患有X连锁肾上腺脑白质营养不良（X-ALD）的儿童的MRI脱髓鞘模式及临床病程

MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD).

作者信息

Nowak Johannes, Löbel Ulrike, Wölfl Matthias, Schlegel Paul-Gerhardt, Warmuth-Metz Monika

机构信息

Departments of Radiology and Neuroradiology, University Hospital of Würzburg, Würzburg, Germany.

Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

出版信息

Acta Radiol Open. 2015 Apr 1;4(4):2047981615573655. doi: 10.1177/2047981615573655. eCollection 2015 Apr.

DOI:10.1177/2047981615573655

PMID:25848550

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4385045/

Abstract

The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. In the individual case, the disease course still remains unpredictable. Research findings suggest an important role of brain magnetic resonance imaging (MRI) lesion patterns as prognostic markers for X-ALD. Hence, familiarity with imaging features of childhood X-ALD in combination with clinical manifestation is required in order to stratify affected patients for therapy. We report on MRI findings and clinical course of cerebral X-ALD in a young boy with a rare subtype of white matter demyelination.

摘要

患有X连锁肾上腺脑白质营养不良（X-ALD）的男孩的临床症状范围从孤立的肾上腺皮质功能不全和缓慢进展的脊髓病到严重的脑脱髓鞘。在个别病例中，疾病进程仍然不可预测。研究结果表明，脑磁共振成像（MRI）病变模式作为X-ALD的预后标志物具有重要作用。因此，为了对受影响的患者进行治疗分层，需要熟悉儿童X-ALD的影像学特征并结合临床表现。我们报告了一名患有罕见白质脱髓鞘亚型的小男孩脑X-ALD的MRI表现和临床病程。