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Published on: July 8, 2025
A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital
Takuya Kosaka1, Genrei Ohta1, Hiroshi Kometani2
1Department of Pediatrics, University of Fukui, Japan.
Insights
Early myoclonic encephalopathy (EME) is a neonatal epilepsy. High-dose phenobarbital effectively controlled seizures in a neonate with EME, suggesting a potential treatment for this condition.
Area of Science:
- Neonatal Neurology
- Epileptology
Background:
- Early myoclonic encephalopathy (EME) is a rare neonatal epileptic encephalopathy.
- Characterized by myoclonic seizures refractory to standard antiepileptic drugs.
- No established effective treatment for EME exists.
Observation:
- A male infant presented with erratic myoclonus, upward gaze, and facial flushing within the first week of life.
- Electroencephalogram (EEG) revealed a burst-suppression pattern, consistent with EME diagnosis.
- Initial treatments with valproate and vitamin B6 were ineffective.
Findings:
- Introduction of oral high-dose phenobarbital therapy led to significant seizure reduction.
- Seizures decreased from 20-30 times daily to 1-2 times weekly.
- EEG normalized, showing disappearance of the burst-suppression pattern.
Implications:
- Oral high-dose phenobarbital may be an effective treatment for controlling seizures in EME.
- This case highlights a potential therapeutic option for refractory neonatal epilepsy.
- Further research is warranted to confirm phenobarbital's efficacy in EME.
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.
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