{"orpha":99852,"name":"Ravine syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive encephalopathy with severe infantile anorexia","Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome"],"definition":"Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99852/","orphanet_url":"https://www.orpha.net/en/disease/detail/99852","names":{"fr":{"name":"Syndrome Ravine","synonyms":["Encéphalopathie progressive avec anorexie infantile sévère","Syndrome d'anorexie-vomissement irrépressible-signes neurologiques"],"definition":"Le syndrome Ravine est un trouble neurologique génétique extrêmement rare rapporté chez un petit nombre de patients au sein d'une communauté spécifique de l'Ile de la Réunion (région Ravine). Il se caractérise par une anorexie infantile avec des vomissements répétés et irrépressibles, une atteinte aigüe du tronc cérébral, un retard de croissance staturo-pondérale sévère et une encéphalopathie progressive. L'imagerie par résonance magnétique (IRM) révèle la disparition de la moelle allongée et de la substance blanche cérébelleuse, une atrophie sévère du pont, des hyperintensités au niveau de la substance blanche péri-ventriculaire sus-tentorielle et des anomalies des ganglions de la base."},"de":{"name":"Ravine-Syndrom","synonyms":["Progressive Enzephalopathie mit schwerer infantiler Anorexie","Réunion-Anorexie-unkontrollierbares Erbrechen-Neurologische Symptome-Syndrom"],"definition":"Das Ravine-Syndrom ist eine sehr seltene, genetisch bedingte, neurologische Erkrankung, die bei einer kleinen Anzahl von Patienten in der Region Ravine auf der Insel Reunion beschrieben wurde. Sie ist durch infantile Anorexie mit wiederholtem und unkontrollierbarem Erbrechen, akuter Hirnstammdysfunktion, schwerer Gedeihstörung und progredienter Enzephalopathie gekennzeichnet. Im MRT zeigen sich neben einer Degeneration der Medulla oblongata und der zerebellären weißen Substanz, eine schwere Atrophie des Pons, Hyperintensitäten in der supratentoriellen und periventrikulären weißen Substanz sowie Anomalien der Basalganglien."},"es":{"name":"Síndrome de Ravine","synonyms":["Encefalopatía progresiva con anorexia grave del lactante","Síndrome de la Isla de la Reunión-anorexia-vómitos incontenibles-signos neurológicos"],"definition":"Es un trastorno neurológico genético y extremadamente poco frecuente descrito en un reducido número de pacientes en una comunidad de la isla de La Reunión (región de la Ravine). Está caracterizado por anorexia infantil con vómitos irreprimibles y recurrentes, disfunción aguda del tronco encefálico, fallo de medro grave, y encefalopatía progresiva. La RMN muestra el desvanecimiento de la sustancia blanca cerebelar y del bulbo raquídeo y grave atrofia del tronco cerebral, junto con hiperintensidad de la sustancia blanca periventricular supratentorial y anomalías de los ganglios basales."},"it":{"name":"Sindrome RAVINE","synonyms":["Encefalopatia progressiva con anoressia infantile grave","Isola di Reunion - anoressia - vomito incoercibile - segni neurologici"],"definition":"La sindrome Ravine è una malattia neurologica genetica molto rara, descritta in un numero ridotto di pazienti appartenenti ad una comunità dell'isola della Réunion (regione di Ravine); è caratterizzata da anoressia infantile associata a vomito incoercibile e persistente, disfunzione acuta del tronco encefalico, grave ritardo della crescita ed encefalopatia progressiva; la RMN evidenzia una riduzione del midollo allungato e della sostanza bianca cerebellare, grave atrofia del bulbo, iperintensità nella sostanza bianca sopratentoriale periventricolare ed anomalie dei gangli della base."},"nl":{"name":"Ravine-syndroom","synonyms":["Progressieve encefalopathie met ernstige infantiele anorexia","Réunion-eiland - anorexie - onbedwingbaar braken - neurologische tekenen-syndroom"],"definition":"Ravine-syndroom is een uiterst zeldzame, genetische, neurologische aandoening die werd gerapporteerd in een klein aantal patiënten in een bepaalde gemeenschap op het eiland Réunion (Ravine-regio), en die wordt gekarakteriseerd door infantiele anorexie met onbedwingbaar en herhaaldelijk braken, acute disfunctie van de hersenstam, ernstige groeiachterstand, en progressieve encefalopathie waarbij MRI het verdwijnen van de medulla oblongata en cerebellaire witte stof alsook ernstige atrofie van de pons aantoont, in combinatie met hyperintensiteiten van de supratentoriële periventriculaire witte stof en anomalieën van de basale ganglia."},"pt":{"name":"Reunião, Anorexia, Vómito Incoercível, e sinais NEurológicos (RAVINE)"},"pl":{"name":"Zespół Ravine","synonyms":["Postępująca encefalopatia z ciężką anoreksją niemowlęcą","Zespół wyspy Reunion, anoreksji, niepohamowanych wymiotów i objawów neurologicznych"]},"cs":{"name":"RAVINE syndrom","synonyms":["Progresivní encefalopatie s těžkou dětskou anorexií","Syndrom zahrnující anorexii ostrova Reunion, nepotlačitelné zvracení a neurologické znaky"]},"uk":{"name":"Синдром Равіна","synonyms":["Прогресуюча енцефалопатія з тяжкою формою дитячої анорексії","Острів воззєднання - анорексія - нестримне блювання - синдром неврологічних ознак"],"definition":"Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies."},"zh":{"name":"RAVINE综合征","synonyms":["无法抑制的 Reunion岛-食欲减退-呕吐 神经性体征综合征"],"definition":"Ravine综合征是一种极其罕见的遗传性神经疾病，在留尼汪岛(Ravine地区)的一个特定社区中有少数患者报告，其特征是婴儿期厌食并无法抑制的反复的呕吐，急性脑干功能障碍，严重发育不良，进行性脑病，MRI显示延髓和小脑白质消失，脑桥严重萎缩，并伴有幕上脑室周围白质高信号和基底节异常。"},"tr":{"name":"Ravine sendromu","synonyms":["Ağır infantil anoreksiyalı İlerleyici ensefalopati","Reunion adası-anoreksi-önlenemeyen kusma-nörolojik belirti sendromu"]}},"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":"451093599"},{"source":"MONDO","code":"0020505","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275006","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":[{"symbol":"SLC7A2-IT1","name":"SLC7A2 intronic transcript 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22411793[PMID]_23637635[PMID]","hgnc":"54925","ensembl":"ENSG00000279903","omim":null,"loci":["8p22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"10429812[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10429812[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-04","source":"22411793[PMID]","terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null}]}}