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肾上腺脑白质营养不良-小脑-脑干优势型病例。

Adrenoleukodystrophy-cerebello-brainstem dominant case.

作者信息

Kuroda S, Hirano A, Yuasa S

出版信息

Acta Neuropathol. 1983;60(1-2):149-52. doi: 10.1007/BF00685361.

Abstract

A case of adrenoleukodystrophy was studied morphologically and biochemically. The patient was a 28-year-old man with no family history of adrenoleukodystrophy. His neurologic symptoms were cerebellar ataxia, spastic paraplegia, pseudo-bulbar palsy, and a minimal visual disturbance, with neither adrenal nor hypogonadal symptoms. The morphological and biochemical findings in this case are identical with those in typical adrenoleukodystrophy, but the topographical distribution of the lesions is distinctly different. The changes selectively affect the white matter in the cerebellum and brain stem in contrast to minimal involvement of the occipital white matter.

摘要

对一例肾上腺脑白质营养不良患者进行了形态学和生物化学研究。患者为一名28岁男性,无肾上腺脑白质营养不良家族史。其神经症状为小脑共济失调、痉挛性截瘫、假性延髓麻痹和轻微视力障碍,无肾上腺或性腺功能减退症状。该病例的形态学和生物化学发现与典型肾上腺脑白质营养不良相同,但病变的部位分布明显不同。与枕叶白质受累轻微形成对比的是,这些变化选择性地影响小脑和脑干的白质。

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