Sporadic Hyperekplexia Plus Syndrome
Identifieur interne : 002315 ( Pmc/Curation ); précédent : 002314; suivant : 002316Sporadic Hyperekplexia Plus Syndrome
Auteurs : Sadanandavalli Retnaswami Chandra [Inde] ; Chetan Vekhande [Inde] ; Lakshminarayanapuram Gopal Viswanathan [Inde] ; Pooja Mailankody [Inde] ; Karru Venkata Ravi Teja [Inde]Source :
- Journal of Pediatric Neurosciences [ 1817-1745 ] ; 2017.
Abstract
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.
Url:
DOI: 10.4103/jpn.JPN_170_16
PubMed: 28553377
PubMed Central: 5437785
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<front><journal-meta><journal-id journal-id-type="nlm-ta">J Pediatr Neurosci</journal-id>
<journal-id journal-id-type="iso-abbrev">J Pediatr Neurosci</journal-id>
<journal-id journal-id-type="publisher-id">JPN</journal-id>
<journal-title-group><journal-title>Journal of Pediatric Neurosciences</journal-title>
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<issn pub-type="ppub">1817-1745</issn>
<issn pub-type="epub">1998-3948</issn>
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<article-id pub-id-type="pmc">5437785</article-id>
<article-id pub-id-type="publisher-id">JPN-12-36</article-id>
<article-id pub-id-type="doi">10.4103/jpn.JPN_170_16</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
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</article-categories>
<title-group><article-title>Sporadic Hyperekplexia Plus Syndrome</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Chandra</surname>
<given-names>Sadanandavalli Retnaswami</given-names>
</name>
<xref ref-type="aff" rid="aff1"></xref>
<xref ref-type="corresp" rid="cor1"></xref>
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<contrib contrib-type="author"><name><surname>Vekhande</surname>
<given-names>Chetan</given-names>
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<xref ref-type="aff" rid="aff1"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Viswanathan</surname>
<given-names>Lakshminarayanapuram Gopal</given-names>
</name>
<xref ref-type="aff" rid="aff1"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mailankody</surname>
<given-names>Pooja</given-names>
</name>
<xref ref-type="aff" rid="aff2">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Teja</surname>
<given-names>Karru Venkata Ravi</given-names>
</name>
<xref ref-type="aff" rid="aff3">2</xref>
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<aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</aff>
<aff id="aff2"><label>1</label>
Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</aff>
<aff id="aff3"><label>2</label>
Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</aff>
<author-notes><corresp id="cor1"><bold><italic>Address for correspondence:</italic>
</bold>
Dr. Sadanandavalli Retnaswami Chandra, Department of Neurology, Faculty Block, Neurocentre, National Institute of Mental Health and Neurosciences, Bengaluru - 560 029, Karnataka, India. E-mail: <email xlink:href="drchandrasasi@yahoo.com">drchandrasasi@yahoo.com</email>
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</author-notes>
<pub-date pub-type="ppub"><season>Jan-Mar</season>
<year>2017</year>
</pub-date>
<volume>12</volume>
<issue>1</issue>
<fpage>36</fpage>
<lpage>39</lpage>
<permissions><copyright-statement>Copyright: © 2017 Journal of Pediatric Neurosciences</copyright-statement>
<copyright-year>2017</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc-sa/3.0"><license-p>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.</license-p>
</license>
</permissions>
<abstract><p>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.</p>
</abstract>
<kwd-group><title>K<sc>EYWORDS</sc>
</title>
<kwd><italic>Differential diagnosis</italic>
</kwd>
<kwd><italic>hyperekplexia plus</italic>
</kwd>
<kwd><italic>startle</italic>
</kwd>
</kwd-group>
</article-meta>
</front>
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