PDF(Pubmed)
Abstract：
Congenital generalized lipodystrophy type 2 (CGL2) is a rare autosomal recessive disorder characterized by the near-total absence of adipose tissue, leading to various metabolic complications. We present the case of a one-year-old male who exhibited progressive abdominal distension from six months of age. Physical examination revealed distinctive features including triangular facies, hypertelorism, an emaciated appearance with absent buccal fat, and hepatosplenomegaly. Laboratory investigations showed elevated transaminases and a deranged lipid profile, while imaging confirmed hepatosplenomegaly without systemic anomalies. A liver biopsy indicated macrovesicular steatosis and impending cirrhosis. Genetic testing revealed a homozygous pathogenic variant in the BSCL2 gene (c.604C>T), confirming CGL2. The child is under regular follow-up, with genetic counseling provided to the parents. This case underscores the importance of early recognition, genetic diagnosis, and regular monitoring in managing this rare condition.
摘要：
先天性全身性脂肪营养不良2型（CGL2）是一种罕见的常染色体隐性遗传疾病，其特征是脂肪组织几乎完全缺失，导致各种代谢并发症。我们介绍了一名一岁男性从六个月大开始表现出进行性腹胀的情况。体格检查显示出独特的特征，包括三角相，超端粒,瘦弱的外观，没有口腔脂肪，和肝脾肿大.实验室调查显示转氨酶升高和血脂紊乱，而影像学检查证实肝脾肿大无全身异常。肝活检提示大泡性脂肪变性和即将发生的肝硬化。基因检测揭示了BSCL2基因的纯合致病变异（c.603C>T），确认CGL2。孩子正在接受定期随访，向父母提供遗传咨询。这个案例强调了早期识别的重要性，基因诊断,并定期监测管理这种罕见的情况。
