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.

Brain & Development
|April 28, 2019
PubMed

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.
Abstract

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