The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
Semin Pediatr Neurol
; 26: 10-14, 2018 07.
Article
em En
| MEDLINE
| ID: mdl-29961494
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paralisia Bulbar Progressiva
/
Proteínas de Membrana Transportadoras
/
Perda Auditiva Neurossensorial
Limite:
Humans
/
Infant
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
Semin Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2018
Tipo de documento:
Article