J Pediatr Neurol 2019; 17(04): 146-148
DOI: 10.1055/s-0038-1661413
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Neonate with Exaggerated Startle and Tonic Spasms

Shivan Keshavan
1  Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Guruprasad Peruri
1  Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Renu Suthar
1  Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Suresh Kumar Angurana
1  Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Lokesh Saini
1  Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
,
Jitendra Sahu
1  Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
› Author Affiliations
Further Information

Publication History

24 April 2018

23 May 2018

Publication Date:
30 June 2018 (eFirst)

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.