Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature

Bone Marrow Transplant. 2011 Aug;46(8):1071-6. doi: 10.1038/bmt.2010.252. Epub 2010 Nov 1.


Five patients with adult-onset metachromatic leukodystrophy (MLD) underwent allo-SCT. Conditioning was reduced in intensity and grafts were obtained from voluntary unrelated donors. All but one graft were depleted of T-lymphocytes. Patient age at transplantation varied from 18 to 29 (median, 27) years. Two patients rejected their graft and MLD progressed. The recipient of the unmanipulated graft converted to complete donor chimerism with normalization of arylsulphatase A (ARSA) levels. Despite ARSA normalization, he deteriorated. Another patient was a mixed chimera. Following escalated doses of donor lymphocyte infusions he converted to complete donor chimerism. His levels of ARSA correlated positively with the percentage of donor cells and MLD was not progressive. The fifth patient died after 35 days from complications associated with GVHD. We conclude that results of allo-SCT in symptomatic MLD patients are poor. However, allo-SCT may stop progression of MLD in selected patients.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Leukodystrophy, Metachromatic / surgery*
  • Male
  • Young Adult