NMC Case Report Journal
Online ISSN : 2188-4226
ISSN-L : 2188-4226
CASE REPORT
An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma
Natsumi BABATomoyuki KAWATAKITakeshi TAKETANIHiroyuki KINOUCHI
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2024 Volume 11 Pages 237-241

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Abstract

Hyperekplexia is a rare neurological disorder that is characterized by an excessive startle response to unexpected stimuli. Recently, heterogeneous causative genes have been identified. Most cases are diagnosed during the neonatal period from hypertonia or stiffness. Adult cases are relatively rare and can cause severe head injury, but they are often misdiagnosed, typically as epilepsy or psychiatric disorders, due to the rarity of the pathology. This report describes a genetically confirmed case of hyperekplexia in an adult with head trauma, highlighting the features of head trauma and discussing potential pitfalls in the diagnosis of adult patients with hyperekplexia.

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© 2024 The Japan Neurosurgical Society

This article is licensed under a Creative Commons [Attribution-NonCommercial-NoDerivatives 4.0 International] license.
https://creativecommons.org/licenses/by-nc-nd/4.0/
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