Macroglossia could be a potentially severe complication of late-onset Pompe disease (LOPD), according to a new study published in the European Journal of Neurology. It therefore should be part of the clinical diagnosis and follow-up of patients with a careful evaluation of its main consequences including impairment of speech, swallowing, and sleep.

The “bright tongue sign,” which is tongue hyperintensity on T1-weighted image in brain magnetic resonance imaging, could facilitate the early diagnosis of Pompe disease, the authors said.

The researchers led by Pascal Laforêt, MD, PhD, from Raymond-Poincaré University Hospital in Garches, France collected clinical, functional, and radiological data from 5 patients with LOPD and macroglossia included in the French national Pompe disease registry during follow-up. They then retrospectively analyzed the data and compared it with 15 previously reported cases.

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Four of the patients had symptoms related to macroglossia before they were diagnosed with Pompe disease. Three of those had localized tongue atrophy while 1 patient had significant localized tongue hypertrophy 10 years before the diagnosis of Pompe disease. Four patients had a tongue hyper signal on T1-weighted images.

Two of the patients had severe dysphagia and 1 of them had to undergo gastrostomy for nutritional support. One patient had bilevel positive airway pressure ventilation during the night to treat their sleep apnea but continued to experience apnea. All patients had dysarthria and 2 of them needed speech therapy.

“Macroglossia is probably an under-evaluated symptom of LOPD needing an increased awareness of physicians to systematically examine tongue and swallowing in patients with LOPD, especially elderly,” the researchers concluded.

“We aim to improve the collection of these data in the French Pompe registry in the coming years, in order to answer to the questions regarding the frequency, the severity, and the possible correlation with the disease duration.”


Dupé C, Lefeuvre C, Solé G, et al. Macroglossia: a potentially severe complication of late-onset Pompe disease. Eur J Neurol. Published online March 18, 2022. doi:10.1111/ene.15330