Hyperekplexia, A Rare Cause of Neonatal Hypertonia: Report of Two Cases

Abstract

Hyperekplexia (startle disease) is a rare neurogenetic disorder, frequently misdiagnosed with the risk of choking on food, apnea and sudden death. Recognition of this disorder in the neonatal period is essential to avoid erroneous diagnoses and to start early treatment that has proven effective. We report two cases of two newborns who were initially admitted in our neonatal intensive care unit for management of suspected tetanus and epilepsy. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was retained in both cases and a low dose of clonazepam was administered. The symptoms gradually decreased until disappearance of hypertonia and startles.