Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.
In an attempt to elucidate prognostic factors, the data on 12 boys who underwent haematopoietic stem cell transplantation (HSCT) for cerebral X-linked adrenoleukodystrophy were evaluated. Two further patients received HSCT but died from transplantation-related complications. The data included neurological examination, neuropsychological testing and magnetic resonance imaging (MRI). Follow-up after HSCT was up to 5.5 years. Six patients showed a moderate to severe clinical deterioration after HSCT including two who died within 6 months. In this group, a MRI severity score of 10 or higher before HSCT was associated with severe impairment and a score of more than 12 was followed by rapid deterioration and death after HSCT. The presence of neurological symptoms before HSCT also affected prognosis. Six patients showed no deterioration in neurological or neuropsychological assessment after HSCT.


CONCLUSIONS
our data confirm that haematopoietic stem cell transplantation can stop the progress of demyelination when performed at a critical early stage of the disease. The prognosis in an individual patient for the clinical course after stem cell transplantation can in general be given based on the status before transplantation, although individual patients may show an unexpected course.
Baumann
Matthias
M
Department of Paediatrics and Neuropaediatrics, Georg-August University Göttingen, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.
Korenke
G Christoph
GC
Weddige-Diedrichs
Almuth
A
Wilichowski
Ekkehard
E
Hunneman
Donald H
DH
Wilken
Bernd
B
Brockmann
Knut
K
Klingebiel
Thomas
T
Niethammer
Dietrich
D
Kühl
Jörn
J
Ebell
Wolfram
W
Hanefeld
Folker
F
D000326:Adrenoleukodystrophy / Q000473:pathology / Q000628:therapy*; D005260:Female; D005500:Follow-Up Studies; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D016896:Treatment Outcome