{"orpha":79138,"name":"Bickerstaff brainstem encephalitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autoimmune encephalitis/neuropathy characterized by disturbances of consciousness, ophthalmoplegia, ataxia, and hyperreflexia. It has common clinical features with Miller Fisher syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79138/","orphanet_url":"https://www.orpha.net/en/disease/detail/79138","names":{"fr":{"name":"Rhombencéphalite de Bickerstaff","synonyms":["Rhombencéphalite postinfectieuse de Bickerstaff","Syndrome de Bickerstaff"],"definition":"Neuropathie/encéphalite auto-immune rare caractérisée par des troubles de la conscience, une ophtalmoplégie, une ataxie et une hyperréflexie. La maladie présente des caractéristiques cliniques communes avec le syndrome de Miller Fisher."},"de":{"name":"Bickerstaff-Enzephalitis","synonyms":["Bickerstaff-Hirnstammenzephalitis"],"definition":"Eine seltene autoimmune Enzephalitis/Neuropathie, die durch Bewusstseinsstörungen, Ophthalmoplegie, Ataxie und Hyperreflexie gekennzeichnet ist. Sie weist gemeinsame klinische Merkmale mit dem Miller-Fisher-Syndrom auf."},"es":{"name":"Encefalitis troncoencefálica de Bickerstaff","definition":"Es una encefalitis/neuropatía autoinmune poco frecuente caracterizada por alteraciones del nivel de conciencia, oftalmoplejía, ataxia e hiperreflexia. Presenta características clínicas comunes con el síndrome de Miller Fisher."},"it":{"name":"Encefalite troncoencefalica di Bickerstaff"},"nl":{"name":"Bickerstaff-hersenstamencefalitis","definition":"Een zeldzame auto-immune encefalitis/neuropathie, gekenmerkt door bewustzijnsproblemen, oftalmoplegie, ataxie, en hyperreflexie. Het deelt klinische kenmerken met syndroom van Miller-Fisher."},"pt":{"name":"Encefalite do tronco cerebral Bickerstaff","definition":"Encefalite/neuropatia autoimune rara caracterizada por distúrbios de consciência, oftalmoplegia, ataxia e hiperreflexia. Tem características clínicas comuns com a síndrome Miller Fisher."},"pl":{"name":"Zapalenie pnia mózgu Bickerstaffa"},"cs":{"name":"Bickerstaffova kmenová encefalitida"},"uk":{"name":"Стовбуровий енцефаліт Бікерстаффа","definition":"A rare autoimmune encephalitis/neuropathy characterized by disturbances of consciousness, ophthalmoplegia, ataxia, and hyperreflexia. It has common clinical features with Miller Fisher syndrome."},"zh":{"name":"Bickerstaff脑干脑炎"},"tr":{"name":"Bickerstaff beyin sapı ensefaliti"}},"xrefs":[{"source":"ICD-10","code":"G61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"163316971"},{"source":"MONDO","code":"0019208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1960543","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":622014,"name":"Autoimmune encephalitis","classifications":[181]},{"orpha":231416,"name":"Regional variant of Guillain-Barré syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-30","source":"32934014[PMID]_33378029[PMID]_32655484[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007305","label":"CNS demyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007131","label":"Acute demyelinating polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007209","label":"Facial paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012416","label":"Hypercapnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011499","label":"Mydriasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031123","label":"Recurrent gastroenteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010871","label":"Sensory ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null}]}}