The Brown‐Vialetto‐van Laere syndrome: a case report and literature review
作者:
R.J. Davenport,
C.J. Mumford,
期刊:
European Journal of Neurology
(WILEY Available online 1994)
卷期:
Volume 1,
issue 1
页码: 51-54
ISSN:1351-5101
年代: 1994
DOI:10.1111/j.1468-1331.1994.tb00050.x
出版商: Blackwell Publishing Ltd
关键词: Brown‐Vialetto‐van Laere syndrome;Deafness;Hereditary ponto‐bulbar neuronopathy;Motor neuron disease
数据来源: WILEY
摘要:
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 m
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