Article

Autosomal Dominant Brown-Vialetto-Van Laere Syndrome: A New Case and Systematic Review of a Treatable Neurometabolic Disorder

2026-02-05

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Brown-Vialetto-Van Laere (BVVL) syndrome is a rare neurodegenerative disorder caused by mutations in <italic>SLC52A2</italic> or <italic>SLC52A3</italic> , impairing riboflavin transport. It typically presents with sensorineural hearing loss, progressive ponto-bulbar palsy, peripheral neuropathy, and occasional respiratory compromise. While most cases fo...

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Literature Corpus work: 8456f7e2-d928-5a27-baf4-373c6eb1cd6c
DOI: 10.21203/rs.3.rs-7962138/v1

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