Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome.
| Autor: | Garg M; Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India., Kulkarni SD; Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India., Hegde AU; Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India., Shah KN; Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric neurosciences [J Pediatr Neurosci] 2018 Oct-Dec; Vol. 13 (4), pp. 471-473. |
| DOI: | 10.4103/JPN.JPN_131_17 |
| Abstrakt: | 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. Competing Interests: There are no conflicts of interest. |
| Databáze: | MEDLINE |
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