Chronic Respiratory Failure in a Case with Juvenile-Onset Acid a-Glucosidase Deficiency; Successful Therapy with Nasal Intermittent Positive Pressure Ventilation (NIPPV)

Abstract

A 13-year-old boy with juvenile-onset acid a glucosidase deficiency was reported. Proximal muscle weakness including respiratory muscles and scoliosis progressed since nine year of age. He developed nocturnal dyspnea and daytime somnolence at age 13. His arterial blood gas analysis showed hypoxemia (PO, 54.1 mmHg) and hypercapnia (PCO₂ 72.3mmHg), and spirometry showed significantly decreased vital capacity (%VC 21%). He was treated with nocturnal NIPPV employing a device for delivering bilevel positive airway pressure (Bi-PAP). Nocturnal dyspnea and daytime somnolence rapidly disappeared with nocturnal ventilatory support. Daytime arterial P0₂ and PCO₂ improved after the therapy, namely 74.8 mmHg and 64.1 mmHg respectively. We conclude that NIPPV is a noninvasive and effective therapy for respiratory failure in patients with chronic progressive neuromuscular disorder including acid a glucosidase deficiency.