Hyperekplexia (startle disease) mimicking neonatal seizures: report of one case.

Herein we report a case of a male infant with hyperekplexia. He was born after an uneventful pregnancy to healthy unrelated parents. At 2 days, he began to have frequent episodes of apnea accompanied with generalized tonic posture. Phenobarbital had been prescribed for the suspicion of neonatal seizures. However, the attack frequency remained the same. Clonazepam and clobazam were prescribed under the impression of hyperekplexia after the infant reached one month, and the apnea attacks quickly decreased. The startle reaction to tapping of the nasal bridge persisted at the age of 2 years. His growth and development were compatible with his age. A timely diagnosis in cases of hyperekplexia is crucial because affected neonates are at risk of sudden death from apnea.