{"orpha":436271,"name":"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436271/","orphanet_url":"https://www.orpha.net/en/disease/detail/436271","names":{"fr":{"name":"Leucoencéphalopathie cavitaire postérieure non progressive-neuropathie périphérique","definition":"Maladie mitochondriale rare caractérisée par un schéma IRM distinctif de leucodystrophie cavitaire, principalement dans la région postérieure des hémisphères cérébraux. Le tableau clinique est très variable, allant d'une décompensation neurométabolique aiguë dans la petite enfance avec absence des stades du développement moteur, des crises convulsives et atteintes pyramidales évoluant rapidement vers une tétraparésie spastique, à des atteintes neurologiques légères apparaissant à l'adolescence. La maladie tend à se stabiliser avec le temps chez la plupart des patients, et on observe une récupération marquée des étapes de développement moteur."},"de":{"name":"Non-progressive vorwiegend posteriore kavitierende Leukenzephalopathie mit peripherer Neuropathie","definition":"Eine seltene mitochondriale Erkrankung, die durch ein ausgeprägtes MRT-Muster einer kavitierenden Leukodystrophie gekennzeichnet ist, die sich vorwiegend in der hinteren Region der Großhirnhemisphären zeigt. Das klinische Bild ist sehr vaiabel und reicht von einer akuten neurometabolischen Dekompensation im Säuglingsalter mit Entwicklungsstörungen, Krampfanfällen und Pyramidenzeichen, die sich rasch zu einer spastischen Tetraparese entwickeln, bis zu subtilen neurologischen Symptomen im Jugendalter. Bei den meisten Patienten stabilisiert sich der Krankheitsverlauf im Laufe der Zeit, und es kann eine deutliche Erholung der Entwicklungsschritte beobachtet werden."},"es":{"name":"Leucoencefalopatía cavitada predominantemente posterior no progresiva con neuropatía periférica","definition":"Es una enfermedad mitocondrial poco frecuente caracterizada por un patrón de resonancia magnética típico de leucodistrofia cavitada, predominantemente en la región posterior de los hemisferios cerebrales. El cuadro clínico varía ampliamente desde una descompensación neurometabólica aguda en la lactancia con pérdida de hitos del desarrollo, crisis epilépticas y signos piramidales que progresan rápidamente a tetraparesia espástica, hasta síntomas neurológicos leves que debutan en la adolescencia. En la mayoría de los pacientes, el curso de la enfermedad tiende a estabilizarse con el tiempo, y puede observarse una recuperación significativa de los hitos del desarrollo."},"it":{"name":"Leucoencefalopatia cavitante prevalentemente posteriore non progressiva con neuropatia periferica","definition":"Si tratta di una malattia mitocondriale rara, caratterizzata da leucodistrofia cavitante, evidente alla RMN, che interessa prevalentemente la regione posteriore degli emisferi cerebrali. Il quadro clinico varia tra lo scompenso neurometabolico acuto nella prima infanzia con mancata acquisizione delle prime tappe dello sviluppo, le crisi epilettiche e i segni piramidali che evolvono rapidamente verso la tetraparesi spastica, e i sintomi neurologici sfumati che esordiscono nell'adolescenza. Nella maggior parte dei pazienti, il decorso della malattia tende a stabilizzarsi nel tempo, ed è possibile un significativo recupero delle principali tappe dello sviluppo."},"nl":{"name":"Niet-progressieve voornamelijk posterieur caviterende leuko-encefalopathie met perifere neuropathie","definition":"Een zeldzame mitochondriale aandoening, gekarakteriseerd door een typisch MRI-patroon van caviterende leukodystrofie, hoofdzakelijk in de posterieure regio van cerebrale hemisferen. Het klinisch beeld varieert sterk, van acute neurometabole decompensatie in de zuigelingentijd met verlies van ontwikkelingsmijlpalen, insulten, en piramidale tekenen die snel evolueren tot spastische tetraparese, tot subtiele neurologische symptomen die verschijnen in de adolescentie. Bij de meeste patiënten stabiliseert het ziekteverloop na verloop van tijd, en aanzienlijk herstel van mijlpalen kan waargenomen worden."},"pt":{"name":"Leucoencefalopatia cavitária não progressiva com predomínio cerebral posterior e neuropatia periférica"},"pl":{"name":"Niepostępująca tylna leukoencefalopatia z tworzeniem jam oraz neuropatią obwodową"},"cs":{"name":"Neprogresivní predominantně posteriorní kavitující leukoencefalopatie s periferní neuropatií"},"uk":{"name":"Непрогресуюча переважно задня кавітуюча лейкоенцефалопатія з периферичною нейропатією","definition":"A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed."},"zh":{"name":"非进行性后空洞性脑白质病伴周围神经病","definition":"一种罕见的线粒体疾病，特征在于空洞性脑白质营养不良，MRI检测结果有特征性，主要发生在脑半球的后部区域。临床表现差异很大，重至 婴儿期急性神经代谢失代偿，发育指标延迟，癫痫发作，迅速发展为痉挛性四轻瘫的锥体束征，轻至青春期出现的细微神经系统症状。大多数患者的病程趋于稳定，并且可以观察到发育指标的的明显恢复。"},"tr":{"name":"Periferik nöropati ile seyreden ilerleyici olmayan, ağırlıklı posterior kavitasyonlu lökoensefalopati"}},"xrefs":[{"source":"OMIM","code":"619061","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018576","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5688227","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]},{"orpha":254822,"name":"Mitochondrial oxidative phosphorylation disorder with no known mechanism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COA8","name":"cytochrome c oxidase assembly factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25175347[PMID]","hgnc":"20492","ensembl":"ENSG00000256053","omim":"616003","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-23","source":"16782708[PMID]_25175347[PMID]","terms":[{"hpo":"HP:0006980","label":"Progressive leukoencephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007133","label":"Progressive peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006555","label":"Diffuse hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003109","label":"Hyperphosphaturia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001994","label":"Renal Fanconi syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040291","label":"Skeletal muscle steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}