Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.

Abstract

Brown-Vialetto-Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the C20orf54 gene, which also codes for an intestinal riboflavin transporter. We report the case of a female who presented at 22 months with acute-onset stridor and generalized muscle weakness, in whom a genetic diagnosis of BVVLS was made, and whose symptoms improved on therapy with high-dose riboflavin. She had previously been developing normally and was able to walk at 11 months, then developed progressive muscle weakness at 22 months, and within 2 weeks was unable to sit without support. She also demonstrated stridor and paradoxical breathing indicating diaphragmatic weakness, and required continuous non-invasive 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-minute periods off NIV before paradoxical breathing again became apparent. We therefore recommend that in all cases suspected to be in the BVVLS or Fazio-Londe spectrum, early treatment with high-dose riboflavin must be considered.

DOI: 10.1111/j.1469-8749.2011.04142.x
0100200201220132014201520162017
Citations per Year

387 Citations

Semantic Scholar estimates that this publication has 387 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Anand2012EarlyUO, title={Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.}, author={Geetha Anand and Nadeem Hasan and Sathiya S K Jayapal and Zilla Huma and Tariq Javid Ali and Jeremy Hull and Edward M. Blair and Tony McShane and Sandeep S Jayawant}, journal={Developmental medicine and child neurology}, year={2012}, volume={54 2}, pages={187-9} }