A new study has found a much higher prevalence of Chilaiditi’s sign (CS) in patients with late-onset Pompe disease (LOPD) than in healthy individuals. The study, published in the Journal of Neuromuscular Diseases, found CS to be more prevalent even compared with other respiratory muscle neuromuscular diseases.

CS is an unusual and potentially life-threatening condition in which the intestine is interposed between the liver and right diaphragm; it is often misdiagnosed as pneumoperitoneum.

“Our aim was to investigate the prevalence of CS in LOPD, and to identify the risk factors for CS in LOPD patients,” the authors wrote.

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The research team retrospectively reviewed the medical records of patients with genetically confirmed Pompe disease at a single center in Japan. The team identified CS based on chest x-ray and abdominal computed tomography (CT). They divided the patients into CS and non-CS groups and compared the clinical variables between the groups.

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The results showed that 43% of the patients with LOPD had CS and that the positions of the diaphragm and liver were abnormal in these patients. In addition, atrophy and fat infiltration of the diaphragm, as well as abnormally dilated bowels, were associated with CS in the patients with LOPD.

The authors speculate that the high prevalence of CS in this group could be due to the enlarged hepatodiaphragmatic space due to atrophy of the diaphragm and that glycogen accumulation in the intestine could lead to the abnormal dilation of the intestines.

The team recommends greater consideration of chest x-ray and/or abdominal CT when following up on patients with LOPD.


Takahashi J, Mori-Yoshimura M, Ariga H, et al. Diagnostic yield of Chilaiditi’s sign in advanced-phase late-onset Pompe disease. J Neuromuscul Dis. Published online August 12, 2022. doi: 10.3233/JND-220792