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 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 - Category: Neurology Authors: Shaakira Chaya, Marco Zampoli, Diane Gray, Jane Booth, Gillian Riordan, Alvin Ndondo, Karen Fieggen, Jody Rusch, George van der Watt, Komala Pillay, Francois van der Westhuizen, Manoj Menezes, Jo Wilmshurst Source Type: research
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