Gastroesophageal Reflux Associated With Nemaline Myopathy of Infancy

[摘要] 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.

[学科分类] 儿科学