Amagasaki K, Shimizu T, Suzuki Y, Kakizawa T
Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan.
J Neurosurg. 2001 Jan;94(1):133-6. doi: 10.3171/jns.2001.94.1.0133.
A 28-year-old woman presented with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The diagnosis was based on the results of molecular genetic analysis, which indicated a typical point mutation at the nucleotide pair 3243. Xenon computerized tomography scans obtained during the strokelike episodes revealed the lesion responsible for the symptoms to be an area of focal hyperperfusion, and scans obtained after the episodes revealed an area of hypoperfusion. Pathogenesis of the strokelike episodes appears to be metabolic dysfunction, although the involvement of a vascular event cannot be excluded.
一名28岁女性出现线粒体肌病、脑病、乳酸性酸中毒和类卒中发作（MELAS）。诊断基于分子遗传学分析结果，该结果显示在核苷酸对3243处存在典型的点突变。在类卒中发作期间进行的氙计算机断层扫描显示，导致症状的病变是局灶性高灌注区域，发作后扫描显示为低灌注区域。尽管不能排除血管事件的参与，但类卒中发作的发病机制似乎是代谢功能障碍。
