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Bright tongue sign in patients with late-onset Pompe disease.

Abstract：

BACKGROUND: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). MATERIALS AND METHODS:Chart and brain MRI review of patients with LOPD and other NMD. RESULTS: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. CONCLUSION: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.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Karam C,Dimitrova D,Yutan E,Chahin N

doi

10.1007/s00415-019-09455-1

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

2518-2523

issue

10

eissn

0340-5354

issn

1432-1459

pii

10.1007/s00415-019-09455-1

journal_volume

266

pub_type

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