Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant

J Inherit Metab Dis. 2003;26(8):775-85. doi: 10.1023/B:BOLI.0000009950.81514.c8.


Allogenic bone marrow transplantation (BMT) was carried out on a 3-year-old white caucasian girl with Niemann-Pick disease (NPD) type B. The donor was her unaffected brother. The patient was neurologically normal at the time of transplantation. Engraftment was based on cytogenetic studies and increased leukocyte acid sphingomyelinase (ASM) activity. However, liver biopsies taken up to 33 months post transplantation showed only a moderate reduction in stored sphingomyelin and no significant increase in ASM activity. The post-transplantation period was complicated by severe graft-versus-host disease and a respiratory arrest. By 6 years of age, neurological involvement was observed, including bilateral cherry red spots. The proband is now severely mentally and physically disabled. Liver cirrhosis has continued to progress despite the BMT, and haematemesis due to portal hypertension occurred at 17 years of age. However, pulmonary infiltration regressed after BMT and there has been no clinical evidence of pulmonary insufficiency.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Bone Marrow Transplantation*
  • Female
  • Follow-Up Studies
  • Graft vs Host Disease / etiology
  • Growth
  • Humans
  • Mutation
  • Niemann-Pick Diseases / complications
  • Niemann-Pick Diseases / physiopathology
  • Niemann-Pick Diseases / therapy*
  • Transplantation, Homologous