Sporadic Hyperekplexia Plus Syndrome
Identifieur interne : 002316 ( Pmc/Corpus ); précédent : 002315; suivant : 002317Sporadic Hyperekplexia Plus Syndrome
Auteurs : Sadanandavalli Retnaswami Chandra ; Chetan Vekhande ; Lakshminarayanapuram Gopal Viswanathan ; Pooja Mailankody ; Karru Venkata Ravi TejaSource :
- 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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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sporadic Hyperekplexia Plus Syndrome</title><author><name sortKey="Chandra, Sadanandavalli Retnaswami" sort="Chandra, Sadanandavalli Retnaswami" uniqKey="Chandra S" first="Sadanandavalli Retnaswami" last="Chandra">Sadanandavalli Retnaswami Chandra</name><affiliation><nlm:aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><name sortKey="Vekhande, Chetan" sort="Vekhande, Chetan" uniqKey="Vekhande C" first="Chetan" last="Vekhande">Chetan Vekhande</name><affiliation><nlm:aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><name sortKey="Viswanathan, Lakshminarayanapuram Gopal" sort="Viswanathan, Lakshminarayanapuram Gopal" uniqKey="Viswanathan L" first="Lakshminarayanapuram Gopal" last="Viswanathan">Lakshminarayanapuram Gopal Viswanathan</name><affiliation><nlm:aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><name sortKey="Mailankody, Pooja" sort="Mailankody, Pooja" uniqKey="Mailankody P" first="Pooja" last="Mailankody">Pooja Mailankody</name><affiliation><nlm:aff id="aff2">Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><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><affiliation><nlm:aff id="aff3">Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28553377</idno><idno type="pmc">5437785</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437785</idno><idno type="RBID">PMC:5437785</idno><idno type="doi">10.4103/jpn.JPN_170_16</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">002316</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002316</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Sporadic Hyperekplexia Plus Syndrome</title><author><name sortKey="Chandra, Sadanandavalli Retnaswami" sort="Chandra, Sadanandavalli Retnaswami" uniqKey="Chandra S" first="Sadanandavalli Retnaswami" last="Chandra">Sadanandavalli Retnaswami Chandra</name><affiliation><nlm:aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><name sortKey="Vekhande, Chetan" sort="Vekhande, Chetan" uniqKey="Vekhande C" first="Chetan" last="Vekhande">Chetan Vekhande</name><affiliation><nlm:aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><name sortKey="Viswanathan, Lakshminarayanapuram Gopal" sort="Viswanathan, Lakshminarayanapuram Gopal" uniqKey="Viswanathan L" first="Lakshminarayanapuram Gopal" last="Viswanathan">Lakshminarayanapuram Gopal Viswanathan</name><affiliation><nlm:aff id="aff1">Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><name sortKey="Mailankody, Pooja" sort="Mailankody, Pooja" uniqKey="Mailankody P" first="Pooja" last="Mailankody">Pooja Mailankody</name><affiliation><nlm:aff id="aff2">Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></affiliation></author><author><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><affiliation><nlm:aff id="aff3">Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India</nlm:aff></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. 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></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kirstein, L" uniqKey="Kirstein L">L Kirstein</name></author><author><name sortKey="Silfverskiold, Bp" uniqKey="Silfverskiold B">BP Silfverskiold</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Suhren, O" uniqKey="Suhren O">O Suhren</name></author><author><name sortKey="Bruyn, Gw" uniqKey="Bruyn G">GW Bruyn</name></author><author><name sortKey="Tuynman, Ja" uniqKey="Tuynman J">JA Tuynman</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="De Groen, Jh" uniqKey="De Groen J">JH de Groen</name></author><author><name sortKey="Kamphuisen, Ha" uniqKey="Kamphuisen H">HA Kamphuisen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vigevano, F" uniqKey="Vigevano F">F Vigevano</name></author><author><name sortKey="Di Capua, M" uniqKey="Di Capua M">M Di Capua</name></author><author><name sortKey="Dalla Bernardina, B" uniqKey="Dalla Bernardina B">B Dalla Bernardina</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Praveen, V" uniqKey="Praveen V">V Praveen</name></author><author><name sortKey="Patole, Sk" uniqKey="Patole S">SK Patole</name></author><author><name sortKey="Whitehall, Js" uniqKey="Whitehall J">JS Whitehall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shahar, E" uniqKey="Shahar E">E Shahar</name></author><author><name sortKey="Raviv, R" uniqKey="Raviv R">R Raviv</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tijssen, Ma" uniqKey="Tijssen M">MA Tijssen</name></author><author><name sortKey="Vergouwe, Mn" uniqKey="Vergouwe