The first Case of Riboflavin Transporter Deficiency in Sub-Saharan Africa

This report describes the first case of a child with genetically confirmed Brown-Vialetto-Van Laere syndrome (BVVL) in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis. It is an autosomal recessive condition for which the genetic mutation has only recently been linked to a riboflavin transporter deficiency. We describe an 11 month old affected male infant.

Source: Seminars in Pediatric Neurology - April 4, 2017 Category: Neurology Authors: S. Chaya, M. Zampoli, D. Gray, J. Booth, G. Riordan, A. Ndondo, K. Fieggen, J.A. Rusch, G. van der Watt, K. Pillay, F.H. van der Westhuizen, M. Menezes, J.M. Wilmshurst Source Type: research