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Semin Pediatr Neurol. 2018 Jul;26:10-14. doi: 10.1016/j.spen.2017.03.002. Epub 2017 Apr 4.

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.

Author information

1
Division of Paediatric Pulmonology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa. Electronic address: Shaakira.chaya@gmail.com.
2
Division of Paediatric Pulmonology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.
3
Division of Paediatric Neurology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.
4
Division of Human Genetics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.
5
Division of Chemical Pathology, National Health Laboratory Services University of Cape Town, Cape Town, South Africa.
6
Division of Anatomical Pathology, National Health Laboratory Services and University of Cape Town, Cape Town, South Africa.
7
Department of Biochemistry, North West University, Potchefstroom, South Africa.
8
Institute of Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Sydney Medical School, The University of Sydney, Sydney, New south Wales, Australia.

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.

PMID:
29961494
DOI:
10.1016/j.spen.2017.03.002
[Indexed for MEDLINE]

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