{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T15:01:54Z","timestamp":1776092514110,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid \u03b1\u2010glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late\u2010onset Pompe disease (LOPD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe patients with LOPD and macroglossia included in the French national Pompe disease registry. Clinical, functional, and radiological data were collected during periodic follow\u2010up and analyzed retrospectively. These cases were compared with 15 previously reported cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five patients, three females and two\u00a0males, aged 71\u201388\u00a0years, were included in this study. All but one of the patients suffered from symptoms related to macroglossia before the diagnosis of Pompe disease. Three had localized tongue atrophy and one had significant localized tongue hypertrophy which led to glossectomy 10\u00a0years before diagnosis. Two patients had severe dysphagia, one of whom underwent gastrostomy for enteral nutritional support. One patient experienced the persistence of numerous sleep apneas despite nocturnal bilevel positive airway pressure (BiPAP) ventilation. All our patients had dysarthria, and two required speech therapy. Four patients had a tongue hypersignal on magnetic resonance imaging (MRI) T1\u00a0sequences.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Detection of macroglossia should be part of the clinical diagnosis and follow\u2010up of patients with LOPD, with a careful evaluation of its main consequences. Macroglossia can have severe functional impacts on speech, swallowing, and sleep. Whole\u2010body MRI with facial sections may facilitate the early diagnosis of Pompe disease with the \u201cbright tongue sign\u201d.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15330","type":"journal-article","created":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T13:24:33Z","timestamp":1647609873000},"page":"2121-2128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Macroglossia: A potentially severe complication of late\u2010onset Pompe disease"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5705-3539","authenticated-orcid":false,"given":"Charlotte","family":"Dup\u00e9","sequence":"first","affiliation":[{"name":"Neurology Department APHP Raymond Poincar\u00e9 University Hospital  Garches France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Lefeuvre","sequence":"additional","affiliation":[{"name":"Neurology Department APHP Raymond 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