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Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
J Child Neurol
October 2024
Department of Educational Science, University of Catania, Catania, Italy.
Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.
View Article and Find Full Text PDFHyperekplexia: A Frequent Near Miss in Infants and Young Children.
Neurol India
March 2022
Department of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, New Delhi, India.
Hyperekplexia, an underdiagnosed motor paroxysm of infancy, mimics epilepsy closely. It is hallmarked by episodic and excessive startle response, brief episodes of intense, generalized hypertonia, or stiffness in response to unexpected auditory and/or tactile stimuli right from birth. Though a seemingly benign entity with an excellent prognosis, hyperekplexia has been occasionally associated with recurrent apneas, feeding difficulties, and sudden infant death syndrome (SIDS).
View Article and Find Full Text PDFNose-tapping Test in Hyperekplexia.
Indian Pediatr
May 2018
Department of Neonatology, Fernandez Hospital, Hyderabad, Telangana, India.
Nose tapping test inducing a generalized flexor spasm: a hallmark of hyperexplexia.
Acta Paediatr Scand
November 1991
Child Neurology Unit, Chaim Sheba Medical Center, Tel Hashomer, Israel.
The present report describes a benign disorder of neonates or young infants presenting with generalized hypertonicity accompanied by brisk muscle stretch reflexes, intermittent clonus, and exaggerated startle response. This condition is termed hyperexplexia, and may be either familial or sporadic. Two affected families are reported: Two sisters and their mother are involved in the first family; in the second family, where the parents are asymptomatic first degree cousins, all three siblings suffer from hyperexplexia of various severity.
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