66日龄婴儿发现多发皮下结节1月余

Multiple subcutaneous nodules for 46 days in an infant aged 66 days

摘要:

患儿，男，66?d，因发现皮下结节46?d，腹胀10?d入院。患儿主要临床表现为全身脂肪组织减少，皮下结节，胰岛素抵抗型糖尿病，高三酰甘油血症，肝脂肪变性，最终确诊为先天性全身性脂肪代谢障碍1型。经改用含中链脂肪酸比例高的配方奶及先后予胰岛素注射、二甲双胍口服后病情好转。基因检测显示AGPAT2基因存在c.646A > T纯合突变，其父母均为该突变的携带者。该病例为国内报道的起病年龄最小、且以多发皮下结节为首发症状的先天性全身性脂肪代谢障碍1型患儿。

Abstract:

A boy, aged 66 days, was admitted to the hospital due to subcutaneous nodules for 46 days and abdominal distension for 10 days. The main clinical manifestations were loss of adipose tissue, subcutaneous nodules, insulin-resistant diabetes, hypertriglyceridemia, and hepatic steatosis. The boy was diagnosed with congenital generalized lipodystrophy type 1 (CGL1). His condition was improved after administration of middle-chain fatty acid formula milk and insulin injection or oral metformin. Gene testing revealed a homozygous mutation, c.646A > T, in the AGPAT2 gene, and both his parents were carriers of this mutation. This case of CGL1 has the youngest age of onset ever reported in China and multiple subcutaneous nodules as the initial symptom.