BACKGROUND: Diaphragmatic eventration (DE) associated with gastrointestinal anomalies is rarely reported, and its treatment is not well defined.
METHODS: We present a 24-years-old male admitted for cough, dyspnea, and chest pain, all of gradual onset. Chest computerized tomography (CT) and chest x-ray diagnosed diaphragmatic eventration and colonic distension. He underwent surgery via a posterolateral thoracotomy. We found colonic distension which pushed the left hemidiaphragm under intense pressure further into the chest, making immediate diaphragmatic plication via the chest difficult. We managed this by colonic needle decompression followed by resection and plication of the diaphragm. The patient had a satisfactory postoperative recovery with a good respiratory profile and no constipation. At a follow up visit, barium enema showed megacolon with no apparent etiology. He is to have a long-term outpatient follow up.
CONCLUSIONS: Diaphragmatic eventration coexisting with megacolon is rare. Data available suggests supplementary abdominal workup is necessary to better plan the surgery. Surgical correction via an abdominal route tends to be more appropriate in these scenarios.
CONCLUSIONS: In cases of gastrointestinal anomaly associated with diaphragmatic eventration, more careful abdominal consideration is needed to better plan the surgery.

Disorders of gastrointestinal motility are the major physiologic problem in chagasic megacolon. The contraction mechanism is complex and controlled by different cell types such as enteric neurons, smooth muscle, telocytes, and an important pacemaker of the intestine, the interstitial cells of Cajal (ICCs). The role of ICCs in the progression of acute and chronic Chagas disease remains unclear. In the present work, we investigate the aspects of ICCs in a long-term model of Chagas disease that mimics the pathological aspects of human megacolon. Different subsets of ICCs isolated from Auerbach\'s myenteric plexuses and muscle layers of control and Trypanosoma cruzi infected animals were determined by analysis of CD117, CD44, and CD34 expression by flow cytometer. Compared with the respective controls, the results showed a reduced frequency of mature ICCs in the acute phase and three months after infection. These results demonstrate for the first time the phenotypic distribution of ICCs associated with functional dysfunction in a murine model of chagasic megacolon. This murine model proved valuable for studying the profile of ICCs as an integrative system in the gut and as a platform for understanding the mechanism of chagasic megacolon development.

Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung\'s disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.

We hereby present a 70-year-old male Ethiopian farmer who presented with clinical manifestations suggestive of acute large bowel obstruction, which had persisted for 3 days. Over the past 3 years, he has experienced three similar recurring episodes, which were alleviated by decompression using a rectal tube. Upon initial examination, the patient displayed signs of cardiopulmonary distress, although no indications of peritonitis were observed. Further evaluation through plain abdominal and chest X-rays revealed findings consistent with sigmoid volvulus, as well as mediastinal shift, elevated diaphragm, and a right-positioned heart. Consequently, a sigmoid resection and an end colostomy were done. The patient showed improvement and was discharged from the hospital on the 14th day following the surgery. It is atypical for an individual to present with acute sigmoid volvulus accompanied by a mediastinal shift resulting from mass action on the hemidiaphragm. Therefore, it may be imperative to involve a pulmonologist in managing this rare situation. By ensuring that the surgical team is well-informed in such circumstances, patients can receive enhanced care and treatment.

暂无摘要。

OBJECTIVE: This study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic constipation (CIC).
METHODS: A retrospective study was conducted. We included all patients with CIC who participated in our RS-BMP at Children´s Hospital Colorado from July 2016 to October 2022.
RESULTS: Eighty patients were included. The average time with constipation was 5.6 years. Before our RS-BMP, 95% had received non-radiologically supervised treatments, and 71% had attempted two or more treatments. Overall, 90% had tried Polyethylene Glycol and 43% Senna. Nine patients had a history of Botox injections. Five underwent anterograde continence procedure, and one a sigmoidectomy. Behavioral disorders (BD) were found in 23%. At the end of the RS-BMP, 96% of patients had successful outcomes, 73% were on Senna, and 27% were on enemas. Megarectum was detected in 93% of patients with successful outcomes and 100% with unsuccessful outcomes (p = 0.210). Of the patients with BD, 89% had successful outcomes, and 11% had unsuccessful.
CONCLUSIONS: Our RS-BMP has been proven to be effective in treating CIC. The radiologically supervised use of Senna and enemas was the appropriate treatment in 96% of the patients. BD and megarectum were associated with unsuccessful outcomes.

