病突变。回顾文献，BSCL2基因突变是亚洲CGL最常见的 病因，BSCL2突变的CGL患儿常见临床表现为全身脂肪组织消失、黑棘皮征和肝脾大，心肌病变和智力低下发生率分别 为40%和30%。结论　BSCL2基因突变引起的CGL主要临床表现为自幼全身脂肪组织消失及代谢紊乱，常伴有心肌病变 和智力低下，对疑似患儿应尽早行基因分析确诊。

　Objective　To explore the clinical and genetic characteristics of congenital generalized lipodystrophy (CGL). Method　The clinical data of one child with CGL caused by BSCL2 gene mutation were analyzed retrospectively and relative literature were reviewed. Results　A 2-year-9-month old girl had clinical manifestations of a lack of subcutaneous fat, acanthosis nigricans, hepatolienomegaly and mild hypophrenia. Laboratory examinations showed hypertriglyceridemia, hyperinsulinemia and cardiomyopathy. The peripheral blood from the child and her parents were collected and 4 genes, AGPAT2, BSCL2, CAV1 and PTRF, were sequenced by Sanger. The results showed a heterozygous mutation of BSCL2 gene from maternal frameshift (c.567568delGA, p.E189EfsX12) and paternal nonsense mutation (c.565G>T,p.E189X) respectively in the child, and both mutations were pathogenic ones. By a literature review, it is known that BSCL2 gene mutation is the most common cause of in Asian. In CGL with BSCL2 gene mutation, the commom clinical manifestations include disappearance of systemic adipose tissue, acathosis nigricans and hepatomegaly, and the incidence of myocardial infarction and mental retardation were 40% and 30% respectively. Conclusion　The main clinical manifestations of CGL caused by BSCL2 gene mutation were loss of systemic adipose tissue and metabolic disorder at an early age. It was often accompanied by myocardial lesions and mental retardation. Gene diagnosis analysis should be made as earliest possible time for the children suspected of this disease.