Chronic intestinal pseudo-obstruction (CIPO) is a disease with a wide variety of clinical and histological features, characterized by a decrease in intestinal peristalsis and symptoms of intestinal obstruction.1 A nationwide survey in the United States reported that there were 100 CIPO patients each year, and another nationwide survey in Japan reported an estimated pediatric prevalence of 3.7 per 1 million individuals.2,3 CIPO can involve any segment of the gastrointestinal and genitourinary tracts, and gastrointestinal symptoms, such as abdominal distention, abdominal pain and vomiting, and urinary symptoms, such as urination disorder, may occur.1,4 Patients with CIPO often undergo ileostomy and colostomy repeatedly.4-7
CIPO is classified as either a myopathy or a neuropathy, depending on histopathology. The genetic basis of CIPO was first reported by Lehtonen et al8 in 2012. Since then, several genes related to CIPO have been discovered, of which actin gamma 2 (
The purpose of this study is to investigate the clinical features and
In patients with suspected intestinal obstruction, abdominal radiography is performed to determine if there is bowel dilation and air-fluid levels. If there is no fixed lesion or mechanical obstruction, it can be diagnosed as a pseudo-obstruction. If the symptoms persist for more than 6 months or postnatally for more than 2 months, CIPO may be diagnosed.11 A total of 12 patients diagnosed with CIPO at National University Hospital from January 1995 to August 2020 were included. Twelve patients were examined, and their medical records were retrospectively analyzed. Medical records included age, sex, age at onset, presenting symptoms, imaging studies, laboratory findings, and growth curves.
This study was approved by the Institutional Review Board (No. 1910-065-1070) at the performing institution. IBM SPSS Statistics 25 software was used to complete the statistical analysis. Fisher’s exact test was performed to compare the clinical features between patients with and without
Among the 12 patients, 11 underwent direct sequencing of
Twelve patients were analyzed, and 6 were identified with
Table 2 compares patients with and without
The clinical characteristics of the 6 patients with
The follow-up period of patients ranged from 44 months to 24 years with a median value of 62 months. All patients underwent abdominal surgeries. Jejunostomy was performed in 2 patients, ileostomy in all 6 patients, and colostomy in 1 patient. Cholecystectomy, gastrectomy, and colectomy were performed in Case 3. None of the patients received an intestinal transplant and all patients are still alive. Long-term CIC was performed in 2 patients (33.3%), and Case 6 underwent vesicotomy 5 months immediately after diagnosis. All patients remain dependent on PN with oral feeding. Among them, Case 4 recently discontinued PN, whereas Case 5 recently initiated PN. Central line-associated bloodstream infection (CLABSI) was observed in 3 patients, and fatty liver was observed in 2 patients. One patient suffered recurrent small intestinal bacterial overgrowth and currently takes cyclic antibiotics. Pyridostigmine, an acetylcholinesterase inhibitor that stimulates gastrointestinal motility, was administered to 3 patients, and symptoms improved in 2 of them.
In this study, we investigated the spectrum of clinical features and
In this study, 4
We found that in the patient group with
Thinning and vacuolar changes of the muscle layer found in this study are key features of visceral myopathy. Nuclear palisading is a nonspecific histopathologic findings of myopathy, which is occasionally observed in other studies.18,19 Acidophilic globular body is a novel and pathologic finding, which is not observed in normal intestinal muscle proper, and appears to be related with muscular degenerative changes. Also, ganglion cell abnormalities such as hypoganglionosis and immature ganglia were found in all 6 patients with
In this study, different abdominal surgeries were performed. Six patients received 26 surgeries and a mean of 4.3 surgeries per patient, with the most common operation being ostomy, which is similar to the results of other studies.7,13,22,25 In this study, all patients were dependent on PN, which is similar to the results of other studies.13,25,26 Long-term home PN causes several complications.27,28 CLABSI was observed in 3 patients (50.0%), and fatty liver was observed in 2 patients (33.3%) in this study. To reduce the complications of long-term PN, fish oil-based lipid emulsions are used and enteral feeding is maintained.11,16 Thus, cirrhosis may not develop in this study. Previous studies have reported that the survival rate was 12.6-19.7%, and the oldest survivor was 25 years old.7,16,22 Mortality was associated with a short small intestine, involvement of the urinary system, < 1 year of age of onset, and myopathy on histology.29 In this study, the survival rate of CIPO was 100.0%, and the oldest survivor was 27 years old. The remarkable improvement in prognosis in this study may have resulted from improvements in nutritional management and supportive care with intestinal rehabilitation programs.7,26,30,31 In this study, pyridostigmine was administered to 3 patients, and was effective in 2 of them. Pyridostigmine has been demonstrated to be effective in colonic decompression in pediatric CIPO patients.32,33
The limitation of this study is that the number of CIPO patients was small, and the study was conducted at a single center. A multicenter study involving a large number of Korean patients with CIPO is needed.
This study was supported by grant (No. 0420203090) from Seoul National University Hospital.
Jong Woo Hahn: collecting, interpreting data, and drafting the manuscript; Soo Young Moon, Min Soo Kim, Min Hyung Woo, and Min Ji Sohn: interpreting data; Hyun-Young Kim: conducting the study; Moon-Woo Seong, Sung Sup Park, and Sung-Hye Park: conducting the study and interpreting data; Jin Soo Moon: conducting the study, interpreting the data, and revising the manuscript; and Jae Sung Ko: planning and conducting the study, interpreting the data, and revising the manuscript.