{"orpha":268865,"name":"Neurenteric cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268865/","orphanet_url":"https://www.orpha.net/en/disease/detail/268865","names":{"fr":{"name":"Kyste neurentérique","definition":"Malformation congénitale rare non syndromique du canal neurentérique et de la moelle épinière, caractérisée par une masse kystique intraspinale, principalement intradurale-extramédullaire, située typiquement en position ventrale par rapport à la moelle épinière. L'analyse histopathologique met en évidence un épithélium colonnaire ou cuboïdal avec ou sans cils et globules de mucus. Les patients peuvent être asymptomatiques ou présenter des signes et symptômes de compression de la moelle épinière et des racines nerveuses associées, tels qu'une faiblesse focale, une parésie progressive, des paresthésies, des troubles de la marche ou des douleurs radiculaires. Une concomitance d'anomalies vertébrales congénitales est fréquemment observée."},"de":{"name":"Zyste, neurenterische","definition":"Eine seltene, kongenitale, nicht-syndromale Fehlbildung des Nervenkanals, des Rückenmarks und der Wirbelsäule, gekennzeichnet durch eine intraspinale, überwiegend intradural-extramedulläre zystische Masse, die typischerweise ventral des Rückenmarks lokalisiert ist. Die Histopathologie zeigt kolumnares oder quaderförmiges Epithel mit oder ohne Zilien und Schleimkügelchen. Die Patienten können asymptomatisch sein oder Anzeichen und Symptome einer Kompression des Rückenmarks und der zugehörigen Nervenwurzeln aufweisen, wie z. B. fokale Schwäche, progressive Paresen, Parästhesien, Gangstörungen oder radikuläre Schmerzen. Häufig werden begleitende kongenitale Wirbelanomalien beobachtet."},"es":{"name":"Quiste neuroentérico","definition":"Es una malformación no sindrómica, congénita y poco frecuente, del canal neuroentérico, de la médula espinal y de la columna caracterizada por una masa quística intra-espinal, predominantemente intradural-extramedular, de localización típicamente ventral a la médula espinal. La histopatología revela epitelio columnar o cuboidal con o sin cilios y glóbulos mucosos. Los pacientes pueden permanecer asintomáticos o presentarse con signos y síntomas de compresión de la médula espinal y de las raíces nerviosas asociadas, tales como debilidad focal, paresia progresiva, parestesias, trastorno de la marcha o dolor radicular. Con frecuencia se observan anomalías vertebrales congénitas asociadas."},"it":{"name":"Cisti neuroenterica","definition":"Si tratta di una malformazione congenita rara non sindromica del canale neuroenterico, del midollo spinale e della colonna vertebrale, caratterizzato dalla presenza di una massa cistica intraspinale, prevalentemente intradurale-extramidollare, di solito localizzata in posizione ventrale rispetto al midollo spinale. L'esame istologico evidenzia un epitelio colonnare o cuboidale, con o senza cilia e globuli mucosi. I pazienti possono essere asintomatici o presentare i sintomi della compressione del midollo spinale e delle corrispondenti radici nervose (debolezza focale, paresi progressiva, parestesie, anomalie dell'andatura o dolore radicolare). Spesso si associa ad altre anomalie vertebrali congenite."},"nl":{"name":"Neurenterische cyste","definition":"Een zeldzame, congenitale, niet-syndromale malformatie van neurenterisch kanaal, ruggenmerg en wervelkolom, gekarakteriseerd door een intraspinale, voornamelijk intradurale-extramedullaire cystische massa doorgaans ventraal van het ruggenmerg gelokaliseerd. Histopathologie toont columnair of cuboïdaal epitheel met of zonder cilia en slijmkorrels. Patiënten kunnen asymptomatisch of zich presenteren met tekenen en symptomen van compressie van het ruggenmerg en geassocieerde zenuwwortels, zoals focale zwakte, progressieve parese, paresthesieën, gangstoornis, of radiculaire pijn. Tegelijk worden frequent congenitale vertebrale anomalieën waargenomen."},"pt":{"name":"Quisto neuroentérico"},"pl":{"name":"Torbiel nerwowo-jelitowa"},"cs":{"name":"Neurenterická cysta"},"uk":{"name":"Нейрокишкова кіста","definition":"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed."},"zh":{"name":"神经管原肠囊肿","definition":"一种罕见的、先天性的、非综合征的神经肠管、脊髓和脊柱畸形，其特征为主要位于脊髓腹侧的椎管内特别是硬膜内-髓外的囊性肿块。组织病理学显示有或没有纤毛和黏液球的柱状或立方形上皮。患者可能无症状或出现脊髓和相关神经根受压的体征和症状，如局灶性无力、进行性麻痹、感觉异常、步态障碍或神经根疼痛。经常观察到伴随的先天性脊椎异常。"},"tr":{"name":"Nörenterik kist"}},"xrefs":[{"source":"ICD-10","code":"Q06.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA07.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"172158971"},{"source":"MONDO","code":"0017087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0027806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}