Article
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation.
BMJ case reports - 27 Jun 2018
Abbas Qalab, Jafri Sidra Kaleem, Ishaque Sidra, Rahman Arshalooz Jamila
Abstract excerpt
Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a novel homozygous mutation from Pakistan. Our patient presented with stridor and respiratory insufficiency. Hearing loss...
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