Atypical juvenile myoclonic epilepsy with structural brain abnormalities and cognitive impairment: A case report

Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy affecting 5–10% of epilepsy patients. Its exact cause remains unknown, but recent studies indicate frontal region involvement. It responds well to anticonvulsants but is often misdiagnosed with focal-onset epilepsy. We present a 9-year-old girl with myoclonic, absence, and generalized tonic-clonic seizures happening over three months. EEG revealed slow spike and wave complexes with generalized poly-spikes, while brain MRI identified encephalomalacia cysts with right frontotemporal lobe hemiatrophy. Valproic acid treatment led to seizure-free status for one month. In conclusion, timely EEG and neuroimaging are pivotal in identifying structural abnormalities in JME patients with pronounced cognitive impairment, enabling tailored treatment and better outcomes.