{"orpha":86908,"name":"Hemiconvulsion-hemiplegia-epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IHHS","HHE","HHE syndrome"],"definition":"A rare childhood-onset epilepsy syndrome characterized by hemiplegia occurring in children (typically under the age of 4) following prolonged focal seizures, often febrile in nature. The condition progresses through three stages: initial prolonged seizures, subsequent hemiplegia (weakness or paralysis on one side of the body), and eventual epilepsy, following a latent period. The condition may be idiopathic or associated with structural, infectious, traumatic, or degenerative brain abnormalities. Patients present with acute unilateral brain swelling, followed by cerebral hemiatrophy. Inflammation, genetic predisposition, and prolonged seizure activity may play a role in the disease development/progression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86908/","orphanet_url":"https://www.orpha.net/en/disease/detail/86908","names":{"fr":{"name":"Syndrome d'hémiconvulsion-hémiplégie-épilepsie","synonyms":["HHE","SHHEI","Syndrome HHE"],"definition":"Syndrome épileptique rare de l'enfance caractérisé par une hémiplégie survenant chez les enfants (généralement âgés de moins de 4 ans) à la suite de crises focales prolongées, souvent de nature fébrile. La maladie évolue en trois étapes : crises initiales prolongées, hémiplégie subséquente (faiblesse ou paralysie d'un côté du corps) et enfin épilepsie, survenant après une période de latence. La maladie peut être idiopathique ou associée à des lésions cérébrales structurelles, infectieuses, traumatiques ou dégénératives. Les patients présentent un gonflement unilatéral du cerveau suivi d'une hémiatrophie cérébrale. L'inflammation, la prédisposition génétique et l'activité épileptique prolongée peuvent jouer un rôle dans le développement et la progression de la maladie."},"de":{"name":"Hemikonvulsion-Hemiplegie-Epilepsie-Syndrom","synonyms":["HHE-Syndrom","IHHS"],"definition":"Ein seltenes Epilepsiesyndrom im Kindesalter, das durch Hemiplegie gekennzeichnet ist, die bei Kindern (in der Regel unter 4 Jahren) nach längeren fokalen Anfällen auftritt, die oft fiebriger Natur sind. Die Erkrankung durchläuft drei Stadien: anfängliche verlängerte Anfälle, anschließende Hemiplegie (Schwäche oder Lähmung auf einer Körperseite) und schließlich Epilepsie nach einer Latenzzeit. Die Erkrankung kann idiopathisch sein oder mit strukturellen, infektiösen, traumatischen oder degenerativen Hirnanomalien einhergehen. Die Patienten zeigen eine akute einseitige Hirnschwellung, gefolgt von einer zerebralen Hemiatrophie. Entzündungen, genetische Veranlagung und anhaltende Anfallsaktivität können bei der Entwicklung/Progression der Krankheit eine Rolle spielen."},"es":{"name":"Síndrome de hemiconvulsión-hemiplejia-epilepsia","synonyms":["HHE","IHHS","Síndrome HHE"],"definition":"Es un síndrome epiléptico poco frecuente de inicio en la infancia caracterizado por hemiplejía que se presenta en niños (generalmente menores de 4 años) tras crisis focales prolongadas, a menudo de naturaleza febril. La afección progresa en tres fases: crisis iniciales prolongadas, hemiplejía posterior (debilidad o parálisis en un lado del cuerpo) y, finalmente, epilepsia, tras un período de latencia. La afección puede ser idiopática o estar asociada a anomalías cerebrales estructurales, infecciosas, traumáticas o degenerativas. Los pacientes presentan edema cerebral unilateral agudo, seguido de hemiatrofia cerebral. La inflamación, la predisposición genética y la actividad convulsiva prolongada pueden influir en el desarrollo/progresión de la enfermedad."},"it":{"name":"Sindrome emiconvulsione-emiplegia-epilessia","synonyms":["IHHS","Sindrome HHE","HHE"],"definition":"Si tratta di un'encefalopatia acuta rara, con stato epilettico mediato dall'infiammazione, caratterizzata da epilessia prevalentemente clonica monolaterale refrattaria ad esordio infantile, che si manifesta durante o poco dopo un episodio febbrile, in assenza di evidenze di un'infezione del sistema nervoso centrale, seguita da emiplegia permanente o transitoria della durata minima di una settimana. Pochi mesi dopo, la maggior parte dei bambini sviluppa un'epilessia farmaco-resistente. Le neuroimmagini evidenziano l'edema dell'emisfero interessato al momento dello stato epilettico iniziale, seguito dall'emiatrofia, che non correla con alcun distretto vascolare."},"nl":{"name":"Hemiconvulsie - hemiplegie - epilepsie-syndroom","synonyms":["HHE","HHE-syndroom","IHHS"],"definition":"Een zeldzaam epilepsiesyndroom met aanvang in de kindertijd, gekenmerkt door hemiplegie die optreedt bij kinderen (doorgaans jonger dan 4 jaar) na langdurige focale insulten, vaak febriel van aard. Progressie van de aandoening verloopt via drie stadia: initiële langdurige insulten, vervolgens hemiplegie (zwakte of verlamming aan één zijde van het lichaam), en tot slot epilepsie na een latente periode. De aandoening kan idiopathisch zijn, of geassocieerd met structurele, infectieuze, traumatische of degeneratieve hersenafwijkingen. Patiënten presenteren zich met acute unilaterale zwelling van de hersenen, gevolgd door cerebrale hemiatrofie. Inflammatie, genetische predispositie, en langdurige insulten spelen mogelijk een rol in de ontwikkeling/progressie van de ziekte."},"pt":{"name":"Síndrome de hemiconvulsão-hemiplegia-epilepsia","synonyms":["HHE","IHHS","Síndrome HHE","Síndrome de hemiconvulsão-hemiplegia-epilepsia"]},"pl":{"name":"Idiopatyczny zespół z drgawkami połowiczymi i porażeniem połowiczym","synonyms":["IHHS","Zespół HHE","Zespół padaczkowy z drgawkami połowiczymi i porażeniem połowiczym"]},"cs":{"name":"Idiopatický syndrom hemikonvulze a hemiplegie","synonyms":["HHE syndrom","Syndrom zahrnující hemikonvulzi, hemiplegii a epilepsii","IHHS"]},"uk":{"name":"Синдром ідіопатичної геміконвульсії-геміплегії","synonyms":["Синдром геміконвульсій-геміплегії-епілепсії","Синдром HHE","IHHS"],"definition":"A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory."},"zh":{"name":"特发性偏侧惊厥-偏瘫综合征","synonyms":["偏侧惊厥-偏瘫-癫痫综合征"]},"tr":{"name":"İdiyopatik hemikonvülsiyon-hemipleji sendromu","synonyms":["IHHS","HHE sendromu","Hemikonvülsiyon-hemipleji-epilepsi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"677418627"},{"source":"MONDO","code":"0019485","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0549118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98259,"name":"Childhood-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}