1. The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
- Author
-
Chaya S, Zampoli M, Gray D, Booth J, Riordan G, Ndondo A, Fieggen K, Rusch J, van der Watt G, Pillay K, van der Westhuizen F, Menezes M, and Wilmshurst J
- Subjects
- Africa South of the Sahara, Bulbar Palsy, Progressive genetics, Bulbar Palsy, Progressive pathology, Bulbar Palsy, Progressive physiopathology, Dietary Supplements, Hearing Loss, Sensorineural genetics, Hearing Loss, Sensorineural pathology, Hearing Loss, Sensorineural physiopathology, Humans, Infant, Male, Phenotype, Riboflavin administration & dosage, Bulbar Palsy, Progressive therapy, Hearing Loss, Sensorineural therapy, Membrane Transport Proteins deficiency, Membrane Transport Proteins genetics
- Abstract
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. He has required long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he had limited recovery of motor function. His respiratory chain enzyme studies were abnormal suggestive of mitochondrial (mt) dysfunction. In the setting of limited resources, recognition of this striking clinical phenotype is important to highlight, specifically regarding the genetic implications of the condition and the potentially remedial response to vitamin supplementation., (Copyright © 2017 Elsevier Inc. All rights reserved.)
- Published
- 2018
- Full Text
- View/download PDF