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 polyspikes, 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.