Efthimiou J, McLelland J, Round J, Gribbin H R, Loh L, Spiro S G
University College Hospital, London, United Kingdom.
Am Rev Respir Dis. 1987 Dec;136(6):1483-5. doi: 10.1164/ajrccm/136.6.1483.
A syndrome consisting of a rigid spine and myopathy predominantly affecting proximal limb muscles has been previously described in children, and as with most neuromuscular disorders, the respiratory muscles appear to be affected only at an advanced stage in the disease. We describe an adult male with this syndrome who presented with ventilatory failure caused by severe respiratory muscle weakness and who demonstrated profound nocturnal arterial oxygen desaturation, particularly during rapid eye movement sleep. Treatment with negative pressure ventilation initially resulted in only modest improvements in symptoms, blood gas tensions, and nocturnal desaturation. The cause of this only partial improvement was upper airway obstruction provoked by the mode of ventilatory support used. After tracheostomy there was a dramatic and sustained improvement in symptoms and blood gas tensions and complete abolition of nocturnal arterial oxygen desaturation. This is the first report of an adult with the rigid spine syndrome presenting with ventilatory failure and cor pulmonale due to severe respiratory muscle weakness.
先前已在儿童中描述过一种综合征，其特征为脊柱僵硬和主要影响近端肢体肌肉的肌病，与大多数神经肌肉疾病一样，呼吸肌似乎仅在疾病晚期才会受到影响。我们描述了一名患有这种综合征的成年男性，他因严重呼吸肌无力导致通气衰竭，并表现出严重的夜间动脉血氧饱和度下降，尤其是在快速眼动睡眠期间。负压通气治疗最初仅使症状、血气张力和夜间饱和度有适度改善。这种仅部分改善的原因是所用通气支持方式引发的上气道梗阻。气管切开术后，症状和血气张力有显著且持续的改善，夜间动脉血氧饱和度完全消除。这是首例因严重呼吸肌无力导致通气衰竭和肺心病的成年僵硬脊柱综合征患者的报告。
