{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T10:21:34Z","timestamp":1771928494030,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,11,20]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>\n                    Biotinidase deficiency (BTD) is an inherited metabolic disorder with neurological, dermatological and metabolic manifestations. Clinical deterioration in adequately treated older children is uncommon and raises concerns regarding drug non-compliance, dosage adequacy or, rarely, evolving disease mechanisms. Here we report a middle childhood female with\n                    <jats:italic>BTD<\/jats:italic>\n                    diagnosed based on low biotinidase levels from infancy, and on supplementation with biotin. The patient presented with ataxia and encephalopathy following a febrile illness. The work-up for autoimmune, demyelinating and infectious aetiologies was negative, and later she had one episode of acute metabolic crisis. The child\u2019s non-compliance with biotin for the last 3 months, and on restarting the child on biotin, along with symptomatic management of acute metabolic crisis, the child recovered. Drug non-compliance and management of acute metabolic crisis during intercurrent illness need to be emphasised. Knowledge of late-onset manifestations that can mimic demyelinating disorders prevents unnecessary workup.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2025-269225","type":"journal-article","created":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T19:40:23Z","timestamp":1766518823000},"page":"e269225","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"first","affiliation":[{"name":"Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anagha C","family":"Badrinath","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muskan P","family":"Verma","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amena","family":"Nayyer","sequence":"additional","affiliation":[{"name":"Paediatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,23]]},"reference":[{"key":"2026022401301109000_18.12.e269225.1","unstructured":"Wolf B . Biotinidase deficiency. In: Adam MP , Feldman J , Mirzaa GM , et al , eds. Genereviews. Seattle (WA): University of Washington, Seattle, 1993."},{"key":"2026022401301109000_18.12.e269225.2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/gim.2017.84","article-title":"Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics","volume":"19","author":"Strovel","year":"2017","journal-title":"Genet Med"},{"key":"2026022401301109000_18.12.e269225.3","doi-asserted-by":"crossref","first-page":"e27","DOI":"10.1097\/WNO.0000000000000933","article-title":"Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency","volume":"41","author":"Kellom","year":"2021","journal-title":"J Neuroophthalmol"},{"key":"2026022401301109000_18.12.e269225.4","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1177\/1352458517702551","article-title":"Biotinidase deficiency masquerading as multiple sclerosis?","volume":"24","author":"Wolf","year":"2018","journal-title":"Mult Scler"},{"key":"2026022401301109000_18.12.e269225.5","doi-asserted-by":"publisher","DOI":"10.1177\/1352458515596457"},{"key":"2026022401301109000_18.12.e269225.6","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1111\/j.1469-8749.1997.tb07552.x","article-title":"Late presentation of biotinidase deficiency with acute visual loss and gait disturbance","volume":"39","author":"Rahman","year":"1997","journal-title":"Dev Med Child Neurol"},{"key":"2026022401301109000_18.12.e269225.7","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ymgme.2015.08.012","article-title":"Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss","volume":"116","author":"Wolf","year":"2015","journal-title":"Mol Genet Metab"},{"key":"2026022401301109000_18.12.e269225.8","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1055\/s-0040-1718537","article-title":"A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis","volume":"11","author":"Gowda","year":"2022","journal-title":"J Pediatr Genet"},{"key":"2026022401301109000_18.12.e269225.9","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A7781"},{"key":"2026022401301109000_18.12.e269225.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.01.003"},{"key":"2026022401301109000_18.12.e269225.11","doi-asserted-by":"crossref","DOI":"10.3390\/ijms25126578","article-title":"Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives","volume":"25","author":"Karachaliou","year":"2024","journal-title":"Int J Mol Sci"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-269225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T09:30:22Z","timestamp":1771925422000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-269225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":11,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,12,23]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bcr-2025-269225"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-269225","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}