Matthews P M, Nagy Z, Brown G K, Land J, Squier M V
Department of Biochemistry, University of Oxford, England.
Clin Neuropathol. 1994 May-Jun;13(3):139-41.
An infant with hypotonia and recurrent apneic spells died with a diagnosis of pyruvate dehydrogenase deficiency and showed typical pathological changes of Leigh's syndrome at postmortem. Despite the prominence of symptoms suggesting dysfunction of brainstem respiratory centers during life, lesions were not found in the upper medulla. However, quantitative morphometric analysis demonstrated abnormal capillary hyperplasia in the region including and between the nucleus ambiguus and nucleus tractus solitarius. There was an average area of 8.0 +/- 2.5 x 10(6) mm2 occupied by capillaries per 0.75 mm2 field in the patient's brainstem, compared with 4.6 +/- 1.6 x 10(6) mm2 and 5.5 +/- 1.4 x 10(6) mm2 in two age-matched controls (p < 0.01). We speculate that capillary hyperplasia is a pathological marker of chronically impaired oxidative metabolism in the central nervous system in metabolic disease.
一名患有肌张力减退和反复呼吸暂停发作的婴儿死亡，死后诊断为丙酮酸脱氢酶缺乏症，并显示出 Leigh 综合征的典型病理变化。尽管生前有提示脑干呼吸中枢功能障碍的突出症状，但在延髓上部未发现病变。然而，定量形态计量分析显示，在包括疑核和孤束核及其之间的区域存在异常的毛细血管增生。患者脑干中每 0.75 mm² 视野内毛细血管占据的平均面积为 8.0±2.5×10⁶ mm²，而两名年龄匹配的对照者分别为 4.6±1.6×10⁶ mm² 和 5.5±1.4×10⁶ mm²（p<0.01）。我们推测，毛细血管增生是代谢性疾病中枢神经系统慢性氧化代谢受损的病理标志。
