Pseudomembranous colitis in Hirschsprung disease

Pseudomembranous colitis (PMC) is a potentially fatal complication in Hirschsprung's disease. The pathogenesis of PMC which usually takes a fulminant course, is obscure. The disease generally is associated with antibiotic therapy. We describe the clinical course and the pathological findings in a 7 1/2 months old infant with Hirschsprung's disease after surgical treatment. The pseudomembranous colitis of the patient with letal consequence is considered to be connected with antibiotic therapy.     

Hirschsprung disease: Paternal transmission to a son

Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.     

Hirschsprung disease outcomes

Hirschsprung disease (HD) is a complex surgical and medical problem that appears to have varied health and social outcomes with the age and neurodevelopmental state of patients. In general, long-term outcomes are thought to be good for the majority of patients despite recognized problems with constipation and/or fecal incontinence. However, there are no universally accepted pathways regarding post-operative bowel management programs nor clearly defined follow-up pathways making the current outcome measures difficult to interpret. Further, other factors that may influence outcome including age at the time of procedure and procedure type continue to lack consensus. Improved support of children in resource limited environments and during periods of transition into the adult medical care environment are needed to improve outcome.  Recent proliferation of multidisciplinary care teams and consortia may help to better understand outcomes and address current knowledge gaps. Continuing these collaborations will be imperative to continuing improvements in care which may ultimately impact outcome.     

Histochemical diagnosis of Hirschsprung disease

A histochemical staining technique for detection of acetylcholinesterase (AChE) in rectal suction biopsies was compared with the presence or absence of ganglion cells in full-thickness or suction biopsies for the diagnosis of Hirschsprung disease (HD) in infants and children. Biopsies from 55 of 58 children were adequate for both the AChE assay and routine pathologic examination for ganglion cells. Two patterns of AChE staining were noted. With pattern A, prominent nerve fibers staining for AChE were seen throughout the muscularis mucosa and the lamina propria. With pattern B, similar fibers were seen only in the muscularis mucosa and the areas of lamina propria that were immediately adjacent. No "false-negative" AChE staining reactions were found in patients with HD. No "false-positive" reactions showing pattern A were found. This pattern was diagnostic for HD. Three false-positive reactions were found showing pattern B in patients with conditions other than HD. Among 22 patients with HD, 19 were males and three were females. Pattern A occurred in all age groups and in both sexes. Pattern B in patients with HD was seen exclusively in male infants 1 month of age or less. Experience suggests that the AChE staining of rectal suction biopsies is an excellent screening test for HD in infants and children. If pattern B is encountered, however, the specimen should be examined by routine pathologic techniques for the presence of submucosal ganglion cells.     

Allergic colitis in exclusively breast-fed infants

We report a case of a false negative diagnosis of HIV-1 infection in an African girl. Two HIV-1 DNA polymerase chain reaction (PCR) tests were negative at the second and fourth months of life. Because anti-HIV antibodies persisted when the patient was 18 months old, the HIV-1 RNA PCR test was performed with a positive result, confirming HIV-1 non-B subtype, recombinant A-G. The prevalence of non-B HIV-1 subtypes are increasing in Spain, which could be related to the phenomenon of immigration. Approximately one-third of HIV-infected foreigners have non-B subtypes and the percentage increases to 70 % of the African population in Spain. In non-B HIV-1 subtypes, false negative results and inconsistencies between viral load and CD4 count are more frequent. These subtypes also show a higher rate of resistance to protease inhibitors, which can have therapeutic implications.     

Hirschsprung disease and anorectal malformation

Hirschsprung disease and Anorectal Malformations are congenital disorders presenting in neonates with distal intestinal obstruction. Hirschsprung disease is associated with a functional distal bowel obstruction resulting from the abnormal development of the enteric nervous system and ensuing aganglionosis of the distal gut. Anorectal Malformations comprise a spectrum of anatomical anomalies causing a mechanical bowel obstruction. Both conditions are frequently associated with congenital abnormalities/syndromes, which require careful assessment and evaluation. Surgical intervention is usually required for both conditions with careful preparation and meticulous technique. Long-term follow-up allows early identification and treatment of potentially debilitating symptoms, which include faecal incontinence.     

