Brown Vialetto van Laere (BVVL) syndrome: management
Evidence-based neurology checklist on brown vialetto van laere (bvvl) syndrome: management: 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…
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
Blood investigations
Genetic diagnosis
Treatment: riboflavin
Treatment: others
Synonym
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.
