{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T18:18:46Z","timestamp":1787681926096,"version":"build-2784847793"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,18]],"date-time":"2011-11-18T00:00:00Z","timestamp":1321574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:p>Brown\u2013Vialetto\u2013Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the <jats:italic>C20orf54<\/jats:italic> gene, which also codes for an intestinal riboflavin transporter. We report the case of a female who presented at 22\u2003months with acute\u2010onset stridor and generalized muscle weakness, in whom a genetic diagnosis of BVVLS was made, and whose symptoms improved on therapy with high\u2010dose riboflavin. She had previously been developing normally and was able to walk at 11\u2003months, then developed progressive muscle weakness at 22\u2003months, and within 2\u2003weeks was unable to sit without support. She also demonstrated stridor and paradoxical breathing indicating diaphragmatic weakness, and required continuous non\u2010invasive ventilation (NIV) through a tracheostomy. After treatment with riboflavin she was able to walk unaided, and her Gross Motor Functional Classification level improved from level IV to level I, having fully regained the motor function she showed before symptom onset. There were no longer signs of diaphragmatic paralysis while on NIV, and she was able to tolerate 10\u2010minute periods off NIV before paradoxical breathing again became apparent. We therefore recommend that in all cases suspected to be in the BVVLS or Fazio\u2013Londe spectrum, early treatment with high\u2010dose riboflavin must be considered.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04142.x","type":"journal-article","created":{"date-parts":[[2011,11,18]],"date-time":"2011-11-18T12:54:39Z","timestamp":1321620879000},"page":"187-189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Early use of high\u2010dose riboflavin in a case of Brown\u2013Vialetto\u2013Van Laere syndrome"],"prefix":"10.1111","volume":"54","author":[{"given":"GEETHA","family":"ANAND","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NADEEM","family":"HASAN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SATHIYA","family":"JAYAPAL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZILLA","family":"HUMA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TARIQ","family":"ALI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JEREMY","family":"HULL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EDWARD","family":"BLAIR","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TONY","family":"MCSHANE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SANDEEP","family":"JAYAWANT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,11,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-189411000-00003"},{"key":"e_1_2_5_3_2","first-page":"1","article-title":"Contributo alla forma ereditaria della paralisi bulbare progressive","volume":"40","author":"Vialetto E","year":"1936","journal-title":"Riv Sper Freniat"},{"key":"e_1_2_5_4_2","first-page":"289","article-title":"[Familial progressive chronic bulbo\u2010pontine paralysis with deafness. A case of Klippel\u2013Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems]","volume":"115","author":"Van Laere J","year":"1966","journal-title":"Rev Neurol"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.10.003"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-9"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.176"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.05.003"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9242-z"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.006"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/jb\/mvn181"},{"key":"e_1_2_5_12_2","first-page":"294","article-title":"Riboflavin deficiency \u2013 a reversible neurodegenerative disease","volume":"10","author":"Leshner RT","year":"1981","journal-title":"Ann Neurol"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2011.04142.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2011.04142.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:36:59Z","timestamp":1698712619000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2011.04142.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,18]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["10.1111\/j.1469-8749.2011.04142.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2011.04142.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,18]]},"assertion":[{"value":"2011-11-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}