{"orpha":139444,"name":"Leukoencephalopathy with bilateral anterior temporal lobe cysts","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139444/","orphanet_url":"https://www.orpha.net/en/disease/detail/139444","names":{"fr":{"name":"Leucoencéphalopathie avec kystes bilatéraux de la partie antérieure du lobe temporal","definition":"La leucoencéphalopathie avec kystes bilatéraux de la partie antérieure du lobe temporal est une maladie neurologique non progressive caractérisée par un déficit intellectuel, une spasticité et un retard de motricité. Les images typiques à l'IRM cérébrale mettent en évidence l'existence de kystes bilatéraux au niveau du lobe temporal antérieur et une leucoencéphalopathie multilobale. A ce jour, environ 30 cas ont été rapportés dans la littérature. La maladie apparaît dans les premiers mois de la vie. Une surdité neurosensorielle et une microcéphalie peuvent également survenir. L'étiologie est inconnue mais un mode de transmission autosomique récessif a été suggéré."},"de":{"name":"Leukoenzephalopathie mit beiderseitigen vorderen Temporallappen-Zysten","definition":"Die Krankheit ist eine nicht-progrediente neurologische Erkrankung mit intellektuellem Defizit, Spastik und motorischer Retardierung. Charakteristische MRI-Befunde sind beiderseitige vordere Temporallappen-Zysten und multilobäre Leukenzephalopathie."},"es":{"name":"Leucoencefalopatía con quistes anteriores y bilaterales en el lóbulo temporal","definition":"Esta enfermedad es un trastorno neurológico no progresivo y poco frecuente, caracterizado por déficit intelectual, espasticidad y retraso motor asociado a hallazgos característicos de Resonancia Magnética Nuclear (RMN) en forma de quistes bilaterales y anteriores del lóbulo temporal, así como de leucoencefalopatía multilobular. Se han descrito alrededor de 30 casos en la literatura hasta la actualidad. Su aparición se da en los primeros meses de vida. También se han descrito casos con sordera neurosensorial y microcefalia. Se desconoce la etiología, aunque se ha sugerido un patrón hereditario autosómico recesivo."},"it":{"name":"Leucoencefalopatia con cisti bilaterali dei lobi temporali anteriori"},"nl":{"name":"Leuko-encefalopathie met bilaterale anterieure temporaalkwabcysten","definition":"Een zeldzame, niet-progressieve, neurologische aandoening, gekarakteriseerd door intellectuele achterstand, spasticiteit en motorische achterstand geassocieerd met typische MRI-bevindingen van bilaterale aanwezigheid van cysten in de anterieure temporale kwabben en multilobaire leuko-encefalopathie. Tot op heden werden ongeveer 30 gevallen gerapporteerd in de literatuur. Aanvang vindt plaats in de eerste levensmaanden. Sensorineurale doofheid en microcefalie werden ook gerapporteerd. De etiologie is niet gekend maar er werd een autosomaal recessieve overerving gesuggereerd."},"pt":{"name":"Leucoencefalopatia com quistos bilaterais do lobo temporal anterior"},"pl":{"name":"Leukoencefalopatia z obustronnymi torbielami przedniego płata skroniowego"},"cs":{"name":"Leukoencefalopatie s bilaterálními cystami přední části temporálního laloku"},"uk":{"name":"Лейкоенцефалопатія з двобічними кістами передньої скроневої частки","definition":"A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested."},"zh":{"name":"脑白质病伴双侧颞叶前叶囊肿","definition":"一种罕见非进展性神经系统疾病，其特征是智力缺陷、痉挛和运动迟缓，伴双侧颞叶前囊肿和多叶脑白质病的特征MRI表现。目前为止，文献报道了约30例。在生命最初几个月起病。感音神经性聋和小头畸形也有报道。病因不明，但已提出常染色体隐性遗传模式。"},"tr":{"name":"Bilateral anterior temporal lob kist ile seyreden lökoensefalopati"}},"xrefs":[{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"138159250"},{"source":"MONDO","code":"0015348","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304744","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2019-07-17","source":"15626547[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010576","label":"Intracranial cystic lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}