Successful Weaning from Invasive Ventilation in Late-onset Pompe's Disease-A Case Report

Abstract

Pompe's disease is an autosomal recessive inheritable disorder involving a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The incidence is 1 in 40,000 births. It predominately affects the heart, skeletal, and respiratory muscles. The clinical spectrum ranges from a rapidly progressive infantile form leading to death within the first year of life to a slowly progressive late-onset form of the disease that affects mobility and respiratory function. Both types are generally characterized by progressive muscle weakness and breathing difficulty, but the severity of the disease can vary widely depending on the age of onset and the extent of organ involvement. Patients with the late-onset form who become symptomatic in childhood are more severely affected and typically die by the second or third decade of life. As the disease progresses, patients lose mobility, or become wheelchair bound or bedridden. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality. We present the case of a 31-year-old woman who was diagnosed with late-onset Pompe's disease 5 years previously, and who developed pneumonia with acute respiratory failure. She was successfully weaned from the ventilator after intensive respiratory muscle training.