{"orpha":363549,"name":"Acute encephalopathy with biphasic seizures and late reduced diffusion","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AESD","AIEF","Acute infantile encephalopathy predominantly affecting the frontal lobes"],"definition":"A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363549/","orphanet_url":"https://www.orpha.net/en/disease/detail/363549","names":{"fr":{"name":"Encéphalopathie aiguë du lobe frontal liée à la fièvre","synonyms":["AESD","AIEF"],"definition":"Un syndrome épileptique rare survenant pendant l'enfance et associé à une infection, caractérisé par une évolution clinique biphasique. Le symptôme initial est constitué par des convulsions fébriles prolongées le premier jour (première phase). Les patients présentent ensuite des états variables de conscience, allant d'une conscience normale à un état comateux. Indépendamment du degré de conscience, l'imagerie magnétique par résonance (IRM) ne révèle pas d'anomalie pendant les deux premiers jours de la maladie. Au cours de la seconde phase (généralement les jours 4-6), les patients présentent un ensemble de convulsions et une détérioration de la conscience. Les images pondérées en diffusion (IPD) à l'IRM révèlent des lésions cérébrales avec une diffusion réduite surtout au niveau de la substance blanche sous-corticale. Après la deuxième phase aigüe, le niveau de conscience s'améliore avec l'émergence de signes neurologiques focaux."},"de":{"name":"Akute Enzephalopathie mit biphasischen Krämpfen und spät reduzierter Diffusion","synonyms":["AESD","AIEF","Akute infantile Enzephalopathie mit vorwiegender Beteiligung der Frontallappen"],"definition":"Ein seltenes Epilepsiesyndrom im Kindesalter, das mit einer Infektion assoziiert ist und durch einen biphasischen klinischen Verlauf gekennzeichnet ist. Das erste Symptom ist ein verlängerter fieberhafter Anfall an Tag 1 (die erste Phase). Danach haben die Patienten variable Bewusstseinszustände von normal bis zum Koma. Unabhängig von den Bewusstseinszuständen zeigt die Magnetresonanztomographie (MRT) während der ersten 2 Tage keine Auffälligkeiten. In der zweiten Phase (in der Regel an den Tagen 4 - 6) zeigen die Patienten eine Häufung von Krampfanfällen und eine Verschlechterung des Bewusstseins. Die diffusionsgewichteten Bilder (DWI) im MRT zeigen die Hirnläsionen mit reduzierter Diffusion vorwiegend in der subkortikalen weißen Substanz. Nach der zweiten akuten Phase verbessern sich die Bewusstseinswerte mit den auftretenden fokalen neurologischen Zeichen. Die neurologischen Folgen von AESD variieren von normal bis hin zu leichten oder schweren Folgeerscheinungen wie zerebrale Atrophie, Intelligenzminderung, Lähmungen und Epilepsie."},"es":{"name":"Encefalopatía aguda con convulsiones bifásicas y difusión reducida tardía","synonyms":["AESD","AIEF","Encefalopatía aguda infantil con afección principal de los lóbulos frontales"],"definition":"Es un síndrome epiléptico poco frecuente de inicio en la infancia asociado a infección y caracterizado por un curso clínico bifásico. El síntoma inicial es una convulsión febril prolongada en el día 1 (primera fase). Posteriormente, los pacientes presentan un nivel de conciencia que varía desde normal hasta coma. Independientemente del nivel de conciencia, la resonancia magnética (RM) durante los 2 primeros días no muestran anomalías. Durante la segunda fase (generalmente los días 4 a 6), los pacientes presentan un acúmulo de convulsiones y deterioro del nivel de conciencia. Las imágenes ponderadas en difusión (DWI) en la RM muestran lesiones cerebrales con difusión reducida predominantemente en la sustancia blanca subcortical. Después de la segunda fase aguda, el nivel de conciencia mejora, con signos neurológicos focales emergentes. Las consecuencias neurológicas de la AESD varían desde la normalidad a secuelas leves o graves, que incluyen atrofia cerebral, discapacidad intelectual, parálisis y epilepsia."},"it":{"name":"Encefalopatia acuta con convulsioni bifasiche e ridotta diffusione tardiva","synonyms":["AESD","AIEF","Encefalopatia infantile acuta con coinvolgimento prevalente dei lobi frontali"],"definition":"L'encefalopatia acuta con convulsioni bifasiche e ridotta diffusione tardiva (AESD) è un'epilessia rara ad esordio infantile, associata a un'infezione e caratterizzata da un decorso clinico bifasico. Il segno d'esordio sono le convulsioni febbrili protratte che compaiono nella prima giornata (prima fase). Successivamente, i pazienti presentano vari livelli di coscienza, da quella normale al coma. Indipendentemente dal livello di coscienza, la risonanza magnetica (RMN) eseguita nei primi due giorni non evidenzia nessuna anomalia. Nella seconda fase (tra il quarto e il sesto giorno), i pazienti presentano crisi epilettiche raggruppate e un deterioramento dello stato di coscienza. Le immagini pesate in diffusione (DWI) della RMN evidenziano lesioni cerebrali con riduzione della diffusione, in particolare nella sostanza bianca sottocorticale. Dopo la seconda fase acuta, i livelli di coscienza migliorano ed insorgono segni neurologici focali. Dal punto di vista neurologico, la malattia può avere un esito favorevole oppure comportare sequele lievi o gravi (atrofia cerebrale, ritardo mentale, paralisi ed epilessia)."},"nl":{"name":"Acute encefalopathie met bifasische insulten en late gereduceerde diffusie","synonyms":["AESD","AIEF","Acute infantiele encefalopathie die voornamelijk frontale kwabben treft"],"definition":"Een zeldzaam epilepsiesyndroom met aanvang in de kindertijd, geassocieerd met infectie en gekarakteriseerd door een bifasisch klinisch verloop. Het initiële symptoom is een langdurig febriel insult op dag 1 (de eerste fase). Nadien vertonen patiënten variabele bewustzijnsniveaus, gaande van normaal tot comateus. Ongeacht het bewustzijnsniveau, toont beeldvorming met magnetische resonantie (MRI) tijdens de eerste 2 dagen geen afwijking. Tijdens de tweede fase (meestal dag 4-6) vertonen patiënten een cluster van insulten en achteruitgang van het bewustzijn. Diffusie-gewogen beeldvorming (DWI) met magnetische resonantie toont de hersenletsels met verminderde diffusie voornamelijk in de subcorticale witte stof. Na de tweede acute fase verbetert het bewustzijnsniveau met het verschijnen van focale neurologische tekenen. De neurologische uitkomst van AESD varieert, gaande van normaal tot milde of zelfs ernstige restverschijnselen waaronder cerebrale atrofie, mentale retardatie, verlamming en epilepsie."},"pt":{"name":"Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia"},"pl":{"name":"Ostra encefalopatia z napadami dwufazowymi i późną rozlaną dyfuzją","synonyms":["AESD","AIEF","Ostra encefalopatia dziecięca dotyczaca głównie płatów czołowych"]},"cs":{"name":"Akutní encefalopatie s bifázickými záchvaty s pozdní restrikcí difuze v bílé hmotě dle MRI","synonyms":["AESD","AIEF","Akutní kojenecká encefalopatie predominantně postihující frontální laloky"]},"uk":{"name":"Гостра енцефалопатія з двофазними судомними нападами та пізньою зниженою дифузією","synonyms":["Гостра дитяча енцефалопатія з переважним ураженням лобових часток","AESD","AIEF"],"definition":"A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy."},"zh":{"name":"急性脑病伴双相性癫痫和迟发性弥散减少","synonyms":["主要影响额叶的急性婴儿脑病"],"definition":"本病是一种少见的儿童期癫痫综合征，与感染有关，以双相临床病程为特征。首发症状是第一天(第一阶段)持续发烧发作，其后患者的意识水平从正常到昏迷各不相同。无论意识水平如何，头两天的磁共振成像(MRI)均未显示异常。在第二阶段(通常是4-6天)，患者表现出一连串的癫痫发作和意识恶化。磁共振弥散加权成像(DWI)显示脑部病变弥散减少，主要位于皮质下白质。在第二个急性期之后，意识水平随着新出现的局灶性神经体征而改善。AESD的神经学结果从正常到轻度或严重的后遗症，包括脑萎缩、智力低下、瘫痪和癫痫。"},"tr":{"name":"Bifazik nöbet ve geç azalmış difüzyon ile seyreden akut ensefalopati","synonyms":["AESD","AIEF","Ağırlıklı olarak frontal lobları etkileyen akut infantil ensefalopati"]}},"xrefs":[{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018198","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707658","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":363567,"name":"Acute encephalopathy with inflammation-mediated status epilepticus","classifications":[181]}],"children":[],"genes":[{"symbol":"ADORA2A","name":"adenosine A2a receptor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23535492[PMID]","hgnc":"263","ensembl":"ENSG00000128271","omim":"102776","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":283.0,"area":"Worldwide","status":"Validated","source":"21924570[PMID]_23772250[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-11","source":"32001378[PMID]_30327157[PMID]_29725488[PMID]_32829972[PMID]","terms":[{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012705","label":"Abnormal metabolic brain imaging by MRS","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011172","label":"Complex febrile seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007103","label":"Hypointensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032308","label":"Increased circulating procalcitonin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033349","label":"Seizure cluster","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032894","label":"Seizure precipitated by febrile infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031691","label":"Severe viral infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031475","label":"Status epilepticus without prominent motor symptoms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007738","label":"Uncontrolled eye movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011665","label":"Takotsubo cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}