[The current state of Niemann-Pick disease: evaluation of six cases]

An Esp Pediatr. 1990 Feb;32(2):143-8.
[Article in Spanish]

Abstract

Six pediatric patients with Niemann-Pick disease are reported. They have been studied at Hepatology Unit HI "La Paz" (Madrid) in the period of time between 1975-1988. They are one case of type A, one case of type B and four cases of type C. This group of pediatric patients serve us to make a revision of the disease attending to clinical and biochemical classification aspects, diagnosis and treatment. We insist on two aspects: 1) greater importance of enzymatic diagnose for the "Niemann-Pick complex", in view of the overlapping of clinical symptoms, 2) bone-marrow transplantation as therapeutic alternative and its indications.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Bone Marrow Examination
  • Bone Marrow Transplantation
  • Child
  • Clinical Enzyme Tests
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Liver / pathology
  • Male
  • Niemann-Pick Diseases / classification
  • Niemann-Pick Diseases / diagnosis*
  • Niemann-Pick Diseases / enzymology
  • Niemann-Pick Diseases / surgery