Mitochondrial diseases can present as occipital lobe epilepsy and recurrent status epilepticus.

Hereby, we describe a case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome in a patient who initially presented with clusters of focal seizures originating in left occipital lobe and subsequently migrated to contralateral side with migrating imaging lesions. 

Case Description: A developmentally normal 16 years old teenage boy with seizure semiology of occipital lobe onset on Levetiracetam 1000mg BID presented to the ER with clusters of focal seizures.  The episodes consist of gaze and head deviation to the right with hemiclonic jerks and unawareness for about 20 to 30 seconds, vomiting, and confusion and drowsiness between the events. EEG showed spike and wave activity in left occipital head regions building up to fast rhythmic activity. MRI showed T2 hyperintense signal in left occipital lobe involving left temporal area. We added Lacosamide(LCS) 200 mg BID to Levetiracetam 1500mg BID on which he remained stable for eight months.

Further, he presented to ER with similar semiology of seizures but on left side.  EEG showed right occipital epileptiform discharges.  MRI head showed T2 hyperintense signal in right occipital-temporal lobes.

We sent samples for genetic screening to rule out possible mitochondrial syndrome. MT.TLI gene mutation m.3243 A>G was found along with lactic acidosis. MRI of the patient’s heart showed mild apical septal hypo-kinesia. Audiometry revealed bilateral asymmetric sensorineural hearing loss.    AS a result, we reached a confirmed diagnosis of MT.TLI gene mutation m.3243 A>G with MELAS (Mitochondrial encephalo-myopathy, lactic acidosis and stroke-like episodes) phenotype.