{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:06:53Z","timestamp":1756339613700,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,1,23]]},"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Fahr\u2019s disease is a rare condition characterised by the presence of idiopathic familial bilateral basal ganglia calcifications, transmitted in an autosomal-dominant fashion. Diagnosis is based on clinical features of neuropsychiatric and somatic symptoms in conjunction with radiological findings. Our patient, a man in his early 50s, presented with pneumonia. History was significant for five admissions in the last 2 years for pneumonia and falls, with gradual cognitive and motor decline since his late 30s. Hypophonia, bradykinesia and dementia were noted on examination. CT of the brain revealed bilateral thalamic calcinosis, consistent with Fahr\u2019s syndrome. Further investigations and retrospective history taking, and similar radiological findings within first-degree and second-degree relatives with early deaths, transitioned the diagnosis from Fahr\u2019s syndrome to Fahr\u2019s disease. We present this case of Fahr\u2019s disease to emphasise the value of collaboration among multidisciplinary professionals to improve quality of care for such patients.<\/jats:p>","DOI":"10.1136\/bcr-2023-258470","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T12:25:47Z","timestamp":1706703947000},"page":"e258470","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Fahr\u2019s disease in a patient with recurrent pneumonias, parkinsonism and dementia"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8625-2342","authenticated-orcid":false,"given":"Christopher Jude","family":"Pinto","sequence":"first","affiliation":[{"name":"Department of Family Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA"},{"name":"Department of Medicine, Karnataka Institute of Medical Sciences Hubballi, Hubli, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harshita","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Department of Family Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holly","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Family Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Layth","family":"Tumah","sequence":"additional","affiliation":[{"name":"Department of Family Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,1,31]]},"reference":[{"key":"2025082711404812000_17.1.e258470.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2004.12.001"},{"key":"2025082711404812000_17.1.e258470.2","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-8-156","article-title":"Fahr\u2019s syndrome: literature review of current evidence","volume":"8","author":"Saleem","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"2025082711404812000_17.1.e258470.3","unstructured":"Amisha F , Munakomi S . Fahr syndrome. Treasure Island (FL): StatPearls, 2023."},{"key":"2025082711404812000_17.1.e258470.4","doi-asserted-by":"publisher","DOI":"10.1148\/rg.311105041"},{"key":"2025082711404812000_17.1.e258470.5","doi-asserted-by":"crossref","DOI":"10.1002\/ccr3.7358","article-title":"Fahr\u2019s disease presenting as Parkinson\u2019s disease along with dysphagia and dysarthria: a case report","volume":"11","author":"Sapkota","year":"2023","journal-title":"Clin Case Rep"},{"key":"2025082711404812000_17.1.e258470.6","doi-asserted-by":"publisher","DOI":"10.1002\/mds.1049"},{"key":"2025082711404812000_17.1.e258470.7","doi-asserted-by":"crossref","DOI":"10.1186\/s12883-016-0693-1","article-title":"Bilateral strio-pallido-dentate calcinosis (Fahr\u2019s disease): report of seven cases and revision of literature","volume":"16","author":"Savino","year":"2016","journal-title":"BMC Neurol"},{"key":"2025082711404812000_17.1.e258470.8","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2006000400024"},{"key":"2025082711404812000_17.1.e258470.9","doi-asserted-by":"publisher","DOI":"10.1007\/BF02033355"},{"key":"2025082711404812000_17.1.e258470.10","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1016\/j.ciresp.2015.08.003","article-title":"Brain calcifications and primary hyperparathyroidism","volume":"94","author":"de la Plaza Llamas","year":"2016","journal-title":"Cir Esp"},{"key":"2025082711404812000_17.1.e258470.11","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241310522"},{"key":"2025082711404812000_17.1.e258470.12","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s00455-019-10066-1","article-title":"The effect of lingual resistance training interventions on adult swallow function: a systematic review","volume":"35","author":"Smaoui","year":"2020","journal-title":"Dysphagia"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-258470","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:40:54Z","timestamp":1756320054000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-258470"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,31]]},"published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1136\/bcr-2023-258470"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-258470","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,1]]}}}