In infantile Pompe's disease, enzyme replacement therapy (ERT) has been shown to reverse cardiomyopathy, improve skeletal muscle strength, and prolong survival. We report on five patients in whom complications related to gastroesophageal reflux (GER) resulted in deterioration of their clinical status despite initial improvement under ERT. Surgical antireflux therapy, performed in four, yielded positive results in two. Three patients experienced severe aspirations related to GER and underwent fundoplication and gastrostomy subsequently. 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 probably due to cardiac arrest 20 months later. These cases suggest that infants with Pompe's disease under ERT may benefit from timely performed fundoplication and gastric tube placement.
Copyright Georg Thieme Verlag KG Stuttgart New York.