Castro-Gago M, Pintos-Martínez E, Beiras-Iglesias A, Maroto S, Campos Y, Arenas J, Eirís-Puñal J
Departamento de Pediatría, Clínico-Universitario, Santiago de Compostela, Spain.
J Child Neurol. 1996 Mar;11(2):108-11. doi: 10.1177/088307389601100209.
We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.
我们报告了两名6个月大女孩的病历，她们的父母均年轻且无血缘关系，因疑似失明前来就诊。在这两个病例中，均诊断为莱伯先天性黑矇。由于血液中乳酸水平持续偏高，遂进行了肌肉活检。活检分析显示，两名患者的线粒体呼吸链复合体IV水平均较低；其中一名患者的复合体III水平也较低。仅在第二名患者中观察到了线粒体疾病中常见的肌肉微观和超微结构改变。这些观察结果提示，至少部分莱伯先天性黑矇病例可能是由线粒体呼吸链改变所致。
