Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy

JAMA Neurol. 2013 Jun;70(6):779-82. doi: 10.1001/jamaneurol.2013.629.


Importance: We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT).

Observations: We conducted serial magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) as standard follow-up after HSCT with cord blood in 1 patient with juvenile metachromatic leukodystrophy diagnosed before frank degenerative symptoms developed. We measured MRI and 1H-MRS changes. The white matter changes first increased after HSCT, then decreased in relation to the pre-HSCT MRI and 1H-MRS.

Conclusions and relevance: Hematopoietic stem cell transplant, if performed early in metachromatic leukodystrophy, can not only stabilize but even improve cerebral white matter abnormalities. Our findings suggest a biological effect of HSCT.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / diagnosis*
  • Leukodystrophy, Metachromatic / surgery*
  • Nerve Fibers, Myelinated / pathology*
  • Neuroimaging* / trends
  • Stem Cell Transplantation* / trends