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

Mohammad Arif Hossain; Abdulrahman Obaid; Mohammad Rifai; Hala Alem; Tarek Hazwani; Ali Al Shehri; Majid Alfadhel; Yoshikatsu Eto; Wafaa Eyaid

doi:10.1038/hgv.2017.18

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

Hum Genome Var. 2017 May 25:4:17018. doi: 10.1038/hgv.2017.18. eCollection 2017.

Authors

Mohammad Arif Hossain^{1

2

3}, Abdulrahman Obaid^{1

4

5}, Mohammad Rifai^{1

4

5}, Hala Alem^{1

4

5}, Tarek Hazwani^{1

4

5}, Ali Al Shehri^{1

4

5}, Majid Alfadhel^{1

4

5}, Yoshikatsu Eto^{2

3}, Wafaa Eyaid^{1

4

5}

Affiliations

¹ Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.
² Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kanagawa, Japan.
³ Department of Gene Therapy, Institute for DNA Medicine, The Jikei University School of Medicine, Tokyo, Japan.
⁴ King Saud Bin Abdul-Aziz University for Health Science, Riyadh, Saudi Arabia.
⁵ King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

Abstract

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.