文摘
我们确定了9个孩子的脑白质病相似类型根据临床和MRI发现。受影响的病人包括三兄弟对。年龄范围是3 - 19年。疾病的发病是在童年;课程既chronic-progressive和情景性。有事件恶化感染和轻微的头部创伤后,这些可能导致无法解释的昏迷。在八个晚期疾病,患者MRI显示弥漫性脑半球脑白质病,增加区域的白质异常信号强度接近CSF在所有脉冲序列。在一个病人在疾病的早期阶段,初始异常MRI显示弥漫性脑白质,只有达到CSF的信号特征在稍后的阶段。在病人的疾病是先进的,核磁共振光谱(夫人)白质显示一个几乎完全消失,所有正常信号和葡萄糖和乳酸,兼容的存在主要是脑脊液和脑组织。光谱的皮质是更好的保存。 However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involvement of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known.
- 版权1997年由美国神经病学学会半岛投注体育官网
