Takahashi Junichiro, Mori-Yoshimura Madoka, Ariga Hajime, Sato Noriko, Nishino Ichizo, Takahashi Yuji
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Department of Gastroenterology and Hepatology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
J Neuromuscul Dis. 2022;9(5):619-627. doi: 10.3233/JND-220792.
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. Late-onset Pompe disease (LOPD) could have the high prevalence of CS because of widened hepatodiaphragmatic space, following diaphragmatic atrophy, and the abnormal dilation of intestine caused by glycogen accumulation in smooth muscle of intestine. Our aim was to investigate the prevalence of CS in LOPD, and to identify the risk factors of CS in LOPD patients.
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.
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).
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. 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. We should pay more attention to CXR or abdominal CT as follow up in LOPD patients.
Chilaiditi征（CS），即肠肝膈间位，是由膈肌萎缩、肠扩张和肝萎缩等形态学异常引起的。该体征因与临床复发性腹痛甚至结肠扭转相关而具有潜在重要性。晚发型庞贝病（LOPD）由于肝膈间隙增宽、膈肌萎缩以及肠道平滑肌糖原积累导致的肠道异常扩张，可能具有较高的CS患病率。我们的目的是调查LOPD中CS的患病率，并确定LOPD患者中CS的危险因素。
回顾性分析国立神经精神医学中心医院经基因确诊的庞贝病患者的病历。我们使用胸部X线（CXR）和腹部CT评估CS，并评估LOPD患者中CS的患病率。我们还将患者分为两组，CS组和非CS组，并比较两组之间与CS相关的因素和临床变量。
7例中有3例（43%）检测到CS。获得了CS组（P5 - 7）和非CS组（P1 - 4）。在临床变量比较中，CS组右侧膈肌萎缩的严重程度显著高于非CS组（p = 0.029）。此外，所有CS患者均出现右侧膈肌和肝脏位置异常以及肠道异常扩张的情况，而非CS患者均未出现（p = 0.029，每项）。
在LOPD患者中，CS的患病率高达43%，与健康组相比，甚至在呼吸肌同样受损的神经肌肉疾病中也更高。膈肌和肝脏的解剖位置异常、膈肌萎缩和脂肪浸润以及肠道异常扩张与LOPD中的CS显著相关。我们在LOPD患者的随访中应更加关注CXR或腹部CT。
