Images in Paediatrics
Epileptic seizure or parasomnia? From knowledge to recognition. Sleep-related hypermotor epilepsy
¿Crisis epiléptica o parasomnia? Del conocimiento a la identificación. Epilepsia hipermotora asociada al sueño
Ana Cristóvão Ferreiraa,
, Joana Moniz Dionísiob, Rosário Ferreirac,d, Joana Coelhoe
Corresponding author
a Servicio de Pediatría, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisboa, Portugal
b Servicio de Neurología, Hospital Professor Doutor Fernando Fonseca, Lisboa, Portugal
c Unidad de Pulmonología Pediátrica, Servicio de Pediatría, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisboa, Portugal
d Facultad de Medicina, Universidade de Lisboa, Lisboa, Portugal
e Unidad de Neuropediatría, Servicio de Pediatría, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisboa, Portugal
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Del conocimiento a la identificación. Epilepsia hipermotora asociada al sueño" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">A male patient aged 16 years with no relevant personal or family history presented with nocturnal paroxysmal events (NPEs) characterized by stereotyped hyperkinetic movements, eye opening and production of guttural sounds during sleep, with onset at age 7 years. Due to the increasing frequency of NPEs, he was referred to the sleep laboratory for assessment of suspected parasomnia. An event compatible with an epileptic seizure (stereotyped hyperkinetic movements associated with epileptiform discharges on the electroencephalogram [EEG]) was detected during a video-EEG polysomnography. The findings of the routine electroencephalogram and head MRI were normal. The next-generation sequencing panel for sleep-related hypermotor epilepsy (SHE) was negative. The NPEs resolved after initiation of treatment with carbamazepine.</p><p id="par0010" class="elsevierStylePara elsevierViewall">Sleep-related hypermotor epilepsy is a rare disease that is more frequent in males and usually with onset in childhood or adolescence.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> The seizures are brief, hyperkinetic, with possible tonic/dystonic movements, and associated with sleep, occurring less frequently during daytime.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3</span></a> Their frequency can range from 1 to 20 episodes per night, affecting performance in daily activities.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The diagnosis is based on the anamnesis and the clinical features, since the EEG features are often normal or obscured by muscle artifacts and the findings of neuroimaging may be normal, too, the family history is often negative, and a genetic aetiology is rarely found in sporadic cases.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It is frequently misdiagnosed as a non-rapid eye movement parasomnia due to the high prevalence of these parasomnias in childhood.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> A sleep video recording is essential for correct diagnosis, which has an impact on the patient’s quality of life.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Description of the video</span><p id="par0020" class="elsevierStylePara elsevierViewall">The video recording obtained during polysomnography showed the patient having one of his typical events on the N3 stage of sleep, characterized by stereotyped, hyperkinetic movements, with eye opening and guttural sounds. We observed epileptiform discharges originating in the right centro-frontal region that propagated to the left frontal region.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Funding</span><p id="par0025" class="elsevierStylePara elsevierViewall">There were no external funding sources for the development of this paper.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Description of the video" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Funding" ] 2 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005"><span class="elsevierStyleBold">Previous meeting:</span> This clinical case was presented as a poster at the XXVII Jornadas de Pediatria, Hospital de Santa Maria, February 24–25, 2022, Lisbon, Portugal.</p>" ] ] "apendice" => array:1 [ 0 => array:1 [ "seccion" => array:1 [ 0 => array:4 [ "apendice" => "<p id="par0040" class="elsevierStylePara elsevierViewall">The following is Supplementary data to this article:<elsevierMultimedia ident="upi0005"></elsevierMultimedia></p>" "etiqueta" => "Appendix A" "titulo" => "Supplementary data" "identificador" => "sec0025" ] ] ] ] "multimedia" => array:1 [ 0 => array:5 [ "identificador" => "upi0005" "tipo" => "MULTIMEDIAECOMPONENTE" "mostrarFloat" => false "mostrarDisplay" => true "Ecomponente" => array:3 [ "fichero" => "mmc1.mp4" "ficheroTamanyo" => 14179395 "Video" => array:2 [ "flv" => array:5 [ "fichero" => "mmc1.flv" "poster" => "mmc1.jpg" "tiempo" => 0 "alto" => 0 "ancho" => 0 ] "mp4" => array:5 [ "fichero" => "mmc1.m4v" "poster" => "mmc1.jpg" "tiempo" => 0 "alto" => 0 "ancho" => 0 ] ] ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sleep-related hypermotor epilepsy: prevalence, impact and management strategies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "V. Menghi" 1 => "F. Bisulli" 2 => "P. Tinuper" 3 => "L. Nobili" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.2147/NSS.S152624" "Revista" => array:6 [ "tituloSerie" => "Nat Sci Sleep." "fecha" => "2018" "volumen" => "10" "paginaInicial" => "317" "paginaFinal" => "326" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30349413" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Definition and diagnostic criteria of sleep-related hypermotor epilepsy" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "P. Tinuper" 1 => "F. Bisulli" 2 => "J.H. Cross" 3 => "D. Hesdorffer" 4 => "P. Kahane" 5 => "L. Nobili" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1212/WNL.0000000000002666" "Revista" => array:6 [ "tituloSerie" => "Neurology." "fecha" => "2016" "volumen" => "86" "paginaInicial" => "1834" "paginaFinal" => "1842" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27164717" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sleep-related hypermotor epilepsy: a prediction cohort study on sleep/wake patterns of seizures" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L. Licchetta" 1 => "L. Vignatelli" 2 => "C. Zenesini" 3 => "B. Mostacci" 4 => "L. Ferri" 5 => "F. Provini" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Epilepsia." 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