{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:10:23Z","timestamp":1756293023042,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,6,13]]},"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:p>We report a case of a boy in his middle childhood who presented with inspiratory stridor and lactic acidosis and was subsequently diagnosed with partial biotinidase deficiency. Fibreoptic laryngoscope showed paradoxical vocal fold mobility.<\/jats:p>\n               <jats:p>Partial biotidinase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. It may result in clinical consequences and can be easily treated with biotin but need a high index of suspicion to diagnose. The main symptoms include ataxia, seizures, hypotonia, psychomotor retardation, alopecia, skin rash, progressive deafness, optic atrophy and life-threatening episodes of metabolic acidosis. Laryngeal stridor is an uncommon presentation, but it is reversible in case of biotinidase deficiency. Invasive procedure like tracheostomy has not been shown to enhance outcomes.<\/jats:p>","DOI":"10.1136\/bcr-2023-256935","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T22:45:14Z","timestamp":1719269114000},"page":"e256935","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Laryngeal stridor in children caused by reversible metabolic disease"],"prefix":"10.1136","volume":"17","author":[{"given":"Farah Salman","family":"Alnemari","sequence":"first","affiliation":[{"name":"College of Medicine and Surgery, Taif University, Taif, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7081-2723","authenticated-orcid":false,"given":"Hussain","family":"Alsheef","sequence":"additional","affiliation":[{"name":"Pediatric ENT, Maternity and Children Hospital, Dammam, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1981-2171","authenticated-orcid":false,"given":"Zohour Awadh","family":"Almalki","sequence":"additional","affiliation":[{"name":"College of Medicine and Surgery, Taif University, Taif, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,6,24]]},"reference":[{"key":"2025082703504211000_17.6.e256935.1","unstructured":"Saleem H , Simpson B . Biotinidase deficiency. 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Biotin responsive Stridor etcetera. In free communications. 22nd Annual Symposium, Society for the Study of Inborn Errors of Metabolism; 1984"},{"key":"2025082703504211000_17.6.e256935.14","doi-asserted-by":"crossref","first-page":"64","DOI":"10.4038\/seajme.v14i2.275","article-title":"Pediatric otolaryngology training program and surgical exposure in Western province, Saudi Arabia; toward surgical competency in pediatric Otolaryngology","volume":"14","author":"Al-khatib","year":"2020","journal-title":"SE Asian Jnl Med Educ"},{"key":"2025082703504211000_17.6.e256935.15","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81649-X"},{"key":"2025082703504211000_17.6.e256935.16","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e4cc0f"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-256935","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:50:51Z","timestamp":1756291851000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-256935"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":16,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6,24]]},"published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1136\/bcr-2023-256935"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-256935","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,6]]}}}