Weng T R, Schultz G E, Chang C H, Nigro M A
Chest. 1985 Oct;88(4):488-95. doi: 10.1378/chest.88.4.488.
We studied the pulmonary function and ventilatory response to carbon dioxide and hypoxia in three sisters aged 16, 13, and 10 years who presented with droopy eyelids, external ophthalmoplegia, hearing loss, speech difficulty, and truncal muscular weakness. Pulmonary function test results showed decreased maximum static pressure, reduced vital capacity and total lung capacity, normal functional residual capacity, elevated residual volume, and reduced dynamic pulmonary volumes. The degree of functional abnormality paralleled the severity of clinical manifestations. The characteristic picture of pulmonary functional abnormality was distinct from either restrictive disorders of pulmonary origin or obstructive pulmonary diseases. The ventilatory response to hypoxia was markedly diminished and hypercapnic response was moderately diminished in all three patients.
我们研究了三名年龄分别为16岁、13岁和10岁的姐妹的肺功能以及对二氧化碳和低氧的通气反应，她们均表现为眼睑下垂、眼球外肌麻痹、听力丧失、言语困难和躯干肌无力。肺功能测试结果显示最大静态压力降低、肺活量和肺总量减少、功能残气量正常、残气量增加以及动态肺容积减少。功能异常的程度与临床表现的严重程度平行。肺功能异常的特征性表现既不同于肺源性限制性疾病，也不同于阻塞性肺疾病。所有三名患者对低氧的通气反应均明显减弱，对高碳酸血症的反应中度减弱。
