{"orpha":251582,"name":"Gliomatosis cerebri","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251582/","orphanet_url":"https://www.orpha.net/en/disease/detail/251582","names":{"fr":{"name":"Gliomatose cérébrale","definition":"Tumeur gliale rare caractérisée par une infiltration diffuse du cerveau, s'étendant souvent aux structures sous-tentorielles et à la moelle épinière. La tumeur composée de cellules gliales de forme allongée ressemblant typiquement à des astrocytes, correspond au grade III de la classification de l'OMS. Dans certains cas décrits, les cellules prédominantes sont des oligodendrocytes. Certaines tumeurs, en plus de la lésion diffuse, développent une masse tumorale circonscrite, présentant généralement des caractéristiques de gliome de haut grade. Les signes cliniques incluent la démence, des maux de tête, des crises convulsives, les signes de l'augmentation de la pression intracrânienne et divers déficits neurologiques. Le pronostic est généralement défavorable."},"de":{"name":"Gliomatosis cerebri","definition":"Ein seltener Glia-Tumor, der durch eine ausgedehnte Infiltration des Gehirns gekennzeichnet ist, die sich häufig auf infratentorielle Strukturen und sogar auf das Rückenmark ausdehnt. Der Tumor entspricht dem WHO-Grad III und besteht aus länglichen Gliazellen, die typischerweise Astrozyten ähneln. Es sind auch Fälle beschrieben worden, in denen der vorherrschende Zelltyp oligodendroglial ist. Bei einigen Tumoren entwickelt sich neben der diffusen Läsion eine umschriebene neoplastische Gewebeverdichtung, die in der Regel Merkmale eines hochgradigen Glioms aufweist. Zu den klinischen Symptomen gehören Demenz, Kopfschmerzen, Krampfanfälle, Anzeichen eines erhöhten Hirndrucks und eine Vielzahl neurologischer Defizite. Die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Gliomatosis cerebri","definition":"Es un tumor glial poco frecuente caracterizado por una extensa infiltración cerebral, que se propaga a menudo a las estructuras infratentoriales e incluso a la médula espinal. El tumor corresponde al grado II de la clasificación de la OMS y está compuesto por células gliales alargadas, típicamente, similares a los astrocitos. También se han descrito casos en los que el componente celular predominante es el oligodendroglial. Además de la lesión difusa, algunos tumores desarrollan una masa neoplásica delimitada, que suele mostrar características de un glioma de alto grado. Los síntomas clínicos incluyen demencia, cefalea, crisis epilépticas, signos de aumento de la presión intracraneal y déficits neurológicos variables. Por lo general, el pronóstico es desfavorable."},"it":{"name":"Gliomatosi cerebrale","definition":"Si tratta di un tumore gliale raro, caratterizzato da una massiccia infiltrazione del cervello, che spesso si estende fino alle strutture infratentoriali e al midollo spinale. Il tumore è classificato di grado III secondo i criteri dell'OMS, ed è composto da cellule gliali allungate che in genere assomigliano agli astrociti. Sono stati descritti anche casi con predominanza di oligodendrociti. In alcuni tumori, oltre alla lesione diffusa, si osserva una massa neoplastica circoscritta, di solito con le caratteristiche di un glioma di grado elevato. I segni clinici comprendono la demenza, la cefalea, le crisi epilettiche, i sintomi correlati all'aumento della pressione intracranica e diversi deficit neurologici. Di solito la prognosi è sfavorevole."},"nl":{"name":"Gliomatosis cerebri","definition":"Een zeldzame gliale tumor, gekarakteriseerd door extensieve infiltratie van hersenen, vaak tot aan infratentoriële structuren en zelfs ruggenmerg. De tumor komt overeen met WHO-graad III en bestaat uit verlengde gliacellen die doorgaans lijken op astrocyten. Er werden ook gevallen beschreven waarbij het oligodendrogliale celtype overheerst. Sommige tumoren ontwikkelen bovenop de diffuse laesie ook een begrensde neoplastische massa die meestal kenmerken van hooggradig glioom vertoont. Klinische symptomen zijn onder meer dementie, hoofdpijn, insulten, tekenen van verhoogde intracraniële druk, en verschillende neurologische functiestoornissen. De prognose is doorgaans slecht."},"pt":{"name":"Gliomatose cerebral"},"pl":{"name":"Glejakowatość mózgu"},"cs":{"name":"Mozková gliomatóza"},"uk":{"name":"Гліоматоз головного мозку","definition":"A rare glial tumor characterized by extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The tumor corresponds to WHO grade III and is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some tumors develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure, and a variety of neurological deficits. Prognosis is generally poor."},"zh":{"name":"大脑神经胶质瘤病","definition":"一种罕见的神经胶质瘤，特点是广泛浸润大脑，通常延伸到幕下结构甚至脊髓。该肿瘤归类为WHO-III级，由细长的胶质细胞组成，通常为星形胶质细胞。主要细胞类型为少突胶质细胞的病例也有报道。有些肿瘤除了弥漫性病变外，还会形成局限性肿块，通常表现出高级别胶质瘤的特征。临床症状包括痴呆症、头痛、癫痫、颅内压升高的迹象，以及各种神经缺陷。预后一般较差。"},"tr":{"name":"Gliomatoz serebri"}},"xrefs":[{"source":"ICD-10","code":"C71.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"373131154"},{"source":"ICD-11","code":"XH6ZH4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"193248354"},{"source":"MONDO","code":"0016683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334576","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066254","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":251561,"name":"High-grade astrocytoma","classifications":[181,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}