Article Text
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.
- NEUROGENETICS
- NEUROMUSCULAR
- SPEECH
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Footnotes
Contributors JB wrote the article with editing from FC and CS. CS is the patient's consultant neurologist.
Funding This research was funded principally by a grant from the Medical Research Council (MR/L021803/1) to CES, The Sattaripour Foundation and the Motor Neurone Disease Association (Shaw/JuI15/932-794) to JB, with additional support from The Heaton Ellis Trust and American Amyotrophic Lateral Sclerosis Association. CES receives salary support from the National Institute for Health Research (NIHR) Dementia Biomedical Research Unit at South London and Maudsley NHS Foundation Trust and King's College London.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Mark Wiles, London, UK.
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