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.
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