Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

We present cases of both types of riboflavin transporter deficiency, highlighting the distinguishing clinical features of a rapidly progressive motor or sensorimotor axonal neuropathy, optic atrophy, sensorineural hearing loss, and bulbar dysfunction.

Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: Ian R. Woodcock, Manoj P. Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M. White, Rachel Stapleton, Dean G. Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M. Ryan, Colin Robertson, Eppie M. Yiu Source Type: research