Warmuth-Metz M, Hofmann E, Büsse M, Solymosi L
Department of Neuroradiology, University of Würzburg, Germany.
AJNR Am J Neuroradiol. 1999 Jun-Jul;20(6):1158-60.
We describe a 4-month-old male patient with severe developmental delay and elevated lactate in blood and CSF. The MR images showed abnormalities differing from the typical pattern found in association with Leigh's disease. The examination of fibroblast cultures showed diminished activity of mitochondrial complexes I and III. The patient died at the age of 9 months.
我们描述了一名4个月大的男性患者，其患有严重的发育迟缓，血液和脑脊液中的乳酸水平升高。磁共振成像（MR）显示异常，与 Leigh 病相关的典型模式不同。对成纤维细胞培养物的检查显示线粒体复合物 I 和 III 的活性降低。该患者在9个月大时死亡。
