Abstract
Hyperekplexia is a rare, potentially treatable inherited disorder of glycinergic neurotransmission,
which is characterized by neonatal onset exaggerated startle response to somatosensory,
auditory stimuli, and episodic tonic spasm. Prolonged tonic spasms can be life-threatening
and associated with apnea and bradycardia. Awareness about this condition avoids misdiagnosis
such as tonic seizures and epilepsy. We describe a term newborn with episodic tonic
stiffness mistaken for seizures. Classical exaggerated startle reaction, positive
head retraction response to glabellar tap, and characteristic video electroencephalogram
confirmed the diagnosis.
Keywords
neonate - spasm - seizures - startle - glabellar tap