M">MN Vergouwe</name></author><author><name sortKey="Van Dijk, Jg" uniqKey="Van Dijk J">JG van Dijk</name></author><author><name sortKey="Rees, M" uniqKey="Rees M">M Rees</name></author><author><name sortKey="Frants, Rr" uniqKey="Frants R">RR Frants</name></author><author><name sortKey="Brown, P" uniqKey="Brown P">P Brown</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chokroverty, S" uniqKey="Chokroverty S">S Chokroverty</name></author><author><name sortKey="Walczak, T" uniqKey="Walczak T">T Walczak</name></author><author><name sortKey="Hening, W" uniqKey="Hening W">W Hening</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chandra, Sr" uniqKey="Chandra S">SR Chandra</name></author><author><name sortKey="Issac, Tg" uniqKey="Issac T">TG Issac</name></author><author><name sortKey="Gayathri, N" uniqKey="Gayathri N">N Gayathri</name></author><author><name sortKey="Gupta, N" uniqKey="Gupta N">N Gupta</name></author><author><name sortKey="Abbas, Mm" uniqKey="Abbas M">MM Abbas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pal, Pk" uniqKey="Pal P">PK Pal</name></author><author><name sortKey="Netravathi, M" uniqKey="Netravathi M">M Netravathi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Newsom Davis, J" uniqKey="Newsom Davis J">J Newsom-Davis</name></author><author><name sortKey="Mills, Kr" uniqKey="Mills K">KR Mills</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chandra, Sr" uniqKey="Chandra S">SR Chandra</name></author><author><name sortKey="Issac, Tg" uniqKey="Issac T">TG Issac</name></author><author><name sortKey="Gayathri, N" uniqKey="Gayathri N">N Gayathri</name></author><author><name sortKey="Shivaram, S" uniqKey="Shivaram S">S Shivaram</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shapiro, Ak" uniqKey="Shapiro A">AK Shapiro</name></author><author><name sortKey="Shapiro, Es" uniqKey="Shapiro E">ES 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><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<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></journal-title-group><issn pub-type="ppub">1817-1745</issn><issn pub-type="epub">1998-3948</issn><publisher><publisher-name>Medknow Publications & Media Pvt Ltd</publisher-name><publisher-loc>India</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28553377</article-id><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></subj-group></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></contrib><contrib contrib-type="author"><name><surname>Vekhande</surname><given-names>Chetan</given-names></name><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></contrib></contrib-group><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></corresp></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><body><sec sec-type="intro" id="sec1-1"><title>I<sc>NTRODUCTION</sc></title><p><italic>T</italic>he word startle' means “to undergo a sudden involuntary movement of the body, caused by surprise, alarm, acute pain, etc.” Startle reaction is a motor response to noxious stimuli which has a stereotyped sudden involuntary movement of the body which habituates. Startle responses can be part of hyperekplexia syndrome, psychogenic, or epileptic startle response. Persistent nonhabituating startle to minor stimuli with hyperalert gaze, inquisitive attention to environment with or without stiffness needs to be viewed with suspicion of hyperekplexia. It is an interesting movement disorder often mistaken 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. Hyperekplexia was first described by Kirstein and Silfverskiold in 1958.[<xref rid="ref1" ref-type="bibr">1</xref>] This is congenital disorder with major and minor forms.[<xref rid="ref2" ref-type="bibr">2</xref>] Major if there are neonatal hypertonia and generalized stiffness, jitteriness, and rhythmic spasms with exaggerated startle response and falls and minor if stiffness is absent. Those with features of involvement of other systems are called as plus syndromes. It occurs as both sporadic and familial forms.[<xref rid="ref3" ref-type="bibr">3</xref>] Persistent primitive reflexes, apneic spells, breath holding attacks, and exaggerated reflexes with normal cognitive and behavioral features is an important clue. Mothers might report excessive shudders and startles in the last trimester of gestation. Although considered benign, fatal complications occur with apneic spells, cardiac arrhythmias, aspiration causing cardiorespiratory arrest, laryngospasm, sudden death due to complications during anesthesia, and use of beta antagonist as well as side effects related to unnecessary treatment related to wrong diagnosis.[<xref rid="ref4" ref-type="bibr">4</xref>] Hyperekplexia plus syndrome is characterized by lymphedema, distichiasis (double eyelashes), atopic dermatitis, cutaneous nevus, kyphoscoliosis, abnormal acetabular, phalanges, brachydactyly, clinodactyly, hypospadias, and also cardiac involvement.