Lin S J, Wang P J, Lin M Y, Shen Y Z
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 May-Jun;34(3):216-22.
A case of rigid spine syndrome presenting with respiratory failure was reported. A seven-year-old girl had had dyspnea and orthopnea for one month. Symptoms had aggravated gradually and she was in a state of respiratory failure on arrival at our hospital. There was no evidence of active lung lesions and response to mechanical ventilation was good. Physical examination revealed an extremely thin girl with marked flexion limitation of neck and severe wasting of sternocleidomastoid and intercostal muscles. Serum creatine phosphokinase was moderately elevated (801 IU/L). Muscle biopsy specimen obtained from the right quadriceps femoris revealed increased perimyseal connective tissue and marked Type II fiber atrophy. Electromyography of left paraspinal muscles demonstrated small amplitude, short duration motor unit potentials. She received tracheostomy and a home-care ventilator use during sleep. Ventilatory insufficiency, though rare, should be anticipated in patients with rigid spine syndrome, and timely ventilatory support should be given.
报告了一例以呼吸衰竭为表现的僵硬脊柱综合征病例。一名七岁女孩出现呼吸困难和端坐呼吸一个月。症状逐渐加重，入院时处于呼吸衰竭状态。无活动性肺部病变证据，对机械通气反应良好。体格检查发现该女孩极度消瘦，颈部明显屈曲受限，胸锁乳突肌和肋间肌严重萎缩。血清肌酸磷酸激酶中度升高（801 IU/L）。从右股四头肌获取的肌肉活检标本显示肌周结缔组织增多，II型纤维明显萎缩。左侧椎旁肌肌电图显示运动单位电位波幅小、时限短。她接受了气管切开术，并在睡眠期间使用家庭护理呼吸机。僵硬脊柱综合征患者虽罕见出现通气不足，但应予以预期，并及时给予通气支持。
