{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:44:36Z","timestamp":1790459076648,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,6,10]]},"abstract":"<jats:p>Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a novel homozygous mutation from Pakistan. Our patient presented with stridor and respiratory insufficiency. Hearing loss which is the most common sign of this condition was absent, making it an unusual presentation of BVVLS. His examination revealed ptosis and tongue fasciculation. His riboflavin receptor mutational analysis showed the homozygous mutation in the <jats:italic>SLC52A3<\/jats:italic> gene. Per oral riboflavin was administered, and subsequently, he was able to be weaned off the ventilator. Now the child is improving and attaining developmental milestones.<\/jats:p>","DOI":"10.1136\/bcr-2018-224958","type":"journal-article","created":{"date-parts":[[2018,6,27]],"date-time":"2018-06-27T09:47:49Z","timestamp":1530092869000},"page":"bcr-2018-224958","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4378-5197","authenticated-orcid":false,"given":"Qalab","family":"Abbas","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidra Kaleem","family":"Jafri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidra","family":"Ishaque","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arshalooz Jamila","family":"Rahman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,6,27]]},"reference":[{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.006"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-83"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101204"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.4","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9924-2"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.5","doi-asserted-by":"publisher","DOI":"10.2350\/13-02-1299-CR.1"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.6","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90172-6"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.7","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws161"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.8","doi-asserted-by":"crossref","first-page":"2820","DOI":"10.1093\/brain\/awx231","article-title":"Clinical, pathological and functional characterization of riboflavin-responsive neuropathy","volume":"140","author":"Manole","year":"2017","journal-title":"Brain"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.08.003"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.10.003"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(02)00085-2"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.12","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1177\/0883073816689517","article-title":"Brown-Vialetto-Van Laere Syndrome as a mimic of neuroimmune disorders: 3 cases from the clinic and review of the literature","volume":"32","author":"Allison","year":"2017","journal-title":"J Child Neurol"},{"key":"2025082706570708000_2018.jun27_1.bcr-2018-224958.13","doi-asserted-by":"crossref","unstructured":"Chaya S , Zampoli M , Gray D , et al . The first case of riboflavin transporter deficiency in sub-Saharan Africa. Semin Pediatr Neurol 2017:1\u20135.doi:10.1016\/j.spen.2017.03.002","DOI":"10.1016\/j.spen.2017.03.002"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-224958","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T13:57:12Z","timestamp":1756303032000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-224958"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,27]]},"references-count":13,"alternative-id":["10.1136\/bcr-2018-224958"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-224958","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,27]]}}}