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以慢性非进行性脊髓疾病为表现的肾上腺脑白质营养不良携带者状态。

Adrenoleukodystrophy carrier state presenting as a chronic nonprogressive spinal cord disorder.

作者信息

Noetzel M J, Landau W M, Moser H W

出版信息

Arch Neurol. 1987 May;44(5):566-7. doi: 10.1001/archneur.1987.00520170092031.

Abstract

Females who are heterozygous for adrenoleukodystrophy (ALD) can be identified biochemically. Since most carriers for this disease are asymptomatic, their diagnosis usually occurs only after neurologically abnormal male relatives have been investigated. We describe a woman with a chronic nonprogressive spinal cord syndrome secondary to the ALD heterozygote state. The neurologic condition in this patient suggests that the diagnosis of ALD should be considered in women with evidence of white matter disease.

摘要

肾上腺脑白质营养不良(ALD)杂合子女性可通过生化方法鉴定。由于该疾病的大多数携带者无症状,通常只有在对神经功能异常的男性亲属进行检查后才会对她们进行诊断。我们描述了一名患有继发于ALD杂合子状态的慢性非进行性脊髓综合征的女性。该患者的神经状况表明,有白质疾病证据的女性应考虑诊断为ALD。

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