کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8690903 1581337 2018 17 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa
ترجمه فارسی عنوان
اولین مورد کمبود حمل و نقل ریبوفلاوین در کشورهای جنوب صحرای آفریقا
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Pediatric Neurology - Volume 26, July 2018, Pages 10-14
نویسندگان
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