Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis

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.

Publication types

  • Case Reports

MeSH terms

  • DNA Helicases / genetics
  • Diagnosis, Differential
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics
  • Mutation
  • Myasthenia Gravis / diagnosis*
  • Ophthalmoplegia, Chronic Progressive External / diagnosis*
  • Ophthalmoplegia, Chronic Progressive External / genetics

Substances

  • Mitochondrial Proteins
  • DNA Helicases
  • C10ORF2 protein, human