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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Detalles Bibliográficos
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
Descripción
Sumario: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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