Progressive external ophthalmoplegia (PEO) due to a mutation in theC10orf2(PEO1) gene mimicking a myasthenic crisis

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 theC10orf2(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.

Gastrointestinal manifestations of mitochondrial disorders: a systematic review

“…Dysphagia may occur in syndromic MIDs as well as nonsyndromic MIDs. Among the syndromic MIDs it has been reported in myoclonic epilepsy with ragged-red fibers (MERRF) syndrome with brain stem stroke-like episodes [Poungvarin and Viriyavejakul, 1991], CPEO [Zaganas et al 2009; Reyes et al 2015; Pfeffer et al 2014], KSS [Gonzalez-Moron et al 2013; Kapeller et al 1996], Pearson syndrome (PS) [Lacbawan et al 2000], Leigh syndrome (LS) [Ma et al 2011], PCH [Szabó et al 2008], Wolfram syndrome (WS) [Saiz et al 1995], Mohr–Tranebjaerg syndrome (MTS) [Merchant et al 2001], sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) [Tanaka et al 2013; Gáti et al 2011], or MNGIE [Hussein, 2013] (Table 2). In a family carrying a mutation in the RNASEH1 gene, CPEO was accompanied by dysphagia, general weakness, and spinocerebellar ataxia [Zaganas et al 2009].…”

“…One of the most important measures to treat GI manifestations of MIDs is the avoidance of mitochondrion-toxic drugs, such as chloramphenicol, aminoglycosides, linezolide, valproic acid, nucleoside reverse transcriptase inhibitors, dichloroacetate, carbamazepine, phenytoin, phenobarbital, or statins. [Gonzalez-Moron et al 2013], which is not well known by many of the treating physicians. Valproic acid should not be given to patients with AHD or other MIDs with liver involvement, since it may cause acute liver failure particularly in patients carrying POLG1 mutations.…”

Strabismus in chronic progressive external ophthalmoplegia

“…Although patients with OMG usually show variable ophthalmoplegia and ptosis (Ahn et al 2018), some patients have a progressive course similar to CPEO (Brust et al 1974; Das et al 2002). In addition, patients with CPEO may show myasthenic crisis and could be misdiagnosed as having OMG (Gonzalez‐Moron et al 2013). CPEO might show positive neostigmine test, fatigable weakness and neuromuscular transmission blockage (Le Forestier et al 1995).…”

Progressive external ophthalmoplegia

“…При миастении отмечаются заметные флуктуации мышечной силы в течение дня, она также характеризуется острым или подострым началом с различной выраженностью птоза, подвижности глазных яблок и страбизма при осмотре. ХПНО очень редко дебютирует остро [63]. При обследовании пациента с ХПНО можно обнаружить легкую утомляемость мышц век, но значительное истощение при пролонгированном тесте взгляда вверх или выраженная разница в подвижности глазных яблок и улучшение состояния во время одного визита указывает на диагноз миастении [64].…”