| CASE REPORTS
|Year : 2018 | Volume
| Issue : 4 | Page : 471-473
Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome
Meenal Garg, Shilpa D Kulkarni, Anaita U Hegde, Krishnakumar N Shah
Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra, India
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.
Dr. Meenal Garg
EEG Room, Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, Maharashtra - 400012.
Source of Support: None, Conflict of Interest: None
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