{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T19:13:01Z","timestamp":1760987581381,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,5]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Stiff-person syndrome (SPS) is a rare neurological condition that frequently affects adults, with the neurologist diagnosing only one or two cases during his or her career. Reports of paediatric SPS are exceedingly rare, with less than 20 cases described in the literature.<\/jats:p>\n               <jats:p>The patient presented was initially diagnosed with a functional movement disorder then a genetic dystonia, with a poor response to treatment trials and negative genetic testing. Consideration of Wilson\u2019s disease was refuted with non-supportive investigations and assessments.<\/jats:p>\n               <jats:p>We aim to present the long road to diagnosing our first paediatric patient with SPS, who presented in middle childhood.<\/jats:p>","DOI":"10.1136\/bcr-2023-256448","type":"journal-article","created":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T12:00:59Z","timestamp":1707998459000},"page":"e256448","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Axial dystonia as a manifestation of stiff-person syndrome in a paediatric patient"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0378-7614","authenticated-orcid":false,"given":"Vanita","family":"Shukla","sequence":"first","affiliation":[{"name":"Paediatric Department, NCRHA, Champ Fleurs, Trinidad and Tobago"},{"name":"Child Health Unit, The University of the West Indies at St Augustine Faculty of Medical Sciences, Saint Augustine, Trinidad and Tobago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virendra Rajesh Sarabjit","family":"Singh","sequence":"additional","affiliation":[{"name":"Child Health Unit, The University of the West Indies at St Augustine Faculty of Medical Sciences, Saint Augustine, Trinidad and Tobago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna-Marie","family":"Edwards","sequence":"additional","affiliation":[{"name":"Paediatric Department, NCRHA, Champ Fleurs, Trinidad and Tobago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maritza","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Child Health Unit, The University of the West Indies at St Augustine Faculty of Medical Sciences, Saint Augustine, Trinidad and Tobago"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,2,15]]},"reference":[{"key":"2025082708142825000_17.2.e256448.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25002"},{"key":"2025082708142825000_17.2.e256448.2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309201"},{"key":"2025082708142825000_17.2.e256448.3","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-009-0013-9"},{"key":"2025082708142825000_17.2.e256448.4","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.991"},{"key":"2025082708142825000_17.2.e256448.5","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1002\/mdc3.12629","article-title":"Pragmatic treatment of stiff person spectrum disorders","volume":"5","author":"Balint","year":"2018","journal-title":"Mov Disord Clin Pract"},{"key":"2025082708142825000_17.2.e256448.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa01167"},{"key":"2025082708142825000_17.2.e256448.7","doi-asserted-by":"publisher","DOI":"10.1159\/000339446"},{"key":"2025082708142825000_17.2.e256448.8","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1001\/jamaneurol.2014.1011","article-title":"Cerebellar ataxia and glutamic acid decarboxylase antibodies: immunologic profile and long\u2010term effect of immunotherapy","volume":"71","author":"Ari\u00f1o","year":"2014","journal-title":"JAMA Neurol"},{"key":"2025082708142825000_17.2.e256448.9","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1001\/jamaneurol.2013.574","article-title":"Glycine receptor autoimmune spectrum with stiff\u2010man syndrome phenotype","volume":"70","author":"McKeon","year":"2013","journal-title":"JAMA Neurol"},{"key":"2025082708142825000_17.2.e256448.10","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1177\/014107680109400614","article-title":"Stiff-man syndrome in childhood","volume":"94","author":"Markandeyulu","year":"2001","journal-title":"J R Soc Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-256448","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:14:34Z","timestamp":1756307674000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-256448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,15]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/bcr-2023-256448"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-256448","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,2]]}}}