Neuropediatrics 2014; 45 - fp034
DOI: 10.1055/s-0034-1390539

Brown-Vialetto-Van Laere Syndrome: Clinical Course under High-Dose Riboflavin over 2 Years

C. Makowski 1, T. Haack 2, H. Prokisch 2, S. Burdach 1
  • 1Kinderklinik München-Schwabing, Technische Universität München, Neuropädiatrie, München, Germany
  • 2Institut für Humangenetik, Technische Universität München, München, Germany

Case: We present the case of a now 7-year-old girl with genetically confirmed Brown-Vialetto-Van Laere syndrome. Initial symptoms started at 3 years of age with ataxia, chaotic eye movements, speech arrest, and behavioral problems, later, we observed sensorineural deafness, optic atrophy, and a facial palsy. With exome sequencing, we found compound heterozygous missense mutations in the SLC52A2 gene which is associated with Brown-Vialetto-Van Laere syndrome. SLC52A2 code for the human riboflavin transporter 2 (hRFT2), which is thought to play a crucial role in brain riboflavin metabolism. Overexpression studies confirmed that the gene products of both mutant alleles have reduced riboflavin transport activities. We started a high-dose riboflavin treatment up to a maximum dose of 50 mg/kg/d with good tolerability now over 2 years. Clinical effect was stabilization and a better outcome in strength and fine motor skills.

Conclusion: Brown-Vialetto-Van Laere syndrome is a potential treatable disease with the main symptoms ataxia, optic atrophy, sensorineural deafness, and facial palsy. Molecular testing should be performed early to because high-dose riboflavin treatment can positively influence the course of the disease.