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Sporadic Hyperekplexia Plus Syndrome
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz–Jampel syndro...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437785/ https://www.ncbi.nlm.nih.gov/pubmed/28553377 http://dx.doi.org/10.4103/jpn.JPN_170_16 |
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author | Chandra, Sadanandavalli Retnaswami Vekhande, Chetan Viswanathan, Lakshminarayanapuram Gopal Mailankody, Pooja Teja, Karru Venkata Ravi |
author_facet | Chandra, Sadanandavalli Retnaswami Vekhande, Chetan Viswanathan, Lakshminarayanapuram Gopal Mailankody, Pooja Teja, Karru Venkata Ravi |
author_sort | Chandra, Sadanandavalli Retnaswami |
collection | PubMed |
description | A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz–Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period. He was having hyperalert facies, intelligent, cooperative with mild dysmorphism. His investigations were noncontributory except giant somatosensory evoked potentials and skeletal abnormalities. He showed excellent response to clonazepam and no complications on withdrawing the antiepileptic drugs. Proper diagnosis is of great therapeutic relevance and is based on high degree of suspicion. |
format | Online Article Text |
id | pubmed-5437785 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-54377852017-05-26 Sporadic Hyperekplexia Plus Syndrome Chandra, Sadanandavalli Retnaswami Vekhande, Chetan Viswanathan, Lakshminarayanapuram Gopal Mailankody, Pooja Teja, Karru Venkata Ravi J Pediatr Neurosci Case Report A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz–Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period. He was having hyperalert facies, intelligent, cooperative with mild dysmorphism. His investigations were noncontributory except giant somatosensory evoked potentials and skeletal abnormalities. He showed excellent response to clonazepam and no complications on withdrawing the antiepileptic drugs. Proper diagnosis is of great therapeutic relevance and is based on high degree of suspicion. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5437785/ /pubmed/28553377 http://dx.doi.org/10.4103/jpn.JPN_170_16 Text en Copyright: © 2017 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Chandra, Sadanandavalli Retnaswami Vekhande, Chetan Viswanathan, Lakshminarayanapuram Gopal Mailankody, Pooja Teja, Karru Venkata Ravi Sporadic Hyperekplexia Plus Syndrome |
title | Sporadic Hyperekplexia Plus Syndrome |
title_full | Sporadic Hyperekplexia Plus Syndrome |
title_fullStr | Sporadic Hyperekplexia Plus Syndrome |
title_full_unstemmed | Sporadic Hyperekplexia Plus Syndrome |
title_short | Sporadic Hyperekplexia Plus Syndrome |
title_sort | sporadic hyperekplexia plus syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437785/ https://www.ncbi.nlm.nih.gov/pubmed/28553377 http://dx.doi.org/10.4103/jpn.JPN_170_16 |
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