Treatment of gastroesophageal reflux with Nissen fundoplication and gastrostomy tube insertion in infantile Pompe's disease

Infantile Pompe's disease is a rapidly progressive lysosomal storage disorder usually leading to death within the first year of life. Enzyme replacement therapy (ERT) has been shown to reverse cardiomyopathy, improve skeletal muscle strength, and prolong survival, but patients remain at an increased risk of aspirations due to swallowing difficulties and gastro-esophageal reflux (GER). We report five patients in whom complications related to GER resulted in deterioration of their clinical status despite initial improvement under ERT. One patient experienced several aspirations from 5–8 months of age. He was treated with gastrostomy tube insertion, but this did not prevent further aspirations and he died at 10 months of age. Surgical anti-reflux therapy was performed in the remaining four subjects and yielded positive results in two. Three of these patients underwent fundoplication and gastrostomy after severe aspirations had caused profound deterioration of the clinical status. Two did not regain former motor functions and deceased shortly thereafter, while one slowly recuperated and is in a stable state at age 53 months. In a further patient, severe GER prompted fundoplication at age 17 months. No aspirations occurred until the girl deceased 20 months later probably due to cardiac arrest. These observations demonstrate the peril of aspiration related to GER in infantile Pompe's disease and suggest that subjects receiving ERT may benefit from timely performed fundoplication and gastric tube placement.