Neonatal Gaucher disease presenting as persistent thrombocytopenia

J Perinatol. 2005 May;25(5):356-8. doi: 10.1038/sj.jp.7211262.

Abstract

Mutations in the beta-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symptoms. We describe a neonate homozygous for the D409 H mutation with thrombocytopenia, splenomegaly and cholestasis at birth as the major features.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cesarean Section
  • Diagnosis, Differential
  • Drug Therapy, Combination
  • Female
  • Follow-Up Studies
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / drug therapy*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Risk Assessment
  • Severity of Illness Index
  • Thrombocytopenia / diagnosis*
  • Treatment Outcome
  • Ursodeoxycholic Acid / therapeutic use
  • Vitamins / therapeutic use

Substances

  • Vitamins
  • Ursodeoxycholic Acid