Fazio Londe syndrome: A treatable disorder.
Journal: Annals Of Indian Academy Of Neurology
Published:
Abstract
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.
Authors
Poovazhagi Varadarajan, Vimal Thayanathi, Leema Pauline
Relevant Conditions