Salik Irim, Kubal Keshar, Barst Samuel
From the Department of Pediatric Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, New York.
A A Pract. 2019 Apr 15;12(8):267-269. doi: 10.1213/XAA.0000000000000906.
Kniest dysplasia, or metatropic dysplasia type II, is a rare chondrodysplasia caused by abnormal type II collagen. Clinically, it is characterized by dwarfism, deafness, skeletal derangements, and ocular abnormalities. Mitochondrial diseases produce a spectrum of abnormalities in affected individuals and predominantly impact organs of high energy utilization, including the brain, skeletal muscles, kidneys, and liver. We present the case of a 6-year-old boy with both Kniest dysplasia and underlying mitochondrial disease for examination under anesthesia before cataract surgery. Successful anesthetic management of a patient with Kniest dysplasia and a mitochondrial myopathy is discussed.
克尼斯发育不良，或II型变异性发育不良，是一种由II型胶原蛋白异常引起的罕见软骨发育不良。临床上，其特征为侏儒症、耳聋、骨骼紊乱和眼部异常。线粒体疾病在受影响个体中产生一系列异常，主要影响高能量利用的器官，包括大脑、骨骼肌、肾脏和肝脏。我们报告一例6岁男孩，患有克尼斯发育不良和潜在的线粒体疾病，在白内障手术前接受麻醉检查。本文讨论了对一名患有克尼斯发育不良和线粒体肌病患者的成功麻醉管理。
