Abstract | BACKGROUND: CASE PRESENTATION: This 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. DISCUSSION: The 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.
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Authors | Francesco Menzella, Luca Codeluppi, Mirco Lusuardi, Carla Galeone, Franco Valzania, Nicola Facciolongo |
Journal | Multidisciplinary respiratory medicine
(Multidiscip Respir Med)
Vol. 13
Pg. 32
( 2018)
ISSN: 1828-695X [Print] Italy |
PMID | 30186604
(Publication Type: Case Reports)
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