A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital

Abstract Background Early myoclonic encephalopathy (EME) is an epileptic syndrome that develops in neonates, commonly within 1 month of birth. The condition is characterized by irregular, partial, and asynchronous myoclonus. The seizures in EME are generally refractory to antiepileptic drugs and no effective treatment for EME has been established. We encountered a case of EME in which oral high-dose phenobarbital therapy effectively alleviated seizures. Case report A male infant developed erratic myoclonus in the face and limbs, exhibited upward gaze and facial flushing 20–30 times a day since 1 week of age. Electroencephalogram (EEG) showed a burst-suppression pattern, and considering the clinical features, EME was diagnosed. Valproate and vitamin B6 treatments were initiated; however, they were not effective. At day 58 after birth, oral high-dose phenobarbital therapy was introduced which resulted in the suppression of seizures to one or two per week and disappearance of the burst-suppression pattern on EEG. Conclusion Oral high-dose phenobarbital treatment may be suitable for controlling seizures in EME.