[Congenital generalized lipodystrophy: a case report with neurological involvement]

Arch Pediatr. 2009 Jan;16(1):27-31. doi: 10.1016/j.arcped.2008.10.005. Epub 2008 Nov 20.
[Article in French]

Abstract

Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by near complete absence of adipose tissue from birth. At least 2 genes located in 9q34 (AGPAT2) and 11q13 (Seipin) are implicated in type 1 and 2, respectively, and result in insulin resistance. We report here a novel case of CGL type 1 resulting from a novel homozygote mutation in the AGPAT2 gene. The clinical picture included pseudoathletic muscular hypertrophy, hypertrophic cardiomyopathy, enlarged liver, hypermetabolism rate, and hyperinsulinemia in a 1-year-old child from Libya. Peripheral hypertonia and reflex excitability revealed signal abnormalities in white matter on magnetic resonance imagery, which has not been described previously in the literature.

Publication types

  • Case Reports
  • Comparative Study
  • English Abstract

MeSH terms

  • Adolescent
  • Age Factors
  • Brain Diseases / diagnosis
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Genotype
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Insulin Resistance
  • Lipodystrophy, Congenital Generalized* / diagnosis
  • Lipodystrophy, Congenital Generalized* / genetics
  • Lipodystrophy, Congenital Generalized* / physiopathology
  • Lipodystrophy, Congenital Generalized* / therapy
  • Magnetic Resonance Imaging
  • Mutation
  • Phenotype
  • Time Factors
  • Treatment Outcome