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

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...

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Bibliographic Details
Published in:BMJ case reports 2013-09, Vol.2013, p.bcr2013010181
Main Authors: Gonzalez-Moron, Dolores, Bueri, Jose, Kauffman, Marcelo Andres
Format: Article
Language:English
Subjects:
Biopsy
Deoxyribonucleic acid
Diagnosis, Differential
DNA
DNA Helicases - genetics
Genomes
Genotype & phenotype
Hearing loss
Humans
Male
Middle Aged
Mitochondrial DNA
Mitochondrial Proteins - genetics
Mutation
Myasthenia Gravis - diagnosis
Ophthalmoplegia, Chronic Progressive External - diagnosis
Ophthalmoplegia, Chronic Progressive External - genetics
Ostomy
South/Central America
Unusual Presentation of More Common Disease/Injury
White
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Summary: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2013-010181