Ohtahara Syndrome

 

Presentation

Rare epileptic encephalopathy manifesting in early infancy, also called early infantile epileptic encephalopathy (EIEE) with burst-suppression.

Some have underlying gene mutations (e.g. CDKL5, ARX, STXBP1, KCNQ2), structural brain malformation or metabolic disorder.

 

Different seizure types seen, including tonic flexion spasms (last up to 10 seconds), focal seizures, myoclonic jerks (uncommon) or GTCs; seizures are often in clusters and become intractable.

 

Development is severely affected; there may be acquired microcephaly or developmental regression particularly motor skills and cognition.

 

Investigation

EEG has severe background abnormalities with a suppression-burst pattern (high amplitude spikes followed by slow flat waves).

Some cases may evolve in to West Syndrome and shows hypsarrhythmia.

 

Treatment

The seizures are often intractable.

Consider Levetiracetam, Clobazam, Stiripentol or Vigabatrin.

Pyridoxine or Prednisolone may be tried in young infants.

Rescue ‘Midazolam’ may be necessary for prolonged or cluster seizures.

Some metabolic disorders may need specific management; structural brain abnormality may require surgical intervention.

Symptomatic and supportive care often necessary for feeding, low muscle tone or spasticity, and repeated chest infections.

Development is often arrested, with profound disability and risk of aspiration leading to short lifespan.