由C10orf2（PEO1）基因突变引起的进行性眼外肌麻痹（PEO），酷似重症肌无力危象。
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.
作者信息
Gonzalez-Moron Dolores, Bueri Jose, Kauffman Marcelo Andres
机构信息
Neurogenetics Unit, Hospital JM Ramos Mejia, Buenos Aires, Argentina.
出版信息
BMJ Case Rep. 2013 Sep 7;2013:bcr2013010181. doi: 10.1136/bcr-2013-010181.
Abstract
We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the C10orf2 (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.
摘要
我们描述了一例常染色体显性遗传性进行性眼外肌麻痹（PEO）患者，该患者在心脏手术后急性出现吞咽困难、四肢瘫痪、上睑下垂和呼吸功能不全，临床表现酷似重症肌无力危象。已证实其C10orf2（PEO1）基因存在致病性突变。该患者的不寻常表现有助于拓展PEO1突变的临床表型，并进一步强调即使对于急性起病的症状，在鉴别诊断重症肌无力时也需考虑线粒体肌病。
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