Chronic Megacolon Presenting in Adolescents or Adults: Clinical Manifestations, Diagnosis, and Genetic Associations.

OBJECTIVE: Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung's megacolon. METHODS: PubMed search was conducted using specific key words. RESULTS: This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon. CONCLUSIONS: Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.

Acquired isolated hypoganglionosis as a distinct entity: results from a nationwide survey.

PURPOSE: Acquired isolated hypoganglionosis (A-IH) is a late-onset intestinal pseudo-obstruction disorder and shows different pathophysiological findings from congenital isolated hypoganglionosis (C-IH). In this study, we retrospectively examined five cases of A-IH and investigated the features of A-IH. METHODS: Five cases of A-IH were extracted from a nationwide retrospective cohort study in 10 years, from which totally 355 cases of Allied Disorders of Hirschsprung's Disease (ADHD) were collected. RESULTS: Ages of onset were between 13 and 17 years in three cases, and 4 years and 4 months in ones. Initial symptoms were abdominal distension and/or chronic constipation in 4 cases, whereas one exhibited intestinal perforation. Affected lesions varied from case to case, extending various length of intestinal tracts. All cases underwent multiple operations (average: 4.6 times), such as enterostomy, resection of dilated intestines, and/or pull-through. Pathological findings showed the decreased numbers of ganglion cells and degeneration of ganglion cells, whereas the size of the plexus was normal. Currently, all cases were alive and almost all eat regular food without requiring parenteral feeding. CONCLUSION: A-IH is rare, but distinct entity characterized by different clinical courses and pathological findings from those of C-IH. The outcome is considered to be favorable after a resection of affected intestine.

Symptoms and diagnostic criteria of acquired Megacolon - a systematic literature review.

BACKGROUND: Acquired Megacolon (AMC) is a condition involving persistent dilatation and lengthening of the colon in the absence of organic disease. Diagnosis depends on subjective radiological, endoscopic or surgical findings in the context of a suggestive clinical presentation. This review sets out to investigate diagnostic criteria of AMC. METHODS: The literature was searched using the databases - PubMed, Medline via OvidSP, ClinicalKey, Informit and the Cochrane Library. Primary studies, published in English, with more than three patients were critically appraised based on study design, methodology and sample size. Exclusion criteria were studies with the following features: post-operative; megarectum-predominant; paediatric; organic megacolon; non-human; and failure to exclude organic causes. RESULTS: A review of 23 articles found constipation, abdominal pain, distension and gas distress were predominant symptoms. All ages and both sexes were affected, however, symptoms varied with age. Changes in anorectal manometry, histology and colonic transit are consistently reported. Studies involved varying patient numbers, demographics and data acquisition methods. CONCLUSIONS: Outcome data investigating the diagnosis of AMC must be interpreted in light of the limitations of the low-level evidence studies published to date. Proposed diagnostic criteria include: (1) the exclusion of organic disease; (2) a radiological sigmoid diameter of ~ 10 cm; (3) and constipation, distension, abdominal pain and/or gas distress. A proportion of patients with AMC may be currently misdiagnosed as having functional gastrointestinal disorders. Our conclusions are inevitably tentative, but will hopefully stimulate further research on this enigmatic condition.

The correlation between diverticulosis and redundant colon.

BACKGROUND: Diverticulosis and redundant colon are colonic conditions for which underlying pathophysiology, management and prevention are poorly understood. Historical papers suggest an inverse relationship between these two conditions. However, no further attempt has been made to validate this relationship. This study set out to assess the correlation between diverticulosis and colonic redundancy. METHODS: Redundant colon, diverticulosis and patient demographics were recorded during colonoscopy. Multivariate binary logistic regression was performed with redundant colon as the dependent variable and age, gender and diverticulosis as independent variables. Nagelkerke R 2 and a receiver operator curve were calculated to assess goodness of fit and internally validate the multivariate model. RESULTS: Redundant colon and diverticulosis were diagnosed in 31 and 113 patients, respectively. The probability of redundant colon was increased by female gender odds ratio (OR) 8.4 (95% CI 2.7-26, p = 0.00020) and increasing age OR 1.7 (95% CI 1.1-2.6, p = 0.017). Paradoxically, diverticulosis strongly reduced the probability of redundant colon with OR of 0.12 (95% CI 0.42-0.32, p = 0.000039). The Nagelkerke R 2 for the multivariate model was 0.29 and the area under the curve at ROC analysis was 0.81 (95% CI 0.73-0.90 p-value 3.1 × 10-8). CONCLUSIONS: This study found an inverse correlation between redundant colon and diverticulosis, supporting the historical suggestion that the two conditions rarely occur concurrently. The underlying principle for this relationship remains to be found. However, it may contribute to the understanding of the aetiology and pathophysiology of these colonic conditions.

