Bertorini T, Engel W K, Di Chiro G, Dalakas M
Arch Neurol. 1978 Oct;35(10):643-7. doi: 10.1001/archneur.1978.00500340019004.
In a group of 13 patients affected by oculocraniosomatic neuromuscular disease with mitochondrial abnormalities and ragged-red fibers, a major, diffuse leukoencephalopathic process was recognized by computerized tomography (CT) in three cases. Clinically, these three patients were the most severely affected. The areas involved by the leukoencephalopathic process did not show enhancement after contrast medium injection. In several of the remaining ten cases, various forms and grades of CSF cavity dilation were encountered. Four of the 13 patients had very high CSF protein levels, three had CT-demonstrated leukoencephalopathy, and the fourth had substantial sulcal dilation. The CT findings in this group of patients corresponded well to the previously reported histopathological observations and indicated the clinical usefulness of CT in identifying brain involvement in this syndrome.
在一组13例患有伴有线粒体异常和破碎红纤维的眼颅体神经肌肉疾病的患者中，通过计算机断层扫描（CT）在3例患者中识别出主要的弥漫性白质脑病过程。临床上，这3例患者受影响最严重。白质脑病过程累及的区域在注射造影剂后未显示增强。在其余10例中的几例中，发现了各种形式和程度的脑脊液腔扩张。13例患者中有4例脑脊液蛋白水平非常高，3例有CT显示的白质脑病，第4例有明显的脑沟扩张。这组患者的CT表现与先前报道的组织病理学观察结果非常吻合，表明CT在识别该综合征中的脑部受累情况方面具有临床实用性。
