Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndro...

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Autores principales: Hossain, Mohammad Arif, Obaid, Abdulrahman, Rifai, Mohammad, Alem, Hala, Hazwani, Tarek, Al Shehri, Ali, Alfadhel, Majid, Eto, Yoshikatsu, Eyaid, Wafaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444338/
https://www.ncbi.nlm.nih.gov/pubmed/28580161
http://dx.doi.org/10.1038/hgv.2017.18
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author Hossain, Mohammad Arif
Obaid, Abdulrahman
Rifai, Mohammad
Alem, Hala
Hazwani, Tarek
Al Shehri, Ali
Alfadhel, Majid
Eto, Yoshikatsu
Eyaid, Wafaa
author_facet Hossain, Mohammad Arif
Obaid, Abdulrahman
Rifai, Mohammad
Alem, Hala
Hazwani, Tarek
Al Shehri, Ali
Alfadhel, Majid
Eto, Yoshikatsu
Eyaid, Wafaa
author_sort Hossain, Mohammad Arif
collection PubMed
description Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.
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spelling pubmed-54443382017-06-02 Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula Hossain, Mohammad Arif Obaid, Abdulrahman Rifai, Mohammad Alem, Hala Hazwani, Tarek Al Shehri, Ali Alfadhel, Majid Eto, Yoshikatsu Eyaid, Wafaa Hum Genome Var Data Report Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age. Nature Publishing Group 2017-05-25 /pmc/articles/PMC5444338/ /pubmed/28580161 http://dx.doi.org/10.1038/hgv.2017.18 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Hossain, Mohammad Arif
Obaid, Abdulrahman
Rifai, Mohammad
Alem, Hala
Hazwani, Tarek
Al Shehri, Ali
Alfadhel, Majid
Eto, Yoshikatsu
Eyaid, Wafaa
Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
title Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
title_full Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
title_fullStr Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
title_full_unstemmed Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
title_short Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
title_sort early onset of fazio-londe syndrome: the first case report from the arabian peninsula
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444338/
https://www.ncbi.nlm.nih.gov/pubmed/28580161
http://dx.doi.org/10.1038/hgv.2017.18
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