Evolution of Ohtahara syndrome to continuous spikes and waves during slow sleep in an infant

Area of Science:

• Pediatric Neurology
• Epileptology
• Clinical Neurophysiology

Background:

• Encephalopathy with electrical status epilepticus in sleep (ESES) is an age-related syndrome.
• Continuous spikes and waves during slow sleep (CSWS) characterizes ESES, typically emerging between ages 4-5 and resolving by age 11.
• The etiology of ESES remains largely unknown.

Observation:

• A case of CSWS was unexpectedly identified in an 18-month-old male infant.
• The infant presented with a history of seizures from day 1 of life and developmental delay.
• Previous EEG at 45 days showed a burst suppression pattern, raising suspicion for Ohtahara syndrome.

Findings:

• This case represents a novel presentation of CSWS in a neonate with prior seizure activity and developmental delay.
• This contrasts with the typical presentation of ESES, which usually occurs in older children with normal prior development and EEG findings.
• The early onset and co-occurrence with neonatal seizures and developmental delay are unique.

Implications:

• Highlights the importance of sleep EEG in evaluating pediatric epilepsy, even with abnormal awake EEGs.
• Suggests that CSWS may have earlier and more varied presentations than previously understood.
• Underscores the need to consider ESES in infants with unexplained seizures and developmental regression.