Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features

Eur J Paediatr Neurol. 2014 Mar;18(2):231-4. doi: 10.1016/j.ejpn.2013.09.006. Epub 2013 Oct 16.

Abstract

We report the case of a previously healthy child presenting at 6 months of age with mild feeding difficulties and then developing hypotonia, progressive bulbar palsy with respiratory compromise and lower motor neuron signs, causing her to spend 4 months in the Paediatric Intensive Care Unit. Neurophysiological studies demonstrated a motor neuronopathy involving anterior horn cells and cranial nerve nuclei and abnormal brainstem auditory evoked potentials, leading to a diagnosis of Brown-Vialetto-van Laere Syndrome, confirmed by genetic testing (SLC52A3). Magnetic Resonance Imaging showed signal changes in the dorsal column of the spinal cord. She developed a coarse face and abnormal hair pattern. Sustained clinical improvement has been observed during almost 4 years of high-dose riboflavin therapy.

Keywords: Brown-Vialetto-van Laere syndrome; Coarse face; DTI; Kinky hair; Riboflavin; SLC52A3; hRFT2.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bulbar Palsy, Progressive / diagnosis*
  • Bulbar Palsy, Progressive / drug therapy*
  • Bulbar Palsy, Progressive / genetics*
  • Child
  • Female
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / drug therapy*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant
  • Membrane Transport Proteins / genetics*
  • Mutation
  • Riboflavin / therapeutic use*

Substances

  • Membrane Transport Proteins
  • SLC52A3 protein, human
  • Riboflavin

Supplementary concepts

  • Brown-Vialetto-Van Laere syndrome