Author(s): 
M Vinjam, R Newby, R Davey
Journal Issue: 
Volume 45: Issue 4: 2015

Format

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 under-recognised, mitochondrial disease.
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