{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:40:16Z","timestamp":1756287616605,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,23]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>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 &gt; 14 kPa. She was intubated and taken to the intensive care unit for respiratory support and further investigations.<\/jats:p>\n               <jats:p>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\u2019s disease was confirmed.<\/jats:p>\n               <jats:p>Late-onset Pompe\u2019s 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.<\/jats:p>","DOI":"10.1136\/bcr-2024-263005","type":"journal-article","created":{"date-parts":[[2024,12,22]],"date-time":"2024-12-22T09:25:35Z","timestamp":1734859535000},"page":"e263005","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Late onset of Pompe\u2019s disease: a rare cause of respiratory failure"],"prefix":"10.1136","volume":"17","author":[{"given":"Charlotte Loumann","family":"Krogh","sequence":"first","affiliation":[{"name":"Department of Anaesthesiology, N\u00e6stved Slagelse and Ringsted Hospitals, Slagelse, Denmark"},{"name":"Department of Paediatric and Obstetric Anaesthesia, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne \u00d8berg","family":"Lauritsen","sequence":"additional","affiliation":[{"name":"Department of Anaesthesiology, N\u00e6stved Slagelse and Ringsted Hospitals, Slagelse, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8008-6614","authenticated-orcid":false,"given":"Daniel","family":"H\u00e4gi-Pedersen","sequence":"additional","affiliation":[{"name":"Department of Anaesthesiology, N\u00e6stved Slagelse and Ringsted Hospitals, Slagelse, Denmark"},{"name":"Department of Clnical Medicine, University of Copenhagen, Copenhagen, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,12,22]]},"reference":[{"key":"2025082702013027000_17.12.e263005.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61555-X"},{"key":"2025082702013027000_17.12.e263005.2","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-0655-y"},{"key":"2025082702013027000_17.12.e263005.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0447.2008.01211.x"},{"key":"2025082702013027000_17.12.e263005.4","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0111682","article-title":"Diagnostic overshadowing and other challenges involved in the diagnostic process of patients with mental illness who present in emergency departments with physical symptoms--a qualitative study","volume":"9","author":"Shefer","year":"2014","journal-title":"PLoS One"},{"key":"2025082702013027000_17.12.e263005.5","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21025"},{"key":"2025082702013027000_17.12.e263005.6","unstructured":"Myozyme. 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