[Rehbein procedure for secondary megacolon in children]. / Operatsiia Rebeina pri vtorichnom megakolon u detei.

AIM: To evaluate the results of Rehbein procedure with extraperitoneal colorectal anastomosis combined with complex conservative treatment in children with secondary megacolon due to chronic constipation. MATERIAL AND METHODS: We carried out surgical interventions in 78 children aged 7-12 years with chronic colostasis resistant to conservative treatment. All patients underwent clinical, laboratory and instrumental examination. All patients were divided into 3 groups depending on type of surgery: group I - colon resection followed by intraperitoneal colorectal anastomosis (28 patients), group II - open Rehbein procedure (29 patients), group III - laparoscopic Rehbein procedure (21 patients). RESULTS: Absence of dyspeptic disorders and enterocolitis in remote postoperative period in patients receiving comprehensive treatment enhanced with new additions is the cause of improved outcomes. Type of surgery should be individualized in view of anatomical colon changes and secondary pathological conditions. Some pathological symptoms observed at preoperative period may be recurrent in long-term postoperative period due to wrong selection of surgery. The risk of recurrent chronic constipation is high after colon resection followed by intraperitoneal colorectal anastomosis. CONCLUSION: Rehbein procedure may be preferred for management of secondary megarectum and megasigma. Laparoscopic technique reduces surgical trauma and requires less postoperative analgesia.

[Megacolon and sigmoid volvulus: incidence and physiopathology]. / Megacolon y vólvulo de sigmoides: incidencia y fisiopatología.

The etiology of Megacolon is multiple. One of these causes and the most frequent is Chagas disease. Its complication: sigmoid volvulus was de main diagnosis in the admitted patients at the Bolivian and Japanese Gastroenterological Institute of Cochabamba Bolivia. It usually affects people of a low economic income. In this Gastroenterological Hospital a transversal and prospective study has been done, in order to know the real incidence and the physiopathology of this disease. In a six year period, from 2000 to 2006, 8.954 patients were admitted to the Hospital: of these, 814 (9.09%), where diagnosticated as lower intestinal obstruction. In 608 (74.7%) the final diagnosis was sigmoid torsion. Radiological diagnosis was made in 84% of the patients and endoscopic decompression was successful in 88.7%. As reported in the medical literature, the main cause of megacolon in this part of the world is Chagas disease. In our investigation 22% (98 patients), were serology positive to Chagas disease, and another 21.44% (95 patients) were serology negative. They were coca leaf chewers. One of coca leaf compounds is cocaine which blocks the adrenaline and noradrenaline degradation by mean of monoamine oxidase inactivation. These two hormones stay a long term of time in the target organ: the large bowel. By this mean chronic and persistent vessel constriction develops intestinal wall atrophy and lower resistance to the intraintestinal pressure.

Could the complications of megacolon be avoided by monitoring the risk patients? cases report.

We report 2 cases of megacolon associated with cerebrovascular accident and neuropsychiatric drug consumption. Case report 1: a 75-year-old woman with diabetes mellitus, hypertension, tachycardia with atrial fibrillation, bilateral pleural effusions and previous cerebral hemorrhage was admitted in our hospital. She presented clouded sensorium and abdominal distension, with closed alvus. The CT scan showed a distension of the colon, with severe fecal impaction. A volvulus of the sigma was found at surgical intervention.Case report 2: a 59-year-old man with a medical history of oligophrenia was admitted to our hospital for acute abdomen.He presented stupor and closed alvus with abdominal distension. The abdominal CT scan showed a dolichosigma, with fecal impaction. The patient was submitted to a laparotomy and a two millimetres perforation of the sigma was found.The sigma had a diameter of 28 cm and a length of 75 cm.Even if a clear correlation has not been found yet, anomalies of the regulation of the gastro-intestinal motility can occur at different levels in patients with psychiatric or cerebrovascular diseases and drug consumption with anticholinergic properties,and they should be carefully monitored. The purpose is an early diagnosis of colon function anomalies in order to avoid potentially fatal complications.

Megacolon diagnosis in pregnancy: A case report and literature review.

