Congenital generalized lipodystrophy in a 4-month-old infant.
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.
Lee
I H
IH
Department of Pediatrics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei, Taiwan.
Chen
H L
HL
Jeng
Y M
YM
Cheng
M T
MT
Tsao
L Y
LY
Chang
M H
MH
D005260:Female; D006801:Humans; D007223:Infant; D008060:Lipodystrophy / Q000150:complications / Q000151:congenital* / Q000473:pathology; D008099:Liver / Q000473:pathology; D014280:Triglycerides / Q000097:blood
D014280:Triglycerides