Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy. It is caused by mutations in the riboflavin transporter genes SLC52A2 (RFVT2) or SLC52A3 (RFVT3). It is a rare syndrome with approximately 70 cases repo...

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified ...

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder. we report our finding about four patients clinically and electrophysiologically diagnosed as bvvls and denoted their clinical features with comparison to previous reports. the first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. our patients represented som...

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 sequ...

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare type of motor neuron disease, characterized by bilateral deafness, and multiple cranial nerve involvement. The disease is more frequent in females, but rapid deterioration was attributed to male gender or early onset. Herein, we report a man with BVVLS who had a longer than expected interval between onset of deafness and other motor symptoms t...

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder. We report our finding about four patients clinically and electrophysiologically diagnosed as BVVLS and denoted their clinical features with comparison to previous reports. The first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. Our patients represented som...