Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe.
We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic resonance spectroscopy findings in a boy with childhood cerebral X-linked adrenoleukodystrophy whose neurological disease keeps progressing more than 5 years after conventional hematopoietic cell transplantation with full donor-derived engraftment accomplishment. The described clinical and radiological findings follow all phases of this childhood cerebral X-linked adrenoleukodystrophy: from the clinically asymptomatic pretransplant stage to the present day. This is the first patient not only from Serbia but from the entire area of Southeastern Europe who underwent hematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy. The presented disease course and the posttransplant outcome in the only case of transplanted adrenoleukodystrophy from Serbia enhances the overwhelming appeal for better X-linked adrenoleukodystrophy screening, earlier disease detection, and contributes to the well-known anticipation of the refined hematopoietic cell transplantation eligibility criteria in future adrenoleukodystrophy treatment.
Potic
Ana
A
Clinic for Child Neurology and Psychiatry, Department of Child Neurology, Medical Faculty University of Belgrade, Belgrade, Serbia. a.potic@yahoo.com
Rovelli
Attilio M
AM
Uziel
Graziella
G
Kozic
Dusko
D
Mladenovic
Jelena
J
Milic-Rasic
Vedrana
V
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000453:epidemiology / Q000601:surgery; D017668:Age of Onset; D002648:Child; D005060:Europe / Q000453:epidemiology; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006801:Humans; D008297:Male; D055771:Serbia / Q000453:epidemiology