Congenital generalized lipodystrophy in a 4-month-old infant
Journal
Journal of the Formosan Medical Association
Journal Volume
100
Journal Issue
9
Pages
623-627
Date Issued
2001
Author(s)
Abstract
Congenital 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
Other Subjects
fat; 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; Triglycerides
Type
journal article