Late onset of Pompe's disease: a rare cause of respiratory failure

Abstract

A woman in her 30s was admitted acutely to the emergency department with severe respiratory failure of unknown cause. On arrival, the patient was severely compromised with a reduced Glasgow Coma scale and arterial pCO2 > 14 kPa. She was intubated and taken to the intensive care unit for respiratory support and further investigations.A detailed patient history revealed multiple admissions in the psychiatric sector with anxiety disorder, as well as numerous admissions to the emergency department with progressive tremors, muscle fatigue and dyspnoea, all of which were interpreted as anxiety attacks. Based on this history, we suspected a neurological disorder in our patient. Following extensive neurological investigation and additional genetic studies, the diagnosis of late-onset Pompe's disease was confirmed.Late-onset Pompe's disease can pose a diagnostic challenge due to its multifaceted presentation with non-specific symptoms. Any patient not responding to treatment should urge clinicians to re-evaluate their differential diagnoses.

Keywords: Intensive care; Muscle disease; Neuromuscular disease.