Brown-Vialetto-Van Laere syndrome, Fazio-Londe disease (A case report)
Iranian Journal of Child Neurology,
Vol. 18 No. 2 (2024),
12 March 2024
,
Page 141-146
https://doi.org/10.22037/ijcn.v18i2.37314
Abstract
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.
Keywords:
- Fazio Londe Syndrome, Hearing loss, Bulbar palsy, Riboflavin
How to Cite
Imannezhad, S., Ghayoor Karimiani, E., Sezavar , M., Khademi, G. R., Naseri, M., & Ashrafzadeh, F. (2024). Brown-Vialetto-Van Laere syndrome, Fazio-Londe disease (A case report). Iranian Journal of Child Neurology, 18(2), 141–146. https://doi.org/10.22037/ijcn.v18i2.37314
References
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8. Varadarajan, P.; Thayanathi, V.; Pauline, L. C., Fazio Londe syndrome: A treatable disorder. Ann Indian Acad Neurol 2015, 18 (1), 87-89.
9. Bosch, A. M.; Abeling, N. G.; Ijlst, L.; Knoester, H.; van der Pol, W. L.; Stroomer, A. E.; Wanders, R. J.; Visser, G.; Wijburg, F. A.; Duran, M.; Waterham, H. R., 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 (1), 159-64.
10. Haack, T. B.; Makowski, C.; Yao, Y.; Graf, E.; Hempel, M.; Wieland, T.; Tauer, U.; Ahting, U.; Mayr, J. A.; Freisinger, P.; Yoshimatsu, H.; Inui, K.; Strom, T. M.; Meitinger, T.; Yonezawa, A.; Prokisch, H., Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis 2012, 35 (6), 943-8.
2. Dipti, S.; Childs, A. M.; Livingston, J. H.; Aggarwal, A. K.; Miller, M.; Williams, C.; Crow, Y. J., Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev 2005, 27 (6), 443-6.
3. Bosch, A. M.; Stroek, K.; Abeling, N. G.; Waterham, H. R.; Ijlst, L.; Wanders, R. J. A., The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012, 7, 83-83.
4. Gowda, V. K.; Udhayabanu, T.; Varalakshmi, P.; Srinivasan, V. M.; Ashokkumar, B., Fazio-Londe syndrome in siblings from India with different phenotypes. Brain Dev 2018, 40 (7), 582-586.
5. Cali, E.; Dominik, N.; Manole, A.; Houlden, H., Riboflavin Transporter Deficiency. In GeneReviews(®), Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean, L. J. H.; Mirzaa, G.; Amemiya, A., Eds. University of Washington, Seattle
Copyright © 1993-2021, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.: Seattle (WA), 1993.
6. Johnson, J. O.; Gibbs, J. R.; Megarbane, A.; Urtizberea, J. A.; Hernandez, D. G.; Foley, A. R.; Arepalli, S.; Pandraud, A.; Simón-Sánchez, J.; Clayton, P.; Reilly, M. M.; Muntoni, F.; Abramzon, Y.; Houlden, H.; Singleton, A. B., Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012, 135 (Pt 9), 2875-82.
7. Udhayabanu, T.; Subramanian, V. S.; Teafatiller, T.; Gowda, V. K.; Raghavan, V. S.; Varalakshmi, P.; Said, H. M.; Ashokkumar, B., SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta 2016, 462, 210-214.
8. Varadarajan, P.; Thayanathi, V.; Pauline, L. C., Fazio Londe syndrome: A treatable disorder. Ann Indian Acad Neurol 2015, 18 (1), 87-89.
9. Bosch, A. M.; Abeling, N. G.; Ijlst, L.; Knoester, H.; van der Pol, W. L.; Stroomer, A. E.; Wanders, R. J.; Visser, G.; Wijburg, F. A.; Duran, M.; Waterham, H. R., 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 (1), 159-64.
10. Haack, T. B.; Makowski, C.; Yao, Y.; Graf, E.; Hempel, M.; Wieland, T.; Tauer, U.; Ahting, U.; Mayr, J. A.; Freisinger, P.; Yoshimatsu, H.; Inui, K.; Strom, T. M.; Meitinger, T.; Yonezawa, A.; Prokisch, H., Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J Inherit Metab Dis 2012, 35 (6), 943-8.
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