Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.
A 29-year-old female patient with juvenile metachromatic leukodystrophy diagnosed at age 14 years received a bone marrow transplant at age 16 years. A report was published 6 years after bone marrow transplantation concluding that the disease had slowly progressed in the 2 years following bone marrow transplantation. We now report on a further 7-year follow-up, typified by a steady state of spastic paraplegia and mild dementia. Neurophysiological, neuroradiological, and psychological status also remained stable. In the patient's leukocytes, the activity of arylsulfatase A, the enzyme deficient in untreated metachromatic leukodystrophy, was within the normal range whereas urinary sulfatides remained elevated. Data on the natural course of juvenile metachromatic leukodystrophy are rare, so in the present case it is difficult to establish whether the rather favorable course can be attributed with certainty to bone marrow transplantation. The long-term stabilization in this patient, however, suggested that bone marrow transplantation may halt the progression of juvenile metachromatic leukodystrophy.
Görg
Maria
M
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Wilck
Wanja
W
Granitzny
Barbara
B
Suerken
Anne
A
Lukacs
Zoltan
Z
Ding
Xiaoqi
X
Schulte-Markwort
Michael
M
Kohlschütter
Alfried
A
D000293:Adolescent; D000328:Adult; D016026:Bone Marrow Transplantation / Q000706:statistics & numerical data* / Q000639:trends; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D003704:Dementia / Q000209:etiology / Q000503:physiopathology; D002658:Developmental Disabilities / Q000209:etiology / Q000503:physiopathology; D018450:Disease Progression; D005072:Evoked Potentials, Auditory / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000503:physiopathology; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism / Q000503:physiopathology* / Q000628:therapy*; D009431:Neural Conduction / Q000502:physiology; D010264:Paraplegia / Q000209:etiology / Q000503:physiopathology; D010525:Peripheral Nerves / Q000378:metabolism / Q000503:physiopathology; D013995:Time; D016896:Treatment Outcome
D002553:Cerebroside-Sulfatase