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The Brown-Vialetto-van Laere syndrome: a case report and literature review.
European Journal of Neurology 1994 September
We describe a female presenting with a progressive bulbar palsy, deafness and respiratory failure necessitating long-term ventilation. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome, a rare, sometimes inherited progressive ponto-bulbar neuronopathy with associated deafness. This case provides further evidence of the genetic heterogeneity of the syndrome and we describe a previously unreported form of treatment which had negative results. We suggest that improved recognition of this rare syndrome is essential to provide aetiological clues and we describe the worthwhile symptomatic improvement which can be achieved with simple supportive measures.
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