Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.
Three siblings with metachromatic leukodystrophy underwent umbilical cord blood transplantation at different stages of disease. Neuroimaging, nerve conduction studies, neurological examinations, and neuropsychological examinations were used to measure outcome over 2 years. After transplant, the oldest sibling experienced disease progression. His two siblings had near or total resolution of signal abnormalities on neuroimaging. Their neuropsychological testing remained stable, and nerve conduction studies have shown improvement. These results indicate pretransplantation neurological examinations may be the most significant predictor of outcome after transplant. To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation.
Pierson
Tyler Mark
TM
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 20892-3705, USA. piersonty@ninds.nih.gov
Bonnemann
Carsten G
CG
Finkel
Richard S
RS
Bunin
Nancy
N
Tennekoon
Gihan I
GI
D000367:Age Factors; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology / Q000517:prevention & control; D036101:Cord Blood Stem Cell Transplantation / Q000379:methods*; D018450:Disease Progression; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D017063:Outcome Assessment, Health Care / Q000379:methods; D011237:Predictive Value of Tests; D011379:Prognosis; D016896:Treatment Outcome