初诊为脑梗死的X连锁肾上腺脑白质营养不良1例报道

doi:10.3969/j.issn.1673-5765.2026.02.014

中国卒中杂志 ›› 2026, Vol. 21 ›› Issue (2): 252-256.DOI: 10.3969/j.issn.1673-5765.2026.02.014

• 罕见病例教学 • 上一篇

初诊为脑梗死的X连锁肾上腺脑白质营养不良1例报道

龚宇田¹，梁新明²，曲辉¹，周衡¹，陈玮琪¹，刘艳芳¹，赵性泉^1，3，4，王伊龙^{1，2，3，4，5，6，7，8}

1北京 100070 首都医科大学附属北京天坛医院神经病学中心，天坛罕见神经疾病临床与转化中心
2南阳 473000 南阳市中心医院神经内科
3北京 100070 国家神经疾病医学中心
4北京 100070 神经系统疾病国家临床医学研究中心
5北京 102206 北京脑科学与类脑研究所
6北京 100070 首都医科大学人脑保护高精尖创新中心
7北京 100069 口腔健康北京实验室
8北京 100069 临床流行病学北京市重点实验室

收稿日期:2025-10-10 修回日期:2026-01-12 接受日期:2026-02-08 出版日期:2026-02-20 发布日期:2026-02-20
通讯作者: 王伊龙 yilong528@aliyun.com
基金资助:
国家自然科学基金委员会杰出青年科学基金项目（81825007）
北京市科技新星计划资助 (20230484245)

A Case Report of X-Linked Adrenoleukodystrophy Initially Diagnosed as Cerebral Infarction

GONG Yutian¹, LIANG Xinming², QU Hui¹, ZHOU Heng¹, CHEN Weiqi¹, LIU Yanfang¹, ZHAO Xingquan^1,3,4, WANG Yilong^{1,2,3,4,5,6,7,8}

1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Tiantan Clinical ＆ Translational Center for Rare Neurological Disorders, Beijing 100070, China
2Department of Neurology, Nanyang Central Hospital, Nanyang 473000, China
3National Center for Neurological Disorders, Beijing 100070, China
4China National Clinical Research Center for Neurological Diseases, Beijing 100070, China
5Chinese Institute for Brain Research, Beijing 102206, China
6Advanced Innovation Center for Human Brain Protection, Capital Medical University, Beijing 100070, China
7Beijing Laboratory of Oral Health, Beijing 100069, China
8Beijing Key Laboratory of Clinical Epidemiology, Beijing 100069, China

Received:2025-10-10 Revised:2026-01-12 Accepted:2026-02-08 Online:2026-02-20 Published:2026-02-20
Contact: WANG Yilong, E-mail: yilong528@ailiyun.com

摘要/Abstract

摘要： X连锁肾上腺脑白质营养不良（X-linked adrenoleukodystrophy，X-ALD）是一组罕见的神经系统疾病，其突变位点及临床表现多样，具有遗传异质性和临床异质性。该病的诊断需结合极长链脂肪酸浓度检测与ATP结合盒转运蛋白D1（ATP-binding cassette transporter D member 1，ABCD1）基因的遗传学分析。本文报道1例表现不典型的X-ALD患者被误诊为脑梗死的临床诊疗过程。该患者为青年男性，表现为进行性步态障碍、下肢痉挛伴无力。在诊疗过程中，该病例最初被诊断为脑梗死并接受相应治疗，后经进一步检查发现其存在ABCD1基因突变，最终确诊为X-ALD。本病例提示，对于表现为进行性痉挛性截瘫的患者，鉴别诊断时应考虑X-ALD的可能。

关键词: X连锁肾上腺脑白质营养不良; 三磷酸腺苷结合盒转运蛋白D1; 遗传性疾病

Abstract: X-linked adrenoleukodystrophy (X-ALD) is a group of rare neurological disorders characterized by diverse mutation sites and clinical manifestations, exhibiting both genetic and clinical heterogeneity. The diagnosis of this disease requires a combination of very long-chain fatty acid concentration testing and genetic analysis of the ATP-binding cassette transporter D member 1 (ABCD1). This article reports the clinical diagnosis and treatment process of an atypical case of X-ALD that was initially misdiagnosed as cerebral infarction. The patient was a young male presenting with progressive gait disturbance and lower limb spasticity accompanied by weakness. During the diagnostic process, the patient was initially diagnosed with cerebral infarction and treated accordingly. Subsequently, genetic testing revealed a mutation in the ABCD1, leading to a definitive diagnosis of X-ALD. This case highlights the importance of considering X-ALD as a potential differential diagnosis in patients presenting with progressive spastic paraplegia.

Key words: X-linked adrenoleukodystrophy; Adenosine triphosphate-binding cassette transporter D member 1; Inherited disorder

中图分类号:

龚宇田, 梁新明, 曲辉, 周衡, 陈玮琪, 刘艳芳, 赵性泉, 王伊龙. 初诊为脑梗死的X连锁肾上腺脑白质营养不良1例报道[J]. 中国卒中杂志, 2026, 21(2): 252-256.

GONG Yutian, LIANG Xinming, QU Hui, ZHOU Heng, CHEN Weiqi, LIU Yanfang, ZHAO Xingquan, WANG Yilong. A Case Report of X-Linked Adrenoleukodystrophy Initially Diagnosed as Cerebral Infarction[J]. Chinese Journal of Stroke, 2026, 21(2): 252-256.

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初诊为脑梗死的X连锁肾上腺脑白质营养不良1例报道

A Case Report of X-Linked Adrenoleukodystrophy Initially Diagnosed as Cerebral Infarction

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