A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program, Department of Pediatrics and Division of Pediatric Neurology, University of Minnesota, MN and other centers. The diagnosis was confirmed by enzyme analysis at eight months of age after an older sister had been found to have the disease. Serial MRI of the head obtained before and after bone marrow transplantation showed no further deterioration of white matter. Sural nerve specimens obtained by biopsy before and two years after transplantation showed less accumulation of lipid in the macrophages on electron microscopy. Sulfatide levels in the CSF were within normal limits at seven and ten years of age. Asymptomatic infants, children and young adolescents who are found to have the disease after it has been diagnosed in an older sibling should be considered for bone marrow transplantation. [1]

COMMENT. Dr. John Menkes gives an excellent overview of the leukodystrophies in an editorial in this issue [2]. Metachromatic leukodystrophy and adrenoleukodystrophy may be amenable to new experimental therapies. No treatment is available for globoid-cell, Canavan, Pelizaeus-Merzbacher, and Alexander varieties of leukodystrophy.