Mantovani J F, Vidgoff J, Cass M
Dev Med Child Neurol. 1985 Oct;27(5):664-7. doi: 10.1111/j.1469-8749.1985.tb14139.x.
A 14-year-old girl of Ashkenazi Jewish background is described who has severe deficiency of hexosaminidase A. She presented with slowly progressive motor neuron degeneration and was found to have subtle deficiencies on neuropsychological testing, abnormal cortical evoked potentials and structural abnormalities of the cerebellum on CT scan. This patient extends the reported clinical findings for adolescents and suggests the possibility of similar abnormalities in others with neuromuscular deterioration.
本文描述了一名具有阿什肯纳兹犹太背景的14岁女孩，她严重缺乏己糖胺酶A。她表现为缓慢进展的运动神经元变性，神经心理学测试发现有细微缺陷，皮质诱发电位异常，CT扫描显示小脑有结构异常。该患者扩展了已报道的青少年临床发现，并提示其他有神经肌肉退化的患者可能存在类似异常。
