Sporadic Hyperekplexia Plus Syndrome
Identifieur interne : 000169 ( Main/Exploration ); précédent : 000168; suivant : 000170Sporadic 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
Affiliations:
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Teja</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka</wicri:regionArea><wicri:noRegion>Karnataka</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of Pediatric Neurosciences</title><idno type="ISSN">1817-1745</idno><idno type="eISSN">1998-3948</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. 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Shapiro</name></author><author><name sortKey="Young, Jg" uniqKey="Young J">JG Young</name></author><author><name sortKey="Feinberg, Te" uniqKey="Feinberg T">TE Feinberg</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="John, Ld" uniqKey="John L">LD John</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Inde</li></country></list><tree><country name="Inde"><noRegion><name sortKey="Chandra, Sadanandavalli Retnaswami" sort="Chandra, Sadanandavalli Retnaswami" uniqKey="Chandra S" first="Sadanandavalli Retnaswami" last="Chandra">Sadanandavalli Retnaswami Chandra</name></noRegion><name sortKey="Mailankody, Pooja" sort="Mailankody, Pooja" uniqKey="Mailankody P" first="Pooja" last="Mailankody">Pooja Mailankody</name><name sortKey="Teja, Karru Venkata Ravi" sort="Teja, Karru Venkata Ravi" uniqKey="Teja K" first="Karru Venkata Ravi" last="Teja">Karru Venkata Ravi Teja</name><name sortKey="Vekhande, Chetan" sort="Vekhande, Chetan" uniqKey="Vekhande C" first="Chetan" last="Vekhande">Chetan Vekhande</name><name sortKey="Viswanathan, Lakshminarayanapuram Gopal" sort="Viswanathan, Lakshminarayanapuram Gopal" uniqKey="Viswanathan L" first="Lakshminarayanapuram Gopal" last="Viswanathan">Lakshminarayanapuram Gopal Viswanathan</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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