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-γ 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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TzoulisC, EngelsenBA, TelstadW. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain2006; 129: 1685–92.
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EngelsenBA, TzoulisC, KarlsenB. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain2008; 131: 818–28. http://dx.doi.org/10.1093/brain/awn007
