Abstract

BackgroundAcute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin. Pompe disease, or type II glycogen storage disease, is a serious and often fatal disorder, due to a pathological accumulation of glycogen caused by a defective activiy of acid α-glucosidase (acid maltase), a lysosomal enzyme involved in glycogen degradation. The prevalence of the disease is estimated between 1 in 40,000 to 1 in 300,000 subjects.Case presentationThis case report describes a difficult diagnosis of late-onset Pompe disease (LOPD) in a 52 year old Caucasian woman with acute respiratory failure requiring orotracheal intubation and subsequent tracheostomy for long-term mechanical ventilation 24 h/day. Despite a complex diagnostic process including several blood tests, bronchoscopy with BAL, chest CT, brain NMR, electromyographies, only a muscle biopsy allowed to reach the correct diagnosis.DiscussionThe most frequent presentation of myopathies, including LOPD, is proximal limb muscle weakness. Respiratory related symptoms (dyspnea on effort, reduced physical capacity, recurrent infections, etc.) and respiratory failure are often evident in the later stages of the diseases, but they have been rarely described as the onset symptoms in LOPD. In our case, a third stage LOPD, the cooperation between pulmonologists and neurologists was crucial in reaching a correct diagnosis despite a very complex clinical scenario due to different confounding co-morbidities as potential causes of respiratory failure and an atypical presentation. In this patient, enzyme replacement therapy with infusion of alglucosidase alfa was associated with progressive reduction of ventilatory support to night hours, and recovery of autonomous walking.

Highlights

  • Acute respiratory failure can be triggered by several causes, either of pulmonary or extra-pulmonary origin

  • Respiratory related symptoms and respiratory failure are often evident in the later stages of the diseases, but they have been rarely described as the onset symptoms in late-onset Pompe disease (LOPD)

  • A third stage LOPD, the cooperation between pulmonologists and neurologists was crucial in reaching a correct diagnosis despite a very complex clinical scenario due to different confounding co-morbidities as potential causes of respiratory failure and an atypical presentation

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Summary

Discussion

The most frequent presentation of myopathies, including LOPD, is proximal limb muscle weakness. Compared to Gaucher and Fabry disorders the experience in Pompe disease is poor, but currently available data indicate that several PD patients on ERT develop anti-rhGAA [14, 15]. It is unknown whether sustained antibody titers occur in adults with PD, and whether high titers can modify the response to treatment. Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, et al Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. Van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, et al Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: the EMBASSY study.

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