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

Roshan Koul, Rajeev Jain, Alexander Chacko, Amna Alfutaisi, Javad Hashim, Jacob Chacko

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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.

Original languageEnglish
Pages (from-to)523-525
Number of pages3
JournalJournal of Child Neurology
Issue number6
Publication statusPublished - Jun 2006


ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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