Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome

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 prov...

Descripción completa

Detalles Bibliográficos
Autores principales: Garg, Meenal, Kulkarni, Shilpa D., Hegde, Anaita U., Shah, Krishnakumar N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413615/
https://www.ncbi.nlm.nih.gov/pubmed/30937093
http://dx.doi.org/10.4103/JPN.JPN_131_17
_version_ 1783402854372868096
author Garg, Meenal
Kulkarni, Shilpa D.
Hegde, Anaita U.
Shah, Krishnakumar N.
author_facet Garg, Meenal
Kulkarni, Shilpa D.
Hegde, Anaita U.
Shah, Krishnakumar N.
author_sort Garg, Meenal
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6413615
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-64136152019-04-01 Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome Garg, Meenal Kulkarni, Shilpa D. Hegde, Anaita U. Shah, Krishnakumar N. J Pediatr Neurosci Case Reports 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. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC6413615/ /pubmed/30937093 http://dx.doi.org/10.4103/JPN.JPN_131_17 Text en Copyright: © 2019 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Garg, Meenal
Kulkarni, Shilpa D.
Hegde, Anaita U.
Shah, Krishnakumar N.
Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
title Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
title_full Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
title_fullStr Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
title_full_unstemmed Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
title_short Riboflavin Treatment in Genetically Proven Brown–Vialetto–Van Laere Syndrome
title_sort riboflavin treatment in genetically proven brown–vialetto–van laere syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413615/
https://www.ncbi.nlm.nih.gov/pubmed/30937093
http://dx.doi.org/10.4103/JPN.JPN_131_17
work_keys_str_mv AT gargmeenal riboflavintreatmentingeneticallyprovenbrownvialettovanlaeresyndrome
AT kulkarnishilpad riboflavintreatmentingeneticallyprovenbrownvialettovanlaeresyndrome
AT hegdeanaitau riboflavintreatmentingeneticallyprovenbrownvialettovanlaeresyndrome
AT shahkrishnakumarn riboflavintreatmentingeneticallyprovenbrownvialettovanlaeresyndrome

Ejemplares similares