Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360

A 7-year-old and 1-month-old child was referred to a doctor because of "discovery of abnormal liver function for 4 years". Physical examination revealed hepatosplenomegaly and histopathological findings were hepatic steatosis and hepatic fibrosis. Genetic testing revealed compound heterozygous mutations in the LIPA gene: c.860G>A (p.G287E) and c.796G>T (p.G266*), which were derived from the father and mother, respectively, further improving the activity of lysosomal acid lipase The measurement showed a significant decrease, and a diagnosis of delayed cholesteryl ester storage disease caused by a mutation in the LIPA gene was made. The child was given symptomatic and supportive treatment to protect liver and lower enzymes, and there was no manifestation of liver failure during follow-up. .