{"corpus_id":6299691,"paper_sha":"f90eeeef110dad3a853a9cf0675c75ad8ecc952d","doi":"10.1186/s40001-015-0192-7","arxiv_id":null,"pmid":26698837,"pmcid":"4690344","mag_id":2197305799,"dblp_id":null,"acl_id":null,"title":"Melkersson–Rosenthal syndrome as an early manifestation of mixed connective tissue disease","year":2015,"publication_date":"2015-12-23","venue":"European Journal of Medical Research","journal":{"name":"European Journal of Medical Research","pages":null,"volume":"20"},"journal_issn":null,"journal_title":null,"publication_types":["Review","JournalArticle","CaseReport"],"pubmed_pub_types":["Case Reports","Journal Article","Review"],"s2_fields_of_study":["Medicine"],"reference_count":10,"citation_count":14,"influential_citation_count":1,"is_open_access":true,"arxiv_categories":null,"arxiv_license":null,"arxiv_journal_ref":null,"mesh_headings":[{"d":"Adult","mj":false,"ui":"D000328"},{"d":"Female","mj":false,"ui":"D005260"},{"d":"Humans","mj":false,"ui":"D006801"},{"d":"Melkersson-Rosenthal Syndrome","mj":false,"qs":[{"q":"complications","mj":true,"ui":"Q000150"},{"q":"etiology","mj":false,"ui":"Q000209"}],"ui":"D008556"},{"d":"Mixed Connective Tissue Disease","mj":false,"qs":[{"q":"etiology","mj":true,"ui":"Q000209"}],"ui":"D008947"}],"chemicals":null,"comments_corrections":null,"source_flags":5,"s2_open_access_pdf_url":"https://eurjmedres.biomedcentral.com/counter/pdf/10.1186/s40001-015-0192-7","s2_open_access_landing_url":"https://www.semanticscholar.org/paper/f90eeeef110dad3a853a9cf0675c75ad8ecc952d","s2_open_access_license":"CCBY","s2_open_access_status":"GOLD","pmc_open_access_pdf_url":null,"pmc_open_access_landing_url":null,"pmc_open_access_license":null,"pmc_open_access_status":null,"unpaywall_open_access_pdf_url":null,"unpaywall_open_access_landing_url":null,"unpaywall_open_access_license":null,"unpaywall_open_access_status":null,"abstract":"AbstractPurpose of reviewWe aim to illustrate the potential viability of MCTD as an\n underlying aetiology of Melkersson–Rosenthal syndrome. The case is probably the first description available in the literature of the Melkersson–Rosenthal as an early manifestation of mixed connective tissue disease.Recent findingsThe Melkersson–Rosenthal syndrome consists of a triad of recurrent lip and/or face swelling, fissured tongue, and intermittent facial palsy. Mixed connective tissue disease is a multisystemic disorder with overlapping features of systemic lupus erythematosus, scleroderma, and polymyositis, and is differentiated from them by a high titer of antibodies to ribonucleoprotein. The paper presents a case report of Melkersson–Rosenthal syndrome with an onset in childhood that derived from vasculitis that turned out to be an early manifestation of mixed connective tissue disease. We used MRI to evaluate patient’s brain structure and Immunoblot Ena Profil 1 test to test serum autoantibodies level. The patient has a typical for Melkersson–Rosenthal syndrome triad of symptoms: bilateral facial nerve palsy, lingua plicata and facial oedema. Both TC and MRI of the head show no changes as well as laboratory tests except Anti-SS-A (Anti-Ro) and Anti-RNP autoantibody serum level that was highly positive.SummaryNeurological involvement of the MCTD usually includes, according to the frequency of the occurrence, trigeminal neuralgia, headaches, sensorineural hearing, cerebral haemorrhage, transverse myelitis, cauda equina syndrome, retinal vasculitis, progressive multifocal encephalopathy, and demyelinating neuropathy. For clinical practice it is important to remember that Melkersson–Rosenthal syndrome can also be the neurological manifestation of MCTD, especially when accompanied by other systemic symptoms.","claims":[{"public_id":"cl_3fbb71f179f41871f6fe97eec1cce3c7","status":"active","text":"Anti-SS-A (Anti-Ro) and Anti-RNP autoantibody serum levels were highly positive in the patient, while other laboratory tests and head TC/MRI showed no changes.","confidence":0.9,"contributors":[{"id":32,"public_id":"7c402c1b98","public_label":"뀨 (7c402c1b98)","roles":["extraction"],"url":"https://sah.borca.ai/u/7c402c1b98"},{"id":136,"public_id":"3c2apqe3ut","public_label":"Anonymous (3c2apqe3ut)","roles":["review"],"url":"https://sah.borca.ai/u/3c2apqe3ut"},{"id":127,"public_id":"yy3835ars5","public_label":"Anonymous 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involvement of mixed connective tissue disease includes trigeminal neuralgia, headaches, sensorineural hearing, cerebral haemorrhage, transverse myelitis, cauda equina syndrome, retinal vasculitis, progressive multifocal encephalopathy, and demyelinating neuropathy.","confidence":0.8,"contributors":[{"id":32,"public_id":"7c402c1b98","public_label":"뀨 (7c402c1b98)","roles":["extraction"],"url":"https://sah.borca.ai/u/7c402c1b98"},{"id":136,"public_id":"3c2apqe3ut","public_label":"Anonymous (3c2apqe3ut)","roles":["review"],"url":"https://sah.borca.ai/u/3c2apqe3ut"},{"id":127,"public_id":"yy3835ars5","public_label":"Anonymous (yy3835ars5)","roles":["review"],"url":"https://sah.borca.ai/u/yy3835ars5"}],"url":"https://sah.borca.ai/claims/cl_9ceb0976c2a13c0d05f7fd330048676e"},{"public_id":"cl_7cce7d8dedd666d2e4e2aef454b31110","status":"active","text":"The patient presented with the classic triad of Melkersson–Rosenthal syndrome: bilateral facial nerve palsy, lingua plicata, and facial oedema.","confidence":0.9,"contributors":[{"id":32,"public_id":"7c402c1b98","public_label":"뀨 (7c402c1b98)","roles":["extraction"],"url":"https://sah.borca.ai/u/7c402c1b98"},{"id":136,"public_id":"3c2apqe3ut","public_label":"Anonymous (3c2apqe3ut)","roles":["review"],"url":"https://sah.borca.ai/u/3c2apqe3ut"},{"id":127,"public_id":"yy3835ars5","public_label":"Anonymous (yy3835ars5)","roles":["review"],"url":"https://sah.borca.ai/u/yy3835ars5"}],"url":"https://sah.borca.ai/claims/cl_7cce7d8dedd666d2e4e2aef454b31110"}],"concepts":[{"public_id":"co_14411c2ac3f895eca22f340f32eaceb3","status":"active","name":"facial oedema","description":"Swelling of the face, a component of the Melkersson–Rosenthal syndrome triad.","types":["symptom"],"aliases":["face swelling"],"contributors":[{"id":32,"public_id":"7c402c1b98","public_label":"뀨 (7c402c1b98)","roles":["extraction"],"url":"https://sah.borca.ai/u/7c402c1b98"},{"id":136,"public_id":"3c2apqe3ut","public_label":"Anonymous 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