1Antalya Ataturk State Hospital, Department of Radiology, Antalya, Turkey; 2University of Texas Southwestern Medical Center at Dallas, Department of Radiology, Dallas, Texas, USA; 3Antalya Ataturk Training and Research Hospital, Department of Radiology, Antalya, Turkey; 4Akdeniz University, Faculty of Medicine, Department of Radiology, Antalya, Turkey; 5Akdeniz University, Faculty of Medicine, Department of Child Neurology, Antalya, Turkey.
Acta Clin Croat. 2021 Jun;60(2):326-328. doi: 10.20471/acc.2021.60.02.23.
Adrenoleukodystrophy is a rare X-linked hereditary disease that results in accumulation of very-long-chain fatty acids in all body tissues, thus causing demyelination of the white matter. Magnetic resonance imaging (MRI) is a reliable radiological modality to demonstrate the extension of brain lesions and severity of the disease. In the classic form, the parieto-occipital white matter is affected. Besides, atypical MRI findings such as primary frontal lobe involvement are rarely described. We report a case of adrenoleukodystrophy presenting with rare MRI findings such as bilateral symmetric frontal lobe white matter changes suggesting anterior predominance.
肾上腺脑白质营养不良是一种罕见的 X 连锁遗传性疾病，导致体内所有组织中长链脂肪酸的积累，从而导致白质脱髓鞘。磁共振成像（MRI）是一种可靠的影像学方法，可以显示脑病变的范围和疾病的严重程度。在经典形式中，顶枕叶白质受到影响。此外，还很少描述原发性额叶受累等非典型 MRI 表现。我们报告了一例肾上腺脑白质营养不良病例，其 MRI 表现罕见，如双侧对称额叶白质改变，提示前优势。
