Brown Vialetto van Laere (BVVL) syndrome: management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Brown Vialetto van Laere (BVVL) syndrome: management. Brainstem, Cerebellar peduncles, Internal capsule. Fully referenced neurology checklist.
Magnetic resonance imaging (MRI): sites of high signal changes
- Brainstem
- Cerebellar peduncles
- Internal capsule
- Subcortical white matter
- Lower cranial nerve nuclei
- Anterior horns
Magnetic resonance imaging (MRI): sites of atrophy
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Blood investigations
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Genetic diagnosis
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Treatment: riboflavin
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Treatment: others
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Synonym
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References
- Menezes MP, O'Brien K, Hill M, et al. Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. Dev Med Child Neurol 2016; 58:848-854.
- Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis 2016; 39:559-564.
- Foley AR, Menezes MP, Pandraud A, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2014; 137:44-56.
- do Amaral MSA, Massuda ET, Mitikami Fenólio GH, Barbosa Reis ACM, Angelo Hyppolito M. Cochlear implant in Brown-Vialetto-Van Laere syndrome patient. J Int Adv Otol 2022; 18:192-195.