</p></sec><sec id="sec1-2"><title>D<sc>IAGNOSIS</sc></title><p>Diagnosis is clinical.[<xref rid="ref5" ref-type="bibr">5</xref>] Falling and stiffness provide clues with normal electroencephalogram (EEG) with or without abnormal blink response, electromyography (EMG) discharges at rest, and genetic factors aid in diagnosis. Tonic neonatal cyanosis relieved by Vigevano maneuver characterized by forced flexion of head and neck toward trunk which is lifesaving during prolonged spasms. Head retraction response consisting of brisk involuntary backward jerk after the root of the nose or upper lip is tapped. In one study among 39 patients studied, 20% had feeding difficulty, 15% had apnea, and 10% had sleep disorders.[<xref rid="ref6" ref-type="bibr">6</xref>]</p><sec id="sec2-1"><title>Pathogenesis and treatment</title><p>Auditory startle reflex originates in the bulbo-pontine reticular formation from nucleus reticularis pontis caudalis. Glycine receptors are concentrated in the brainstem and spinal cord in humans. Second, symptomatic hyperekplexia usually occurs in patients with brainstem damage. The latencies of EMG responses point toward a brainstem origin. The EMG latency of the sternocleidomastoid muscle to taps on the head or face is very short, <20 ms. As the minimum delay in a cortical loop is 22.8 ms, shorter latencies need a shorter loop. Eye movement recordings also suggest a brainstem origin with reduced peak velocity of horizontal saccadic eye movements. Disynaptic reciprocal inhibition was absent in patients with a proven GLRA1 mutation which explains spasticity.</p><p>Mutation in neurotransmitter gene alpha-1 subunit of glycine receptor linked to chromosome 5q 33–35 is found in inherited patients. Other gene loci identified are SLE6A5 encoding presynaptic sodium and chloride-dependent glycine transporter, GLRB encoding beta subunit of glycine receptor, GPHN encoding glycinergic clustering molecule – gephysin, and ARHGEF9 encoding collybistin causing epilepsy in addition.[<xref rid="ref7" ref-type="bibr">7</xref>] Other postulates are excessive neuronal excitation due to interruption of thalamic pathways which inhibit descending pathways.[<xref rid="ref5" ref-type="bibr">5</xref><xref rid="ref8" ref-type="bibr">8</xref>] Delayed maturation of control over brain stem, reticular neuronal hyperactivity as well as neurochemical imbalance between gamma aminobutric acid and excitatory transmitters and missense mutation at FOXC2 gene causing spontaneous receptor channel opening in the absence of an agonist.</p></sec></sec><sec id="sec1-3"><title>D<sc>IFFERENTIAL</sc> D<sc>IAGNOSIS</sc></title><sec id="sec2-2"><title>Myoclonic epilepsy</title><p>Progressive myoclonic epilepsies of children have varying degrees of cognitive decline, cerebellar ataxia, epilepsy, with or without cherry red spots, and abnormal EEG.[<xref rid="ref9" ref-type="bibr">9</xref>]</p></sec><sec id="sec2-3"><title>Psychogenic startle</title><p>Not seen in children below 10 years. It occurs as part of anxiety, malingering, or fictitious movement disorder sudden in onset and quickly reaches peak severity and stops abruptly. Investigations are usually normal.[<xref rid="ref10" ref-type="bibr">10</xref>]</p></sec><sec id="sec2-4"><title>Isaac syndrome</title><p>It characterized by continuous muscle fiber activity due to hyperexcitability at terminal axon causing twitching, cramping, and myokymia which persists in sleep and anesthesia. Even respiratory muscle can be involved.[<xref rid="ref11" ref-type="bibr">11</xref>]</p></sec><sec id="sec2-5"><title>Schwartz–Jampel syndrome</title><p>Patients become symptomatic between 3 and 10 years. The diagnostic findings are typical facial appearance, muscle hypertrophy, pitched voice, and continuous muscle fiber activity. They have slow movements with arms semi-flexed, toe walking in addition to difficulty in opening the mouth. They show myotonia clinically and electrophysiologically.[<xref rid="ref12" ref-type="bibr">12</xref>]</p></sec><sec id="sec2-6"><title>Gilles de la Tourette syndrome</title><p>A syndrome which usually starts before 16 years of age with obsessions–compulsions, involuntary utterances, coprolalia, aggression, and repetitive motor activity which can be voluntarily restrained for some time.[<xref rid="ref13" ref-type="bibr">13</xref>]</p></sec><sec id="sec2-7"><title>Jumping Frenchman of Maine</title><p>First reported by George Miller in 1878. Persons who are generally shy show uncontrollable jumping, yelling, hitting, and aggression of unknown cause. The possibility of genetic disease versus culture-bound tendency is considered.