In this prospective cohort study, we evaluated features of \"adult-onset megacolon with focal hypoganglionosis.\"
We assessed the radiologic, endoscopic, and histopathologic phenotyping and treatment outcomes of 29 patients between 2017 and 2020. Data from community controls, consisting of 19,948 adults undergoing health screenings, were analyzed to identify risk factors. Experts reviewed clinical features and pathological specimens according to the London Classification for gastrointestinal neuromuscular pathology.
The median age of the patients with adult-onset megacolon with focal hypoganglionosis at symptom onset was 59 years (range, 32.0-74.9 years), with mean symptom onset only 1 year before diagnosis. All patients had focal stenotic regions with proximal bowel dilatation (mean diameter, 78.8 mm; 95% confidence interval [CI], 72-86). The comparison with community controls showed no obvious risk factors. Ten patients underwent surgery, and all exhibited significant hypoganglionosis: 5.4 myenteric ganglion cells/cm (interquartile range [IQR], 3.7-16.4) in the stenotic regions compared to 278 cells/cm (IQR, 190-338) in the proximal and 95 cells/cm (IQR, 45-213) in the distal colon. Hypoganglionosis was associated with CD3+ T cells along the myenteric plexus. Colectomy was associated with significant symptom improvement compared to medical treatment [change in the Global Bowel Satisfaction score, -5.4 points (surgery) vs. -0.3 points (medical treatment); p < 0.001].
Adult-onset megacolon with focal hypoganglionosis has distinct features characterized by hypoganglionosis due to inflammation. Bowel resection appears to benefit these patients.

Primary hepatic paraganglioma (PGL) is a rare neuroendocrine tumor characterized by clinical manifestations including paroxysmal hypertension, palpitation, abdominal pain and constipation. In the present study, the case of a 21-year-old woman with pathologically confirmed hepatic PGL with megacolon following surgery is reported. The patient initially visited Beijing Tiantan Hospital (Beijing, China) for hypoferric anemia. A triple-phase CT scan of the whole abdomen showed a large hypodense mass with a solid periphery and strong arterial enhancement of the peripheral solid portion of the liver. The sigmoid colon and rectum were obviously distended, filled with gas and intestinal contents. The patient was preoperatively diagnosed with iron deficiency anemia, liver injury and megacolon and then underwent partial hepatectomy, total colectomy and enterostomy. Microscopically, the liver cells exhibited an irregular zellballen pattern. In addition, immunohistochemical staining revealed that liver cells were positive for CD56, chromogranin A, vimentin, S-100, melan-A and neuron-specific enolase. Therefore, the diagnosis of primary PGL of the liver was confirmed. These findings suggested that primary hepatic PGL should not be excluded when megacolon occurs and comprehensive imaging evaluation is of great importance for its diagnosis.

暂无摘要。

Idiopathic megarectum is characterized by abnormal, pronounced rectal dilatation in the absence of identifiable organic pathology. Idiopathic megarectum is uncommon and under-recognized. This study aims to describe the clinical features and management of idiopathic megarectum.
A retrospective review was undertaken on patients diagnosed with idiopathic megarectum with or without idiopathic megacolon over a 14-year period until 2021. Patients were identified from the hospital\'s International Classification of Diseases codes, and pre-existing clinic patient databases. Patient demographics, disease characteristics, healthcare utilization and treatment history data were collected.
Eight patients with idiopathic megarectum were identified; half of the patients were female, with the median age of symptom onset being 14 years (interquartile range [IQR] 9-24). The median rectal diameter measured was 11.5 cm (IQR 9.4-12.1). The most common presenting symptom was constipation, bloating and faecal incontinence. All patients required prior sustained periods of regular phosphate enemas and 88% were using ongoing oral aperients. Concomitant anxiety and or depression were found in 63% of patients and 25% were diagnosed with an intellectual disability. Healthcare utilization was high with a median of three emergency department presentations or ward admissions related to idiopathic megarectum per patient over the follow-up period; 38% of patients required surgical intervention during the period of follow-up.
Idiopathic megarectum is uncommon and associated with significant physical and psychiatric morbidity and high healthcare utilization.