Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome
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DOI：
10.1016/j.nmd.2005.05.003
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发表时间：
2005-08-01
影响因子：
2.8
通讯作者：
Cudia, P
中科院分区：
文献类型：
--
作者：
De Grandis, D;Passadore, P;Cudia, P
Brown-Vialetto-Van Laere综合征是一种罕见的原因不明的疾病，通常被认为是运动神经元病的一部分。病程变化很大：它可能很快致命或旷日持久，复发阶段之后是发作阶段，甚至部分好转。我们描述一例布朗-维亚莱托-范莱尔综合征，有强烈的感觉神经性听力障碍家族病史。这位病人因严重的呼吸衰竭和腿部无力而来到我们的医疗中心。临床症状部分改善，自主呼吸恢复，肌力轻度增加。对我们的病人进行的神经生理学检查显示有神经损伤的证据，随后有所改善。我们的研究提出了这种疾病是由于初级神经损害的可能性，这可以更好地证明疾病的间歇性病程、部分临床退化和神经生理改善，这在典型的运动神经元疾病中从未检测到。(C)2005 Elsevier B.V.保留所有权利。
Brown-Vialetto-Van Laere syndrome is a rare disease of unknown origin commonly considered as part of the large group of motor neuron diseases. The course is quite variable: it may be quickly fatal or protracted, with relapsing phases followed by periods of arrest and even partial improvement. We describe a case of Brown-Vialetto-Van Laere syndrome with strong family history for sensorineural hearing impairment. The patient came to our medical attention for severe respiratory failure and leg weakness. The clinical conditions partially improved with recovery of spontaneous respiration and mild increase in muscle strength. The neurophysiological studies performed on our patient showed evidence of nerve damage with subsequent improvement. Our study raises the possibility that the disorder is due to primary nerve damage, which can better justify the intermittent course of the disease, the partial clinical regression and the neurophysiological improvement, never detected in typical motor neuron disorders. (c) 2005 Elsevier B.V. All rights reserved.