一名 30 多岁的男性有 6 个月的左脸、手臂和腿部进行性无力的病史。病史包括癫痫和维生素 B12 缺乏症。三名母亲的二级亲属在 7 岁之前就因各种神经系统疾病去世。检查显示，左面部轻度下垂，左肩、臀部和脚踝无力。反射对称，音调正常。鉴别诊断包括神经胶质瘤、亚急性梗塞、淋巴瘤和脱髓鞘。大脑 MRI 显示右侧皮质下白质广泛病变，并延伸至脑干。患者的虚弱症状在 3 个月内不断恶化。脑活检显示脱髓鞘和神经胶质增生的证据。病理诊断为肿胀性多发性硬化症，但也提出了罕见的代谢性疾病，如 X 连锁肾上腺脑白质营养不良 (X-ALD)。血清极长链脂肪酸显着升高。基因检测显示 ABCD1 基因发生突变，证实了 X-ALD 的诊断。© BMJ Publishing Group Limited 2023。不得商业重复使用。请参阅权利和权限。英国医学杂志出版。

A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B12 deficiency. Three maternal second degree relatives died before the age of 7 from various neurological disorders. Examination revealed a mild left facial droop and weakness of the left shoulder, hip and ankle. Reflexes were symmetrical and tone was normal. Differential diagnosis included glioma, subacute infarction, lymphoma and demyelination. MRI brain showed an extensive right sided subcortical white matter lesion, with extension into the brainstem. The patient's weakness progressed over 3 months. Brain biopsy showed evidence of demyelination and gliosis. A pathological diagnosis of tumefactive multiple sclerosis was made, but also rare metabolic disorders such as X-linked adrenoleukodystrophy (X-ALD) were proposed. Serum very long-chain fatty acids were significantly elevated. Genetic testing showed a mutation in the ABCD1 gene, confirming a diagnosis of X-ALD.© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.