Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation

Abstract

We report on a 57 year old female patient who presented in acute respiratory failure with severe generalized weakness. She was previously misdiagnosed for over three decades as polymyositis. She was treated with enzyme replacement therapy (ERT) for over five years, after being diagnosed with late onset Pompe Disease (LOPD). She returned to independent living with the use of non invasive ventilation at nights. ERT should be considered in the management of patients with advanced LOPD and the effects of ERT closely monitored.

Keywords

• Late onset Pompe disease
• Misdiagnosis
• Enzyme replacement therapy
• Alglucosidase alfa