Brown Vialetto van Laere (BVVL) syndrome: clinical features
Evidence-based neurology checklist on brown vialetto van laere (bvvl) syndrome: clinical features: Neurological phenotype Ataxia Optic atrophy Respiratory impairment Central neurological features Peripheral neurological features Ophthalmic features Systemic features Differential diagnosis Synonym
Neurological phenotype
- Ataxia
- Optic atrophy
- Respiratory impairment
Central neurological features
Peripheral neurological features
Ophthalmic features
Systemic features
Differential diagnosis
Synonym
References
- Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 2008; 3:9.
- Foley AR, Menezes MP, Pandraud A, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2014; 137:44-56.
- 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.
- Cosgrove J, Datta S, Busby M. Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. Clin Neurol Neurosurg 2015; 128:1-3.
- Manole A, Jaunmuktane Z, Hargreaves I, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 2017; 140:2820-2837.
- And 5 more. Subscribe to see the full list
