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

Mandat Maharaj; David L Skidmore; Sidney E Croul; David J Brake; Hanns Lochmuller

doi:10.1016/j.ymgmr.2022.100896

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

Mol Genet Metab Rep. 2022 Jul 18;32:100896. doi: 10.1016/j.ymgmr.2022.100896. eCollection 2022 Sep.

Authors

Mandat Maharaj¹, David L Skidmore², Sidney E Croul³, David J Brake¹, Hanns Lochmuller⁴

Affiliations

¹ Cape Breton Regional Hospital, Cape Breton, Nova Scotia, Dalhousie University, Canada.
² IWK Hospital, Halifax, Nova Scotia, Dalhousie University, Canada.
³ Queen Elizabeth Hospital, Halifax, Nova Scotia, Dalhousie University, Canada.
⁴ The Ottawa Hospital, Ottawa, Ontario, The University of Ottawa, Canada.

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: Alglucosidase alfa; Enzyme replacement therapy; Late onset Pompe disease; Misdiagnosis.

Publication types

Case Reports