Successful treatment of a geneticchildhood ataxia due to riboflavintransporter deficiency



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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News of successful treatment is always welcome :slightly_smiling_face: xB

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