Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2017 Jan;17(1):53-56.
doi: 10.1136/practneurol-2016-001488. Epub 2016 Oct 24.

Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome

James A Bashford  1 , Fahmida A Chowdhury  2 , Chris E Shaw  1
Affiliations
Case Reports

Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome

James A Bashford et al. Pract Neurol. 2017 Jan.

Abstract

The clinical diagnosis of Brown-Vialetto-Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy. This resulted in a dramatic improvement in her motor function from being anarthric, dysphagic, tetraparetic and in ventilatory failure to living independently with mild dysarthria and distal limb weakness. DNA sequencing of the SLC52A3 gene found compound heterozygous C-terminus mutations, V413A1/D461Y, consistent with recent reports of mutations within the riboflavin transporter genes (SLC52A2 and SLC52A3) in this condition. Early diagnosis and empirical riboflavin therapy can lead to major motor recovery in this condition, that can be sustained with long-term maintenance therapy.

Keywords: NEUROGENETICS; NEUROMUSCULAR; SPEECH.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Green P, Wiseman M, Crow YJ, et al. . Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 2010;86:485–9. 10.1016/j.ajhg.2010.02.006 - DOI - PMC - PubMed
    1. Sathasivam S. Brown-vialetto-van laere syndrome. Orphanet J Rare Dis 2008;3:9 10.1186/1750-1172-3-9 - DOI - PMC - PubMed
    1. Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis 2016;39:559–64. 10.1007/s10545-016-9924-2 - DOI - PMC - PubMed
    1. Bosch AM, Stroek K, Abeling NG, et al. . The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012;7:83 10.1186/1750-1172-7-83 - DOI - PMC - PubMed
    1. Johnson JO, Gibbs JR, Megarbane A, et al. . Exome sequencing reveals riboflavin transporter mutations as a cause of motor neurone disease. Brain 2012;135(Pt 9):2875–82. 10.1093/brain/aws161 - DOI - PMC - PubMed

Publication types

MeSH terms

Supplementary concepts