A new leukodystrophy with brainstem and spinal cord involvement and high lactate
A new leukodystrophy with brainstem and spinal cord involvement and high lactate
复制标题
DOI：
10.1002/ana.10456
复制
发表时间：
2003-02-01
影响因子：
11.2
通讯作者：
Pouwels, PJW
中科院分区：
文献类型：
--
作者：
van der Knaap, MS;van der Voorn, P;Pouwels, PJW
我们确定了 8 名患者，其磁共振成像模式具有明显的不均匀脑白质异常以及脑干和脊髓束选择性受累的特征。质子磁共振成像显示异常白质中的乳酸增加。临床上，患者有缓慢进展的锥体、小脑和背柱功能障碍。均匀、高度特征性的磁共振成像模式以及临床和磁共振波谱结果的相似性为新的疾病实体提供了证据。常染色体隐性遗传很可能。
We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely.