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Case Reports
. 2015;45(4):281-3.
doi: 10.4997/JRCPE.2015.407.

A mitochondrial malady: stubborn seizures and atypical migraine

M Vinjam  1 , R Newby, R Davey
Affiliations
Case Reports

A mitochondrial malady: stubborn seizures and atypical migraine

M Vinjam et al. J R Coll Physicians Edinb. 2015.

Abstract

A 22-year-old female migraineur presented with recurrent convulsive status epilepticus and ataxia. Her epilepsy proved refractory to treatment, necessitating the use of five anti-epileptic drugs and a course of steroids. Genetic testing revealed compound heterozygosity for two mutations of the polymerase-? gene. The case highlights the clinical features and therapeutic challenges associated with this relatively common, but probably underrecognised, mitochondrial disease.

Keywords: epilepsy; ganglionopathy; migraine; mitochondrial; polymerase-γ.

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