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表现为点头痉挛的 Leigh 亚急性坏死性脑脊髓病

Leigh's subacute necrotizing encephalomyelopathy manifesting as spasmus nutans.

作者信息

Sedwick L A, Burde R M, Hodges F J

出版信息

Arch Ophthalmol. 1984 Jul;102(7):1046-8. doi: 10.1001/archopht.1984.01040030848030.

DOI:10.1001/archopht.1984.01040030848030
PMID:6743083
Abstract

Subacute necrotizing encephalomyelopathy (SNE), or Leigh's disease, is an unusual neurologic disorder that is associated with nystagmus, strabismus, and optic atrophy in the majority of cases, and is most often described in infants. The defect currently thought to account for SNE is the presence of an inhibitor factor in the thiamine pathway. We saw a patient whose eye findings initially were believed to represent spasmus nutans, but whose clinical course, computed tomographic findings, and autopsy findings were typical of SNE.

摘要

亚急性坏死性脑脊髓病(SNE),即 Leigh 病,是一种罕见的神经系统疾病,大多数病例伴有眼球震颤、斜视和视神经萎缩,且多见于婴儿。目前认为导致 SNE 的缺陷是硫胺素途径中存在一种抑制因子。我们见过一名患者,其眼部表现最初被认为是痉挛性斜颈,但临床病程、计算机断层扫描结果和尸检结果均符合 SNE 的典型特征。

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Leigh's subacute necrotizing encephalomyelopathy manifesting as spasmus nutans.表现为点头痉挛的 Leigh 亚急性坏死性脑脊髓病
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