Article
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
Seminars in pediatric neurology - 1 Jul 2018
Chaya Shaakira, Zampoli Marco, Gray Diane, Booth Jane, Riordan Gillian, Ndondo Alvin, Fieggen Karen, Rusch Jody, van der Watt George, Pillay Komala, van der Westhuizen Francois, Menezes Manoj, Wilmshurst Jo
Abstract excerpt
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...
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