Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow

Indian Pediatr. 2012 Jun;49(6):490-2. doi: 10.1007/s13312-012-0095-4.

Abstract

Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Cells / pathology*
  • DNA Mutational Analysis
  • Humans
  • Infant
  • Male
  • Mutation
  • Niemann-Pick Disease, Type A / diagnosis*
  • Niemann-Pick Disease, Type A / genetics
  • Niemann-Pick Disease, Type A / pathology
  • Sphingomyelin Phosphodiesterase / genetics

Substances

  • SMPD1 protein, human
  • Sphingomyelin Phosphodiesterase