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.
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Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy.
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From the Department of Ophthalmology and Visual Sciences (M.A.O.), Division of Genetics and Genomic Medicine (M.S.S.), and Division of Pediatric and Developmental Neurology (C.M.Z.), Washington University School of Medicine, St. Louis, MO; Graduate Medical Education Office (S.M.C.) and Department of Ophthalmology and Visual Neurosciences (S.M.C.), University of Minnesota Medical School, Minneapolis.
Riboflavin transporter deficiency (RTD), previously referred to as Brown-Vialetto-Van Laere syndrome, is caused by pathogenic variants in the , , or genes, resulting in RTD types 1, 2, and 3, respectively. Researchers estimate an occurrence of approximately 1 in 1,000,000. There is only one case of type 1 described in medical literature.
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Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
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School of Biology, College of Science, University of Tehran, Enghelab Ave, Tehran, Iran.
Introduction: Riboflavin Transporter Deficiency (RTD) is a rare neurological disorder characterized by pontobulbar palsy, hearing loss, and motor cranial nerve involvement. SLC52A3 and SLC52A2 mutations are causes of RTD. SLC52A2 mutations are usually found in childhood onset cases.
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