-
The Pan African Medical Journal 2013Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a...
Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.
Topics: Endothelins; Fatal Outcome; Hirschsprung Disease; Humans; Infant, Newborn; Male; Pigmentation Disorders; Waardenburg Syndrome
PubMed: 23565307
DOI: 10.11604/pamj.2013.14.60.1543 -
Pediatric Surgery International Apr 2016Hirschsprung's disease (HSCR) is a common cause of neonatal bowel obstruction and the approach to diagnosis and surgical treatment is well defined and accepted.... (Review)
Review
Hirschsprung's disease (HSCR) is a common cause of neonatal bowel obstruction and the approach to diagnosis and surgical treatment is well defined and accepted. Hirschsprung's-associated enterocolitis (HAEC) remains a frequent cause of pre-operative and post-operative morbidity and mortality, with unchanged treatment guidelines over multiple decades. Recent advances in our understanding of the genetics underlying HSCR have allowed the development of animal models, some of which recapitulate the HAEC phenotype. These animal models, along with recent translational studies, have implicated multiple facets of mucosal immunity and microbiome dysbiosis in the development of HAEC. Here, we will review the established epidemiology, modes of diagnosis and treatment of HAEC. Furthermore, we will explore emerging concepts in the pathogenesis of this disease; including animal models, alterations in mucosal immunity, dysbiosis of the intestinal microbiome, specific genetic susceptibility, and novel treatment modalities.
Topics: Animals; Disease Models, Animal; Hirschsprung Disease; Humans
PubMed: 26783087
DOI: 10.1007/s00383-016-3862-9 -
BMC Gastroenterology Jan 2018Acquired Megacolon (AMC) is a condition involving persistent dilatation and lengthening of the colon in the absence of organic disease. Diagnosis depends on subjective... (Review)
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.
Topics: Abdominal Pain; Colonography, Computed Tomographic; Colonoscopy; Constipation; Gases; Gastrointestinal Transit; Humans; Intestines; Manometry; Megacolon
PubMed: 29385992
DOI: 10.1186/s12876-018-0753-7 -
Histochemistry and Cell Biology Sep 2014Megacolon, the irreversible dilation of a colonic segment, is a structural sign associated with various gastrointestinal disorders. In its hereditary, secondary form... (Review)
Review
Megacolon, the irreversible dilation of a colonic segment, is a structural sign associated with various gastrointestinal disorders. In its hereditary, secondary form (e.g. in Hirschsprung's disease), dilation occurs in an originally healthy colonic segment due to an anally located, aganglionic zone. In contrast, in chronic Chagas' disease, the dilated segment itself displays pathohistological changes, and the earliest and most prominent being found was massive loss of myenteric neurons. This neuron loss was partial and selective, i.e. some neurons containing neuronal nitric oxide synthase and/or vasoactive intestinal peptide (VIP) were spared from neuron death. This disproportionate survival of inhibitory neurons, however, did not completely correlate with the calibre change along the surgically removed, megacolonic segments. A better correlation was observed as to potentially contractile muscle tissue elements and the interstitial cells of Cajal. Therefore, the decreased densities of α-smooth muscle actin- and c-kit-immunoreactive profiles were estimated along resected megacolonic segments. Their lowest values were observed in the megacolonic zones itself, whereas less pronounced decreases were found in the non-dilated, transitional zones (oral and anal to dilation). In contrast to the myenteric plexus, the submucosal plexus displayed only a moderate neuron loss. Neurons co-immunoreactive for VIP and calretinin survived disproportionately. As a consequence, these neurons may have contributed to maintain the epithelial barrier and allowed the chagasic patients to survive for decades, despite their severe disturbance of colonic motility. Due to its neuroprotective and neuroeffectory functions, VIP may play a key role in the development and duration of chagasic megacolon.
Topics: Animals; Chagas Disease; Humans; Megacolon; Neurons; Nitric Oxide Synthase Type I; Vasoactive Intestinal Peptide
PubMed: 25059649
DOI: 10.1007/s00418-014-1250-x -
Memorias Do Instituto Oswaldo Cruz Jul 2009One hundred years since the discovery of Chagas disease associated with Trypanosoma cruzi infection, growing attention has focused on understanding the evolution in... (Review)
Review
One hundred years since the discovery of Chagas disease associated with Trypanosoma cruzi infection, growing attention has focused on understanding the evolution in parasite-human host interaction. This interest has featured studies and results from paleoparasitology, not only the description of lesions in mummified bodies, but also the recovery of genetic material from the parasite and the possibility of analyzing such material over time. The present study reviews the evidence of Chagas disease in organic remains excavated from archeological sites and discusses two findings in greater detail, both with lesions suggestive of chagasic megacolon and confirmed by molecular biology techniques. One of these sites is located in the United States, on the border between Texas and Mexico and the other in state of Minas Gerais, in the Brazilian cerrado (savannah). Dated prior to contact with Europeans, these results confirm that Chagas disease affected prehistoric human groups in other regions outside the Andean altiplanos and other transmission areas on the Pacific Coast, previously considered the origin of T. cruzi infection in the human host.