[<xref rid="ref14" ref-type="bibr">14</xref>]</p></sec></sec><sec id="sec1-4"><title>C<sc>ASE</sc> R<sc>EPORT</sc></title><p>We report a 5-year-old male child from Odisha. He was born to nonconsanguineous parents by lower segment cesarean section. Indication reported as dystocia of shoulder. Neonatal period was uneventful but for the need for aspiration of a cystic swelling noticed in the neck. Antenatal experiences not clear, but had first-trimester abortion during previous pregnancy. Child was jittery, always with hyperalert facies, gained milestones normally. When he started walking at 1½ year of age, he was found to excessive jerking of all four limbs to sound, holding objects, resulting in repeated falls and dropping objects which occurred 8–10 times every day. He was investigated regionally and treated with multiple anticonvulsants with no benefit. At the time of examination, child was bright and cooperative. He had minor dysmorphic features in the form of high arched palate, prominent ears, flat bridge of nose, small eyes, malformation of both hands in the form of undue separation of middle thumb and index finger with deformity, and scoliosis. He manifested with repeated falls with retained consciousness. The movements were sudden spontaneous or precipitated by sound or actions with tilting of trunk and flexion of limbs [<xref ref-type="supplementary-material" rid="SD1">Video 1</xref>]. Possibility of hyperekplexia plus syndrome was considered and investigated. X-ray of the hand showed increased space between metacarpal bones and deformity of phalanges [<xref ref-type="fig" rid="F1">Figure 1</xref>]. His magnetic resonance imaging and EEG done from Odisha were normal. We investigated him with neurometabolic workup, autoantibody profile for NMDA, VGKC, GAD, CK, and long loop reflexes which were noncontributory. Somatosensory evoked responses showed giant somatosensory evoked potentials and normal c reflex [Figure <xref ref-type="fig" rid="F2">2a</xref> and <xref ref-type="fig" rid="F2">b</xref>]. Genetic tests were not done due to the financial constraints. The antiepileptic drugs (AEDs) were withdrawn and child treated with 0.2 mg per kg of clonazepam and child showed complete arrest of falls over a week time [<xref ref-type="supplementary-material" rid="SD2">Video 2</xref>].</p><fig id="F1" position="float"><label>Figure 1</label><caption><p>X-ray hand showing increased space between the metacarpal bones and deformity of the phalanges (regret: technician hand artifact)</p></caption><graphic xlink:href="JPN-12-36-g001"></graphic></fig><fig id="F2" position="float"><label>Figure 2</label><caption><p>(a) somatosensory evoked response of median nerve showing somatosensory evoked potentials of latency 16.7 ms (b) showing normal C reflex</p></caption><graphic xlink:href="JPN-12-36-g002"></graphic></fig><supplementary-material content-type="local-data" id="SD1"><media mimetype="video" mime-subtype="mp4" xlink:href="JPN-12-36-v001.mp4" xlink:type="simple" id="d35e271" position="anchor"></media></supplementary-material><supplementary-material content-type="local-data" id="SD2"><media mimetype="video" mime-subtype="mp4" xlink:href="JPN-12-36-v002.mp4" xlink:type="simple" id="d35e273" position="anchor"></media></supplementary-material></sec><sec sec-type="discussion" id="sec1-5"><title>D<sc>ISCUSSION</sc></title><p>Our patient suffered from pathological startle syndrome from very early infancy with skeletal changes and mild dysmorphism. He did not show any response to polypharmacy with multiple AEDs tried over 3 years but showed excellent remission with clonazepam and all other drugs could be withdrawn. Although relatively benign, fatal complications are known and need a high degree of suspicion which will save the child from unwanted medications.</p></sec><sec sec-type="conclusions" id="sec1-6"><title>C<sc>ONCLUSION</sc></title><p>Recognition of this syndrome is of great significance in avoiding unnecessary interventions. Simple methods such as Vigevano maneuver is lifesaving during periods of prolonged spasm and clonazepam 0.5–0.2 mg/kg controls falls in most cases. However, the hyperekplexia plus syndrome is extremely rare and mostly sporadic and occasionally genetic studies need to be done attention to other system-related complications.</p></sec><sec sec-type="supplementary-material"><title>Videos Available on: <ext-link ext-link-type="uri" xlink:href="www.pediatricneurosciences.com">www.pediatricneurosciences.com</ext-link></title><sec id="sec2-8"><title>Financial support and sponsorship</title><p>Nil.</p></sec><sec id="sec2-9" sec-type="COI-statement"><title>Conflicts of interest</title><p>There are no conflicts of interest.</p></sec></sec></body><back><ref-list><title>R<sc>EFERENCES</sc></title><ref id="ref1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kirstein</surname><given-names>L</given-names></name><name><surname>Silfverskiold</surname><given-names>BP</given-names></name></person-group><article-title>A family with emotionally precipitated drop 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