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J Pediatr Neurosci. 2018 Oct-Dec;13(4):471-473. doi: 10.4103/JPN.JPN_131_17.

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

Author information

1
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India.

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.

KEYWORDS:

Brown–Vialetto–Van Laere syndrome; Fazio–Londe syndrome; childhood motor neuron disease; riboflavin; riboflavin transporter defect

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