Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings

J Child Neurol. 2006 Jun;21(6):523-5. doi: 10.1177/08830738060210060501.

Abstract

Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen. In addition, we observed that early onset was associated with rapid deterioration and death. Optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two new features described in this report.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain Stem / pathology*
  • Bulbar Palsy, Progressive / pathology*
  • Child
  • Female
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Optic Nerve / pathology*
  • Pedigree
  • Syndrome