Potic Ana, Rovelli Attilio M, Uziel Graziella, Kozic Dusko, Mladenovic Jelena, Milic-Rasic Vedrana
Clinic for Child Neurology and Psychiatry, Department of Child Neurology, Medical Faculty University of Belgrade, Belgrade, Serbia.
J Child Neurol. 2010 Dec;25(12):1542-7. doi: 10.1177/0883073810375117. Epub 2010 Jul 22.
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.
我们报告了一名患有儿童期X连锁肾上腺脑白质营养不良男孩的临床病程、脑磁共振成像（MRI）及质子磁共振波谱结果。该男孩在传统造血细胞移植实现完全供体来源植入后5年多，其神经系统疾病仍在进展。所描述的临床和影像学发现涵盖了儿童期X连锁肾上腺脑白质营养不良的所有阶段：从移植前临床无症状阶段直至当前。这不仅是塞尔维亚，也是整个东南欧地区首例接受造血细胞移植治疗儿童期X连锁肾上腺脑白质营养不良的患者。塞尔维亚唯一一例移植肾上腺脑白质营养不良患者所呈现的病程及移植后结局，增强了对更好地进行X连锁肾上腺脑白质营养不良筛查、更早检测疾病的强烈诉求，并有助于完善未来肾上腺脑白质营养不良治疗中造血细胞移植资格标准这一广为人知的预期。
