Lee I.-H.HUEY-LING CHENYUNG-MING JENGCheng M.-T.Tsao L.-Y.MEI-HWEI CHANG2021-01-042021-01-0420010929-6646https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034751540&partnerID=40&md5=ca8d58af3b371102ffbebde705a22bd0https://scholars.lib.ntu.edu.tw/handle/123456789/537136Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hypertrichosis, and marked hypertriglyceridemia were also noted. Liver histology revealed fatty change and portal-to-portal bridging fibrosis. Clinical features, serum biochemistry, and liver histology were compatible with the diagnosis of CGL. She was given a special diet characterized by calorie restriction and partial substitution of long-chain triglycerides with medium-chain triglycerides. The serum triglyceride concentration subsequently decreased. This present case suggests that extensive fatty infiltration and subsequent cirrhosis of the liver may be the earliest complication of CGL.[SDGs]SDG3fat; long chain triacylglycerol; medium chain triacylglycerol; triacylglycerol; acanthosis nigricans; appetite; article; body weight; caloric restriction; case report; clinical feature; fatty liver; female; hepatosplenomegaly; histopathology; human; hyperhidrosis; hypermetabolism; hypertrichosis; hypertriglyceridemia; infant; lipid diet; lipodystrophy; liver cirrhosis; liver fibrosis; muscle hypertrophy; subcutaneous fat; Taiwan; Female; Humans; Infant; Lipodystrophy; Liver; Triglyceridesjournal article116952792-s2.0-0034751540