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

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.