Diagnostic Yield of Chilaiditi’s Sign in Advanced-Phase Late-Onset Pompe Disease

Purpose: Chilaiditi’s sign (CS), hepatodiaphragmatic interposition of the intestine, was caused by morphological abnormalities such as diaphragmatic atrophy, intestinal dilation, and liver atrophy. The sign is potentially important due to associations with clinically recurrent abdominal pain or even colonic volvulus. In general, neuromuscular disease (NMD) could have the high prevalence of CS because of widened hepatodiaphragmatic space, following diaphragmatic atrophy. Particularly, in late-onset Pompe disease (LOPD), glycogen accumulation in smooth muscle of intestine could lead to the abnormal dilation of intestine. Though the prevalence of CS in LOPD could be high because of developing two main factors of CS, no studies have evaluated the prevalence of CS in LOPD. Our aim was to investigate the prevalence of CS in LOPD, and to identify the risk factors of CS in LOPD patients. Methods: Medical records of genetically confirmed patients of Pompe disease at the National Center Hospital, National Center of Neurology and Psychiatry were retrospectively reviewed. We evaluated CS using chest X-ray (CXR) and abdominal CT and assessed the prevalence of CS in LOPD patients. We also divided the patients into two groups, CS and non-CS group, and evaluated the factor associated with CS compared to clinical variables between groups. Results: Three of seven (43%) were detected in CS. CS group (P5-7) and non-CS group (P1-4) were obtained. In comparison of clinical variables, the severity of atrophy in right diaphragms was significantly higher in CS than non-CS groups (p =0.029). Also, the frequency of abnormal position of right diaphragm and liver, and abnormally dilated bowel was seen in all of CS patients, but none of non-CS patient (p = 0.029, each). Conclusion: In LOPD patients, the prevalence of CS was much higher of 43%, compared to healthy groups, or even in similarly respiratory muscle impaired neuromuscular diseases such as Duchenne muscular dystrophy (DMD) or Myotonic dystrophy type 1 (DM1). The anatomically abnormal position of diaphragm and liver, atrophy and fat infiltration of diaphragms, and abnormally dilated bowel were significantly associated with CS in LOPD. Since CS can cause intestinal symptoms or even contribute to sudden-death of intestinal volvulus, we should pay more attention to CXR or abdominal CT as follow up in LOPD patients.

Chilaiditi’s Syndrome—What Every Endoscopist Should Know

Chilaiditi’s syndrome is a rare and often asymptomatic anomaly, typically found as an incidental radiographic sign (gas under the diaphragm) due to hepato-diaphragmatic interposition of the transverse colon. We report a case of Chilaiditi’s syndrome following colonoscopy presenting with severe abdominal pain, dyspnoea and radiograph findings similar to the presence of bowel perforation (appearance of gas under the hemidiaphragm on erect chest radiograph). Computed tomography (CT) evidence of Chilaiditi’s sign prevented unnecessary laparotomy.