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Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome.

Research paper by Meenal M Garg, Shilpa D SD Kulkarni, Anaita U AU Hegde, Krishnakumar N KN Shah

Indexed on: 14 Jun '19Published on: 03 Apr '19Published in: Journal of pediatric neurosciences



Abstract

Brown-Vialetto-Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio-Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter genes. We describe a child with genetically proven BVVL syndrome where prompt treatment with riboflavin showed good results.