Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up

Indian Pediatr. 2019 Oct 15;56(10):877-878.

Abstract

Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications. Here, we describe a 10-year-old girl with genetically proven Berardinelli Seip congenital generalized lipodystrophy type 2, diagnosed at 10 months of age. She developed comorbidities like proteinuria, hypertension, diabetes mellitus, and liver fibrosis.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Diabetes Mellitus / physiopathology
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Hypertension / complications
  • Hypertension / diagnosis*
  • Hypertension / drug therapy
  • India
  • Insulin Resistance
  • Lipodystrophy, Congenital Generalized / diagnosis*
  • Lipodystrophy, Congenital Generalized / genetics
  • Lipodystrophy, Congenital Generalized / therapy*
  • Liver Cirrhosis / complications
  • Liver Cirrhosis / physiopathology
  • Rare Diseases
  • Severity of Illness Index