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Background: Brown-Vialetto-Van Laere syndrome is an autosomal recessive riboflavin transporter deficiency syndrome. It has been described in various populations but not yet in East Africa.
Case Report: In a patient who was admitted with aspiration pneumonia, SLC52A3 gene screening was performed based on a combination of bulbar weakness, ptosis, tongue wasting, and hyperreflexia, which is compatible with Brown-Vialetto-Van Laere syndrome. A heterozygous pathogenic SLC52A3 variant and a heterozygous variant of unknown significance in cis were identified but no second potential pathogenic variant was found. There was notable clinical improvement with riboflavin supplementation.
Discussion: Our findings widen the geographical distribution of this rare condition. It illustrates the clinical recognizability of this rare, treatable movement disorder in low-resource areas.


Brown-Vialetto-Van Laere syndrome SLC52A3 RFT2 Riboflavin Motor Neuron Disease Africa

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How to Cite
Sadiq, A., Suleiman, J., Assey, E., Mavura, D., Shija, P., Waterham, H., Hamel, B., Willemsen, M., Howlett, W., & Dekker, M. (2023). BVVL Syndrome in East-Africa: A Treatable Disorder of Riboflavin Metabolism not to be missed. Journal of the International Child Neurology Association, 1(1).


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