Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.

Abstract

Brown-Vialetto-Van Laere syndrome (Online Mendelian Inheritance in Man number 211530) is a neurodegenerative disorder characterized by pontobulbar palsy affecting cranial nerves (mainly VII-XII). Sensorineural deafness is often the leading sign, followed by other neurologic signs. Inheritance is often autosomal recessive, with mutations in the C20orf54 gene (Online Mendelian Inheritance in Man number 613350). Three previous patients with mutations in the C20orf54 gene and clinical signs of Brown-Vialetto-Van Laere or Fazio-Londe syndrome revealed a metabolic profile suggesting a multiple acyl-coenzyme A dehydrogenase defect. They benefited from riboflavin. We describe a 3-year-old girl with early-onset Brown-Vialetto-Van Laere syndrome and a novel mutation in the C20orf54 gene (c.989G>T). On T(2)-weighted imaging, increased signal intensity of the vestibular nuclei bilaterally, the pedunculus cerebellaris superior and the central tegmental tract were observed during acute clinical deterioration. Her metabolic profile was normal. Trials with steroids, immunoglobulins, and riboflavin produced no effect. The patient recovered slowly during subsequent months, with residual deficits. Brown-Vialetto-Van Laere syndrome should be considered in patients with sensorineural hearing loss and pontobulbar palsy. Patients should be screened for riboflavin deficiency and a therapy with riboflavin may provide effective treatment in some affected patients.

• Authors: Anne Koy, Frank Pillekamp, Thomas Hoehn, Hans Waterham, Dirk Klee, Ertan Mayatepek, Birgit Assmann
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 46 Issue 6 Pg. 407-9 (Jun 2012) ISSN: 1873-5150 [Electronic] United States
• PMID: 22633641 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2012 Elsevier Inc. All rights reserved.

Chemical References

• Membrane Transport Proteins
• SLC52A3 protein, human
• Riboflavin

Topics

• Bulbar Palsy, Progressive (diagnosis, drug therapy, genetics)
• Child, Preschool
• Female
• Hearing Loss, Sensorineural (diagnosis, drug therapy, genetics)
• Humans
• Membrane Transport Proteins (genetics)
• Mutation (genetics)
• Riboflavin (therapeutic use)