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Abstract
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.
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Copyright (c) 2023 Abid Sadiq, Jamil Suleiman, Emmanuel Assey, Daudi Mavura, Peter Shija, Hans Waterham, Ben Hamel, Michel Willemsen, William Howlett, Marieke Dekker
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References
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- Brown CH. Infantile Amyotrophic Lateral Sclerosis of the Family Type. J Nerv Ment Dis 1894;21:707–16. https://doi.org/10.1097/00005053-189411000-00003.
- Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin J-P, et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 2010;86:485–9. https://doi.org/10.1016/j.ajhg.2010.02.006.
- Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 2017;140:2820–37. https://doi.org/10.1093/brain/awx231.
- Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis 2016;39:559–64. https://doi.org/10.1007/s10545-016-9924-2.
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- SLC52A3. Hum Protein Atlas n.d. https://www.proteinatlas.org/ENSG00000101276-SLC52A3 (accessed January 22, 2022).
References
Voudris KA, Skardoutsou A, Vagiakou EA. Infantile progressive bulbar palsy with deafness. Brain Dev 2002;24:732–5. https://doi.org/10.1016/s0387-7604(02)00085-2.
Bosch AM, Abeling NGGM, IJlst L, Knoester H, van der Pol WL, Stroomer AEM, et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011;34:159–64. https://doi.org/10.1007/s10545-010-9242-z.
Brown CH. Infantile Amyotrophic Lateral Sclerosis of the Family Type. J Nerv Ment Dis 1894;21:707–16. https://doi.org/10.1097/00005053-189411000-00003.
Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin J-P, et al. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet 2010;86:485–9. https://doi.org/10.1016/j.ajhg.2010.02.006.
Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain 2017;140:2820–37. https://doi.org/10.1093/brain/awx231.
Jaeger B, Bosch AM. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. J Inherit Metab Dis 2016;39:559–64. https://doi.org/10.1007/s10545-016-9924-2.
Chaya S, Zampoli M, Gray D, Booth J, Riordan G, Ndondo A, et al. The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. Semin Pediatr Neurol 2018;26:10–4. https://doi.org/10.1016/j.spen.2017.03.002.
Dekker MCJ, Urasa SJ, Howlett WP. Neurological letter from Kilimanjaro. Pract Neurol 2017;17:412–6. https://doi.org/10.1136/practneurol-2017-001693.
SLC52A3. Hum Protein Atlas n.d. https://www.proteinatlas.org/ENSG00000101276-SLC52A3 (accessed January 22, 2022).