Abstract
Background:
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive
neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as
cerebellar involvement. Although sensorineural hearing loss, bulbar palsy, and optic atrophy are typical,
presentation may be variable and an atypical condition may be difficult to recognize clinically.
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