Berezin S, Newman L J, Schwarz S M, Spiro A J
Department of Pediatrics, New York Medical College, Valhalla 10595.
Pediatrics. 1988 Jan;81(1):111-5.
A severe infantile form of nemaline myopathy has a high mortality rate when untreated because of subsequent malnutrition and respiratory failure. Three infants with this condition demonstrated persistent vomiting, poor weight gain, and recurrent pneumonias. Esophageal manometry demonstrated decreased lower esophageal sphincter pressures and low amplitude peristalsis; 24-hour esophageal pH monitoring revealed significant gastroesophageal reflux. Medical therapy was ineffective in relieving symptoms. After antireflux surgery, vomiting and respiratory symptoms ceased, and there was no longer significant gastroesophageal reflux during pH monitoring. Our experience indicates that in some infants with nemaline myopathy a severe form of gastroesophageal reflux develops that is not responsive to medical therapy. Early surgical intervention may decrease life-threatening complications associated with gastroesophageal reflux in these infants.
严重的婴儿型杆状体肌病若不治疗，由于随后出现的营养不良和呼吸衰竭，死亡率很高。三名患有这种疾病的婴儿表现出持续呕吐、体重增加不佳和反复肺炎。食管测压显示食管下括约肌压力降低和蠕动幅度低；24小时食管pH监测显示有明显的胃食管反流。药物治疗在缓解症状方面无效。抗反流手术后，呕吐和呼吸道症状消失，pH监测期间不再有明显的胃食管反流。我们的经验表明，在一些患有杆状体肌病的婴儿中，会出现一种对药物治疗无反应的严重胃食管反流形式。早期手术干预可能会减少这些婴儿中与胃食管反流相关的危及生命的并发症。
