The prevalence of Chilaiditi’s sign is much higher among patients with late-onset Pompe disease (LOPD) than in healthy controls, according to a new study.

Chilaiditi’s sign in LOPD is associated with anatomically abnormal positions of the liver and diaphragm, atrophy and fat infiltration of diaphragms, and abnormally dilated bowels.

“Since [Chilaiditi’s sign] can cause intestinal symptoms or even contribute to sudden-death of intestinal volvulus, we should pay more attention to [chest x-ray] or abdominal computed tomography as follow up in LOPD patients,” the authors wrote.

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A team of researchers was led by Yuji Takahashi, PhD, and they retrospectively reviewed the medical records of 7 patients with Pompe disease whose diagnosis was confirmed by genetic testing. Chilaiditi’s sign was evaluated using chest x-ray and abdominal computed tomography. This was completed to investigate the prevalence of Chilaiditi’s sign in patients with LOPD and identify any factors that could increase the risk of it in these patients.

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The results showed that 3 of the 7 patients (48%) had Chilaiditi’s sign. When the researchers compared the clinical variables of the patients with and without Chilaiditi’s sign, they found that right diaphragm atrophy was significantly more severe in patients with it compared to the others.

Moreover, abnormal position of the right diaphragm, liver under the left diaphragm, and abnormally dilated bowel were seen in all patients with Chilaiditi’s sign but in none of the patients without Chilaiditi’s sign.

Chilaiditi’s sign is a radiographic finding where the bowel is positioned between the right diaphragm and the liver. In LOPD, the accumulation of glycogen in the intestinal smooth muscles due to lysosomal acid alpha-glucosidase deficiency could lead to the abnormal dilation of the intestine, which leads to Chilaiditi’s sign.

This is the first study that looked into the prevalence of Chilaiditi’s sign in LOPD patients. It is important to note that the number of patients in this study was quite small and the results could be different if a larger number of patients were evaluated.

The study is in preprint and is under consideration to be published in the Orphanet Journal of Rare Diseases.


Takahashi J, Mori-Yoshimura M, Ariga H, Sato N, Nishino I, Takahashi Y. Diagnostic yield of Chilaiditi’s sign in advanced-phase late-onset Pompe disease. Research Square. Preprint posted online October 12, 2021. doi:10.21203/