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- W2955300876 abstract "Late-onset Pompe disease (LOPD) is an often misdiagnosed inherited myopathy for which treatment exists. We noticed a bright tongue sign on brain MRIs of two patients who were admitted to the ICU for respiratory failure of unclear origin, and who were eventually diagnosed with LOPD. This led us to systematically review brain MRIs of patients with LOPD and various other neuromuscular disorders (NMD). Chart and brain MRI review of patients with LOPD and other NMD. Abnormalities of the tongue were observed in 11/33 of the patients studied. In 10/11 patients, no comments were made with regard to the tongue abnormalities in the radiology report. Bright tongue sign was seen in 4/6 patients with LOPD and 4/28 patients with other NMD. Tongue atrophy was seen in 3/6 patients with LOPD and 6/28 patients with other NMD. Tongue abnormalities on brain MRI are common in LOPD compared to other NMD. These abnormalities are not usually reported by the radiologist. Particular attention to the tongue when reviewing brain MRIs may be an important clue for diagnosis of a patient’s muscle weakness. A larger study is suggested to evaluate the sensitivity and specificity of tongue abnormalities in patients with LOPD." @default.
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- W2955300876 date "2019-06-29" @default.
- W2955300876 modified "2023-10-09" @default.
- W2955300876 title "Bright tongue sign in patients with late-onset Pompe disease" @default.
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- W2955300876 doi "https://doi.org/10.1007/s00415-019-09455-1" @default.
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