Megacolon is a rare clinical condition consisting of an abnormally dilated colon in the absence of mechanical obstruction. Megacolon can complicate pregnancy in terms of maternal morbidity and mortality (volvulus, ileus, systemic toxicity, bowel perforation, sepsis) and obstetrical outcomes (preterm birth, premature rupture of membranes, dystocia). Pregnancy, on the other hand, can exacerbate chronic constipation through hormonal and mechanical mechanisms. A case of megacolon, first detected during pregnancy in an otherwise healthy nulliparous woman, is reported. The diagnosis was suspected on observation of a pelvic mass of unknown aetiology (mean diameter > 10 cm) constricting and dislocating the gravid uterus contralaterally during a routine mid-trimester fetal ultrasound. The diagnostic work-up and management are discussed. Chronic constipation in women of reproductive age should receive greater clinical attention during pre- and periconception care. A multi-disciplinary approach, timely diagnosis and delivery planning are fundamental to ensure favourable outcomes for both the mother and fetus when dealing with megacolon during pregnancy.

Megacystis, megacolon, and malrotation: a new syndromic association?

Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation).

Biomarkers and Their Possible Functions in the Intestinal Microenvironment of Chagasic Megacolon: An Overview of the (Neuro)inflammatory Process.

The association between inflammatory processes and intestinal neuronal destruction during the progression of Chagasic megacolon is well established. However, many other components play essential roles, both in the long-term progression and control of the clinical status of patients infected with Trypanosoma cruzi. Components such as neuronal subpopulations, enteric glial cells, mast cells and their proteases, and homeostasis-related proteins from several organic systems (serotonin and galectins) are differentially involved in the progression of Chagasic megacolon. This review is aimed at revealing the characteristics of the intestinal microenvironment found in Chagasic megacolon by using different types of already used biomarkers. Information regarding these components may provide new therapeutic alternatives and improve the understanding of the association between T. cruzi infection and immune, endocrine, and neurological system changes.

The "misfortune" of being a COVID-19 negative patient during the coronavirus pandemic.

COVID-19 pandemic has obviously affected patients' behavior towards seeking medical help as well as physicians' decision in the management of emergencies. Our recent experience as surgeons at a COVID-19 referral hospital revealed cases which share an alerting characteristic: the delay in appropriate management. Unfortunately for COVID-19 negative patients a "coronacentric" health system has been adopted. In view of measures applied to avoid spread of the disease, a significant delay in patients' presentation as well as in their in-hospital management is observed. We present cases where delay in appropriate management affected the patients' outcome and underline the fact that balancing between COVID-19 safety measures and a patient who needs urgent treatment can be very challenging and stressful.

Chagasic megacolon associated with Trypanosoma cruzi I in a Colombian patient.

Chagasic megacolon has been reported in the southern cone countries of South America and is mainly associated with Trypanosoma cruzi II infection. Herein, we report the first case in Colombia of chagasic megacolon with cardiomyopathy associated with the T. cruzi I lineage. This finding suggests that in Colombia, as well as in other northern countries of South America and throughout Central America, where T. cruzi I is endemic, cardiomyopathy may not be the only clinical form of Chagas disease.

Megacolon, hypoganglionosis, and cerebrovascular disease.

INTRODUCTION: Gastrointestinal dysmotility has recently been recognized as a sequela of cerebrovascular accident. CASE REPORT: This paper reports the case of a 58-year-old man who presented to an emergency department with severe abdominal pain and distention. He had no prior history of constipation or other symptom of gastrointestinal dysmotility, but did suffer a cerebrovascular accident ten years previously. A diagnosis of colonic volvulus was made. Following partial mechanical decompression, sigmoid colectomy was performed, revealing a severely distended colon with marked wall thickening. Pathology revealed hypogangliosis and disrupted crypt architecture, establishing the diagnosis of idiopathic megacolon with hypogangliosis. DISCUSSION: Chronic gastrointestinal dysmotility has recently been recognized as a sequela of cerebrovascular accident, but is also commonly found following other forms of central nervous system injury. This association likely follows disrupted communication between central autonomic regulatory pathways and intestinal enteric pacemakers. CONCLUSIONS: Gastrointestinal dysmotility is a consequence of neurologic injury, and must be addressed in recommendations for long-term care following a cerebrovascular accident. Current recommendations focus on acute treatment, but do not recommend measures to promote colonic health and gastrointestinal motility.

