Francis D A, Ponsford J R, Wiles C M, Thomas P K, Duchen L W
National Hospital for Nervous Diseases, London.
Neuropathol Appl Neurobiol. 1993 Feb;19(1):91-4. doi: 10.1111/j.1365-2990.1993.tb00409.x.
The clinical and pathological findings of a male with the Brown-Vialetto-Van Laere syndrome are described. This rare and fatal affection of the nervous system involves mainly the brain stem with the prominent and early manifestation of sensorineural deafness. Increased awareness and documentation of this disorder has added information on the mode of inheritance.
本文描述了一名患有布朗 - 维阿莱托 - 范拉尔综合征男性患者的临床和病理表现。这种罕见的致命性神经系统疾病主要累及脑干,以感音神经性耳聋为突出且早期的表现。对该疾病认识的提高及病例记录增加了有关其遗传方式的信息。