Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation.
At 8 months of age, before clinical neurologic deterioration, the younger of two sisters with metachromatic leukodystrophy received a transplant of bone marrow from her haploidentical, heterozygote mother. Compared with the course in the older, affected, untreated sibling, the onset of neurologic regression was delayed 1 year and progressed at a slower rate.
Pridjian
G
G
Human Genetics Program, Tulane University Medical School, New Orelans, Louisiana.
Humbert
J
J
Willis
J
J
Shapira
E
E
D016026:Bone Marrow Transplantation; D001921:Brain / Q000473:pathology; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D012074:Remission Induction; D013997:Time Factors; D016896:Treatment Outcome