Unusual case of cholecystocolonic fistula secondary to megabowel.

Cholecystocolonic fistula with associated idiopathic megabowel (megacolon and megarectum) is a rare presentation as acute large bowel obstruction. Frequently presenting with chronic constipation, acute bowel obstruction is rarely encountered in the presence of concomitant cholecystocolonic fistula. This presents diagnostic and management difficulties with no consensus on appropriate surgical approach. This case highlights the outcomes following emergency total colectomy and subtotal cholecystectomy as a single-stage procedure for a 68-year-old man presenting with cholecystocolonic fistula secondary to idiopathic megabowel as acute large bowel obstruction.

An unusual cause of idiopathic megacolon in a juvenile: A case report.

RATIONALE: Idiopathic megacolon (IMC) is a rare condition in young children. The association of indigestible food and IMC has never been mentioned in literature. PATIENT CONCERNS: An 11-year-old boy reported with a 1-year duration of intermittent constipation and abdominal distension after having eaten a large amount of fried sticky rice in 1 consumption. DIAGNOSES: Chronic low colonic obstruction, IMC and malnutrition. INTERVENTIONS: This patient was managed conservatively for 1 week at first. Then he underwent loop ileostomy since conservative therapy was poorly tolerated. Enteral decompression, gut biopsy, peritoneal lavage, and drainage were performed in the same procedure. OUTCOMES: Rapid weight gain was observed 4 months after operation. LESSONS: IMC is difficult to diagnose due to the lack of specific clinical manifestations and pathological features. The protocols for management of IMC remains controversial. To achieve a good long-term outcome, early intervention is recommended.

Novel concepts in the diagnosis, pathophysiology and management of idiopathic megabowel.

A proportion of patients with intractable constipation have persistent dilatation of the bowel, which in the absence of an organic cause is termed idiopathic megabowel (IMB). Whilst uncommon, this condition results in considerable morbidity. Traditional methods of identifying such patients are associated with inherent methodological limitations with anorectal manometry and contrast studies overestimating and underestimating the prevalence of the condition, respectively. Recently, controlled, pressure-based distension during fluoroscopic imaging has allowed more accurate identification of patients on the basis of a rectal diameter > 6.3 cm at the minimum distension pressure. Histopathological abnormalities of all three final effectors of sensorimotor function have been reported, although it remains unclear whether these changes are primary, secondary or epiphenomic. Physiological abnormalities of sensorimotor function, namely impaired perception of rectal distension and delayed colonic transit are well documented in patients with IMB. Further, the recent demonstration of two subgroups of patients, defined on the basis of rectal compliance, suggests the possibility that they differ pathophysiologically, although the clinical relevance of this distinction is uncertain. Surgery is performed when conservative therapy is ineffective or poorly tolerated. Numerous procedures have been attempted with variable success rates and significant mortality and morbidity. Surgery should preferably be performed in specialist centres given the relative infrequency with which such patients are encountered, and that they require comprehensive clinical, psychological and physiological evaluation preoperatively.

Acquired non-Chagas megacolon associated with the use of psychiatric medication: case report and differential diagnosis with Chagas megacolon.

A case of acquired megacolon in a 62-year-old man with acute abdomen due to sigmoid volvulus is reported. The case was associated with the use of psychiatric medications. The aim in this report was to emphasize the differential diagnosis with Chagas megacolon. Anatomopathological examination did not show any evidence of denervation, ganglionitis and/or myositis, and the serological test for Chagas disease was negative.

Abdominal compartment syndrome secondary to megarectum and megasigmoid.

A 31-year-old male patient with chronic constipation of unknown aetiology presented emergently with worsening nausea, vomiting and abdominal distension of one week duration. On examination, his abdomen was distended with minimal tenderness. A plain film of the abdomen demonstrated severe faecal loading. The patient was haemodynamically unstable on admission and appeared sick. An urgent CT abdomen and pelvis was conducted showing extensive rectal dilatation and associated proximal colonic stercoral perforation. The patient proceeded straight to theatre for laparotomy as his general condition was deteriorating rapidly. On transfer to the operating table, the patient suffered cardiopulmonary arrest. Resuscitation was immediately commenced. Abdominal compartment syndrome was suspected. Cardiac output was re-established following a midline laparotomy which acted relieve the abdominal pressure. The rectosigmoid faecal content was decompressed via an enterotomy. The perforated segment of transverse colon was resected and an end colostomy fashioned. A year later, the continuity of the bowel was re-established.