Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

Abstract

The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 genotype. However, the pathomechanisms underlying BVVLS are still unknown. Here we present the particular disease course with partial response to immunosuppressive therapy of our BVVLS patient for whom we hypothesize that dysimmune factors may have played a role in disease physiopathology.

Key words::

• Genetics
• cranial neuropathy
• sensorineural deafness
• Brown-Vialetto-Van Laere syndrome
• C20orf54 gene

Acknowledgements

We wish to thank the patient, who gave written consent for publication, and his family.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

The research was supported by a grant from the Department of Health – Current Research 2010 of the Mondino Institute to CC, and Telethon and Italian Ministry of Health to AS.