肾上腺脑白质营养不良：两名成年后发病的兄弟的临床、病理及生化检查结果

Adrenoleukodystrophy: clinical, pathological and biochemical findings in two brothers with the onset of cerebral disease in adult life.

作者信息

Esiri M M, Hyman N M, Horton W L, Lindenbaum R H

出版信息

Neuropathol Appl Neurobiol. 1984 Nov-Dec;10(6):429-45. doi: 10.1111/j.1365-2990.1984.tb00392.x.

DOI:10.1111/j.1365-2990.1984.tb00392.x

Abstract

Two brothers are described in whom adrenoleukodystrophy (ALD) presented as progressive cerebral degeneration in early adult life. Diagnosis during the life of one brother was based on cerebral biopsy appearances. At autopsy there was a leucodystrophy and an additional myelopathy in both cases. Biochemical studies carried out on the propositi and other family members revealed characteristic abnormalities of ALD in the propositi and two, as yet clinically unaffected, adult brothers, and abnormalities characteristic of the heterozygous state in their mother. Neither of the clinically affected brothers showed clinical features of hypoadrenalism and these cases emphasize the importance of considering the diagnosis of ALD in adult males with leucodystrophy even in the absence of overt adrenal insufficiency.

摘要

本文描述了两兄弟，他们在成年早期出现肾上腺脑白质营养不良（ALD），表现为进行性脑变性。其中一名兄弟在生前通过脑活检结果得以确诊。尸检发现两例均存在脑白质营养不良以及额外的脊髓病。对先证者和其他家庭成员进行的生化研究显示，先证者和另外两名尚未出现临床症状的成年兄弟存在ALD的特征性异常，而他们的母亲则表现出杂合子状态的特征性异常。两名出现临床症状的兄弟均未表现出肾上腺功能减退的临床特征，这些病例强调了即使在没有明显肾上腺功能不全的情况下，对于患有脑白质营养不良的成年男性考虑ALD诊断的重要性。