HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation.

Abstract
Bone marrow transplantation (BMT) has been used for a wide variety of lysosomal storage diseases with encouraging results. We report a 3-year 5-month-old girl with Niemann-Pick type C disease (NPC) who received an allogeneic BMT. The patient presented with repeated lower respiratory tract infections, hepatosplenomegaly, failure to thrive, and developmental delay. Chest computed tomography (CT) revealed diffuse interstitial lung infiltration. Bone marrow and liver biopsies revealed abundant lipid-filled foamy macrophages. Skin fibroblast sphingomyelinase assay revealed partial deficiency. The ability of her skin fibroblasts to esterify cholesterol was very low, and the cells stained brightly for free cholesterol. She received BMT from a healthy HLA-identical male sibling donor at the age of 2 year 6 months. Full engraftment was evidenced by repeated bone marrow sex chromosome studies. Regression of the hepatosplenomegaly, markedly reduced foamy macrophage infiltration in bone marrow, and decreased interstitial lung infiltration was noted 6 months after BMT. Her neurological status, however, deteriorated. Follow-up magnetic resonance image (MRI) revealed progressive, diffuse brain atrophy. We conclude that resolution occurred in the liver, spleen, bone marrow and lung following successful engraftment. Such a response is remarkable since the underlying problem involves a membrane receptor for cholesterol. This positive response might be due to replacement of the monocyte-phagocytic system or it may imply the existence of cross-correction in the NPC membrane receptor defect by BMT approach. Since BMT did not halt the neurological deterioration, it is unlikely to be an adequate treatment for NPC.
AuthorsY S Hsu, W L Hwu, S F Huang, M Y Lu, R L Chen, D T Lin, S S Peng, K H Lin
JournalBone marrow transplantation (Bone Marrow Transplant) Vol. 24 Issue 1 Pg. 103-7 (Jul 1999) ISSN: 0268-3369 [Print] England
PMID10435744 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Immunosuppressive Agents
  • Cyclophosphamide
  • Busulfan
Topics
  • Bone Marrow Transplantation (methods, pathology)
  • Busulfan (therapeutic use)
  • Child, Preschool
  • Cyclophosphamide (therapeutic use)
  • Female
  • Humans
  • Immunosuppressive Agents (therapeutic use)
  • Infant
  • Male
  • Niemann-Pick Diseases (drug therapy, pathology, therapy)
  • Transplantation Conditioning (methods)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: