{"orpha":99802,"name":"Hemimegalencephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Unilateral megalencephaly"],"definition":"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99802/","orphanet_url":"https://www.orpha.net/en/disease/detail/99802","names":{"fr":{"name":"Hémimégalencéphalie","synonyms":["Mégalencéphalie unilatérale"],"definition":"Malformation cérébrale rare caractérisée par une croissance excessive de l'hémisphère cérébral ou d'une partie de celui-ci, souvent accompagnée d'une dysplasie ou d'une dysgénésie corticale sévère ipsilatérale, d'une hypertrophie de la substance blanche et d'une dilatation du ventricule latéral, se manifestant dans la petite enfance par une hémiparésie progressive, un retard psychomoteur sévère et des crises convulsives irrépressibles. L'hémimégalencéphalie peut être isolée ou associée à d'autres syndromes tels que le syndrome angio-ostéo-hypertrophique, le syndrome du nævus épidermique et hypopigmentation cutanée. La prise en charge repose sur le contrôle des crises par des médicaments antiépileptiques et une hémisphérectomie précoce."},"de":{"name":"Hemimegalenzephalie","synonyms":["Megalenzephalie, unilaterale"]},"es":{"name":"Hemimegalencefalia","synonyms":["Megalencefalia unilateral"],"definition":"Es una malformación cerebral poco frecuente caracterizada por un crecimiento excesivo de la totalidad o parte de un hemisferio cerebral, a menudo con displasia o disgenesia cortical grave ipsilateral, hipertrofia de la sustancia blanca y dilatación del ventrículo lateral, que se manifiesta en la primera infancia como hemiparesia progresiva, retraso psicomotor grave y crisis epilépticas intratables. La hemimegalencefalia puede ser un hallazgo aislado o asociado a otros síndromes como el síndrome angioosteohipertrófico, el síndrome del nevus epidérmico y la hipomelanosis de Ito. El manejo incluye el control de las crisis con medicamentos anticonvulsivantes y hemisferectomía temprana."},"it":{"name":"Emimegalencefalia","synonyms":["Megalencefalia monolaterale"]},"nl":{"name":"Hemimegalencefalie","synonyms":["Unilaterale megalencefalie"],"definition":"Hemimegalencefalie is een zeldzame hersenafwijking die gekenmerkt wordt door overmatige groei van de volledige of een deel van een hersenhelft, vaak met ipsilaterale ernstige corticale dysplasie of dysgenesie, hypertrofie van de witte materie en verwijd lateraal ventrikel, en die zich vroeg in de eerste levensjaren presenteert met progressieve hemiparese, ernstige psychomotorische achterstand en onbehandelbare epileptische aanvallen. Hemimegalencefalie kan een geïsoleerd verschijnsel zijn of geassocieerd zijn met andere syndromen zoals angio-osteohypertrofisch syndroom, epidermale naevussyndroom en Ito-hypomelanosis (zie deze termen). Management houdt controle van de aanvallen door anti-epileptische medicatie en vroege hemisferectomie in."},"pt":{"name":"Megalencefalia unilateral"},"pl":{"name":"Hemimegaencefalia","synonyms":["Megaencefalia jednostronna"]},"cs":{"name":"Hemimegalencefalie","synonyms":["Unilaterální megalencefalie"]},"uk":{"name":"Гемімегаленцефалія","synonyms":["Одностороння мегаленцефалія"],"definition":"Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy."},"zh":{"name":"半侧巨脑畸形","synonyms":["单侧巨脑畸形"],"definition":"半侧巨脑症是一种罕见的脑畸形，以大脑半球全部或部分过度生长为特征，常伴有同侧严重皮质发育不良或发育不全、白质肥大和侧脑室扩张，在婴幼儿早期表现为进行性偏瘫、严重的精神运动发育迟缓和顽固性癫痫发作。半侧巨脑症可能是一个孤立的发现，也可能与其他综合征相关，如血管骨质增生综合征、表皮痣综合征和伊藤色素减少症(见该类术语)。治疗手段包括通过抗癫痫药物和早期大脑半球切除术控制癫痫发作。"},"tr":{"name":"Hemimegalensefali","synonyms":["Unilateral megalensefali"]}},"xrefs":[{"source":"ICD-10","code":"Q04.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"961229160"},{"source":"MONDO","code":"0020492","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065705","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431391","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2637","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078100","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]},{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]}],"children":[],"genes":[{"symbol":"AKT3","name":"AKT serine/threonine kinase 3","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22500628[PMID]","hgnc":"393","ensembl":"ENSG00000117020","omim":"611223","loci":["1q43-q44"]},{"symbol":"MTOR","name":"mechanistic target of rapamycin kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"32140648[PMID]","hgnc":"3942","ensembl":"ENSG00000198793","omim":"601231","loci":["1p36.22"]},{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22729223[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-11","source":"25296542[PMID]_16821075[PMID]_30677308[PMID]","terms":[{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000267","label":"Cranial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010851","label":"EEG with burst suppression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011195","label":"EEG with focal sharp slow waves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032046","label":"Focal cortical dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011215","label":"Hemihypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007206","label":"Hemimegalencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012757","label":"Abnormal neuron morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011167","label":"Focal tonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null}]}}