Topics: Americas; Animals; Chagas Disease; Feces; Fossils; History, Ancient; Humans; Megacolon; Mummies; Paleopathology; Trypanosoma cruzi
PubMed: 19753453
DOI: 10.1590/s0074-02762009000900004 -
BMJ Case Reports Jan 2018
Topics: Abdominal Pain; Aged; Air; Back Pain; Chest Pain; Diagnosis, Differential; Diverticulitis; Female; Humans; Male; Megacolon, Toxic; Middle Aged; Pneumoperitoneum; Retropharyngeal Abscess; Tomography, X-Ray Computed
PubMed: 29326374
DOI: 10.1136/bcr-2017-223081 -
Journal of Pediatric Surgery Sep 2022Despite significant progress in our understanding of the etiology and pathophysiology of Hirschsprung disease (HSCR), early and accurate diagnosis and operative... (Review)
Review
Despite significant progress in our understanding of the etiology and pathophysiology of Hirschsprung disease (HSCR), early and accurate diagnosis and operative management can be challenging. Moreover, long-term morbidity following surgery, including fecal incontinence, constipation, and Hirschsprung-associated enterocolitis (HAEC), remains problematic. Recent advances applying state-of-the art imaging for visualization of the enteric nervous system and utilizing neuronal stem cells to replace the missing enteric neurons and glial cells offer the possibility of a promising new future for patients with HSCR. In this review, we summarize recent research advances that may one day offer novel approaches for the diagnosis and management of this disease.
Topics: Constipation; Enteric Nervous System; Enterocolitis; Fecal Incontinence; Hirschsprung Disease; Humans
PubMed: 34852916
DOI: 10.1016/j.jpedsurg.2021.10.049 -
BMJ Case Reports May 2019A female aged 84 years with a history of -associated diarrhoea presented from an extended care facility with altered mental status and respiratory distress. She was...
A female aged 84 years with a history of -associated diarrhoea presented from an extended care facility with altered mental status and respiratory distress. She was haemodynamically unstable and initial laboratory results revealed hyperleucocytosis (110.3×10/L). The presence of immature myeloid precursors, thrombocytopenia and respiratory distress, raised concern for an acute leukaemic process requiring emergent leucapheresis. However, on evaluation of the peripheral smear, prominent left shift and toxic granulation were noted, along with absence of blast cells. Considering her history of infection, a CT scan of the abdomen and pelvis was obtained, which was suggestive of toxic megacolon. She was taken to the operating room for emergent colectomy. The pathology specimen showed pseudomembrane formation consistent with fulminant infection. She was treated with oral vancomycin and intravenous metronidazole, followed by clinical improvement and resolution of leucocytosis and thrombocytopenia.
Topics: Aged, 80 and over; Anti-Bacterial Agents; Clostridium Infections; Colectomy; Diagnosis, Differential; Female; Humans; Leukemia; Leukocytosis; Megacolon, Toxic; Metronidazole; Tomography, X-Ray Computed; Vancomycin
PubMed: 31129636
DOI: 10.1136/bcr-2018-228219 -
Global Heart Sep 2015Chagas disease, caused by infection with the protozoa Trypanosoma cruzi is transmitted most often by Triatominae insect vectors, but also through blood transfusion,... (Review)
Review
Chagas disease, caused by infection with the protozoa Trypanosoma cruzi is transmitted most often by Triatominae insect vectors, but also through blood transfusion, organ transplant, and congenital transmission. Between 5 and 18 million people are currently infected and the infection is estimated to cause more than 10,000 deaths annually. The disease has 3 phases: acute, indeterminate, and chronic. The acute phase immediately follows infection. It is typically asymptomatic but produces fever and malaise in up to 5% of people. The indeterminate phase is asymptomatic. More than one-half of those infected will remain in this phase for life and never experience long-term sequelae. After a decade or more, 20% to 30% of people will experience chronic cardiovascular Chagas disease with sequelae including heart failure, arrhythmias, and thromboembolism. Another 15% to 20% will experience chronic digestive sequela including megaesophagus and megacolon. A complete accounting of the burden of Chagas disease requires estimating the prevalence of the infection, the prevalence of each of its sequelae among those with the infection, and the number of deaths attributable to the infection. Attempts to estimate Chagas disease prevalence are complicated by several challenges imposed by the disease's extreme spatial heterogeneity, quickly evolving temporal trends, the decades-long lag between infection and symptomatic disease, biased prevalence data, incomplete recognition of Chagas-attributable deaths, limited data on sequela, and a near total absence of data outside of endemic countries. Even though researchers have found methodological approaches to dealing with these challenges, there is a need for better data.
Topics: Acute Disease; Animals; Chagas Cardiomyopathy; Chagas Disease; Chronic Disease; Esophageal Achalasia; Humans; Insect Vectors; Latin America; Megacolon; Prevalence; Triatominae; Trypanosoma cruzi
PubMed: 26407508
DOI: 10.1016/j.gheart.2015.06.001 -
Journal of Immunology Research 2021The association between inflammatory processes and intestinal neuronal destruction during the progression of Chagasic megacolon is well established. However, many other... (Review)
Review
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 . 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 infection and immune, endocrine, and neurological system changes.
Topics: Animals; Biomarkers; Cellular Microenvironment; Chagas Disease; Endocrine System; Humans; Immune System; Inflammation; Megacolon; Nervous System; Neuroimmunomodulation; Trypanosoma cruzi
PubMed: 33928170
DOI: 10.1155/2021/6668739