Congenital generalized lipodystrophy in a 4-month-old infant

J Formos Med Assoc. 2001 Sep;100(9):623-7.

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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant
  • Lipodystrophy / complications
  • Lipodystrophy / congenital*
  • Lipodystrophy / pathology
  • Liver / pathology
  • Triglycerides / blood

Substances

  • Triglycerides