An Autistic Female with Refractory Juvenile Myoclonic Epilepsy and Sequelae of Neonatal Cerebellar Insults, Effectively Treated with Perampanel

The patient was a 27-year-old mildly intellectually disabled woman with autistic spectrum disorder (ASD) and juvenile myoclonic epilepsy (JME). The patient’s condition had shown resistance to many antiepileptic drugs; however, perampanel (PER) was effective. The patient’s electroencephalogram (EEG) records were consistent with those of JME, and brain magnetic resonance imaging showed a normal cerebrum and limbic system but the characteristic sequelae of cerebellar insults, such as cerebellitis. The discontinuation of lamotrigine (LTG) induced suspected myoclonic atonic seizures (MAS) that were worsened by adding levetiracetam (LEV) but improved by the administration of rafinamide (RFN). The further administration of PER improved all symptoms and EEG findings of the patient within two weeks, and the patient has been seizure-free for more than two years. The present case report demonstrates that the sequelae of neonatal cerebellitis can cause JME, and the withdrawal of LTG induces myoclonic atonic seizures. PER can modify the pathogenic cerebellar focus of JME.