Sasaki M, Takeda M, Kobayashi K, Nonaka I
Division of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Tokyo, Japan.
Pediatr Neurol. 1997 May;16(4):344-6. doi: 10.1016/s0887-8994(97)00032-5.
Four patients with nemaline myopathy, 1 with the severe infantile form and 3 with the benign congenital (classical) form, exhibited significant respiratory problems. In the patient with the severe infantile form, respiratory failure paralleled the generalized muscle weakness, whereas the 3 patients with the benign infantile form suddenly developed respiratory failure while still ambulant. Polysomnographic studies performed on 2 patients revealed that apnea or irregular thoracic movements occurred only during rapid eye movement sleep, when hypercapnia was also demonstrated on serial transcutaneous partial O2 and partial CO2 monitoring. A discrepancy between motor ability and respiratory involvement probably is not uncommon in patients with the moderate congenital form of nemaline myopathy. Clinicians must always be alert to respiratory failure when monitoring patients with nemaline myopathy.
4例杆状体肌病患者，1例为严重婴儿型，3例为良性先天性（经典型），均出现明显的呼吸问题。严重婴儿型患者的呼吸衰竭与全身肌肉无力平行，而3例良性婴儿型患者在仍能行走时突然发生呼吸衰竭。对2例患者进行的多导睡眠图研究显示，呼吸暂停或不规则的胸廓运动仅在快速眼动睡眠期间出现，此时连续经皮部分氧和部分二氧化碳监测也显示有高碳酸血症。在中度先天性杆状体肌病患者中，运动能力与呼吸受累之间的差异可能并不罕见。临床医生在监测杆状体肌病患者时必须始终警惕呼吸衰竭。
