Fazio Londe syndrome: A treatable disorder

Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some chil...

Descripción completa

Detalles Bibliográficos
Autores principales: Varadarajan, Poovazhagi, Thayanathi, Vimal, Pauline, Leema C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350224/
https://www.ncbi.nlm.nih.gov/pubmed/25745320
http://dx.doi.org/10.4103/0972-2327.144283
_version_ 1782360160928268288
author Varadarajan, Poovazhagi
Thayanathi, Vimal
Pauline, Leema C.
author_facet Varadarajan, Poovazhagi
Thayanathi, Vimal
Pauline, Leema C.
author_sort Varadarajan, Poovazhagi
collection PubMed
description Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some children. We report an 11-year-old child with features of Fazio Londe syndrome who presented to our Institute with respiratory failure.
format Online
Article
Text
id pubmed-4350224
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-43502242015-03-05 Fazio Londe syndrome: A treatable disorder Varadarajan, Poovazhagi Thayanathi, Vimal Pauline, Leema C. Ann Indian Acad Neurol Case Report Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some children. We report an 11-year-old child with features of Fazio Londe syndrome who presented to our Institute with respiratory failure. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4350224/ /pubmed/25745320 http://dx.doi.org/10.4103/0972-2327.144283 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Varadarajan, Poovazhagi
Thayanathi, Vimal
Pauline, Leema C.
Fazio Londe syndrome: A treatable disorder
title Fazio Londe syndrome: A treatable disorder
title_full Fazio Londe syndrome: A treatable disorder
title_fullStr Fazio Londe syndrome: A treatable disorder
title_full_unstemmed Fazio Londe syndrome: A treatable disorder
title_short Fazio Londe syndrome: A treatable disorder
title_sort fazio londe syndrome: a treatable disorder
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350224/
https://www.ncbi.nlm.nih.gov/pubmed/25745320
http://dx.doi.org/10.4103/0972-2327.144283
work_keys_str_mv AT varadarajanpoovazhagi faziolondesyndromeatreatabledisorder
AT thayanathivimal faziolondesyndromeatreatabledisorder
AT paulineleemac faziolondesyndromeatreatabledisorder

Ejemplares similares