Redo pullthrough for Hirschsprung disease

Pullthrough procedures for Hirschsprung diseases typically have favorable results. However, some children experience long-term postoperative complications comprising stooling disorders, such as intermittent enterocolitis, severe stool retention, intestinal obstruction, as well as incontinence. Reoperative Hirschsprung Disease surgery is complex. This begins with the workup after the initial presentation following primary pullthrough, continues with the definitive surgical correction with redo pullthrough, and ends with long-term follow-up of individuals. The decision tree can be varied with each patient. The operating pediatric surgeon must be able to utilize different operations and treatment options available. While lesser procedures may provide relief in a select population, those with residual aganglionosis or transition zone pathology or mechanical problems will likely require a redo pullthrough. Thus, the diagnostic workup, treatment plan, and definitive surgical care should be coordinated, and executed by an experienced, specialized team at a pediatric referral center.     

Transanal pull-through for Hirschsprung disease

Hirschsprung (HSCR) disease is a relatively common neonatal developmental disorder of the enteric nervous system and is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal intestine. This results in absent peristalsis in the affected bowel, and the development of a functional intestinal obstruction. The pathogenesis and genetic basis of the disease is yet unclear. The surgical treatment of HSCR has evolved significantly since 1949 when Swenson first proposed a trans-abdominal pull-through procedure. The transanal pull-through consists of a rectal mucosectomy, resection of the aganglionic bowel and a colo-anal anastomosis. Recent literature and clinically controversies of this minimally invasive one-stage procedure are reviewed. Although follow up is still relatively short the preliminary results appear very favorable and cost effective.     

Imaging of total colonic Hirschsprung disease

Background  Hirschsprung disease (HD) is a functional obstruction of the bowel caused by the absence of intrinsic enteric ganglion cells. The diagnosis of total colonic HD (TCHD) based on contrast enemas is difficult in newborns because radiological findings vary. Objective  To evaluate the radiographic and contrast enema findings in patients with pathologically proven TCHD. Materials and methods  From 1966 to 2007, 17 records from a total of 31 patients with TCHD were retrospectively evaluated for diameter and shape of the colon, diameter of the small bowel, bowel wall contour, ileal reflux, abdominal calcifications, pneumoperitoneum, filling defects, transitional zones and rectosigmoid index. Results  Three colonic patterns of TCHD were found: microcolon, question-mark-shape colon and normal caliber colon. Additional findings included spasmodic colon, ileal reflux, delayed evacuation and abdominal calcifications. Colonic transitional zones were found in eight patients with TCHD. Conclusion  The diagnosis of TCHD is difficult to establish by contrast enema studies. The length of the aganglionic small bowel and the age of the patient can influence the radiological findings in TCHD. The transitional zone and the rectosigmoid index can be false-positive in TCHD. The colon can appear normal. Consider TCHD if the contrast enema study is normal but the patient remains symptomatic and other causes of distal bowel obstruction have been excluded.     

Embryology and anatomy of Hirschsprung disease

Bowel has its own elegant nervous system – the enteric nervous system (ENS) which is a complex network of neurons and glial clones. Derived from neural crest cells (NCCs), this little brain controls muscle contraction, motility, and bowel activities in response to stimuli. Failure of developing enteric ganglia at the distal bowel results in intestinal obstruction and Hirschsprung disease (HSCR). This Review summarises the important embryological development of the ENS including proliferation, migration, and differentiation of NCCs. We address the signalling pathways which determine NCC cell fate and discuss how they are altered in the context of HSCR. Finally, we outline the anatomical defects and the mechanisms underlying gut motility in HSCR.     

Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease)

Hirschsprung disease (HSCR) is a fairly well understood congenital, genetically based functional obstruction due to the congenital absence of ganglion cells in the distal bowel. However, although over 90% of Hirschsprung cases conform to the normally accepted histological diagnostic criteria, it has become increasingly clear that in addition to HSCR, there is a group of functional disturbances relating to a number of other congenital neurodysplastic conditions causing some degree of gastrointestinal tract malfunction. Although these represent a variety of possibly separate conditions of the enteric nervous system, this spectrum it would appear to be also influenced by similar developmental processes. The term “variant Hirschsprung” is commonly used to describe these conditions, but ganglion cells are mostly present if abnormal in number and distribution. These conditions are a problem group being amongst the most difficult to diagnose and treat with possible practical and legal consequences. The problem appears to be possibly one of definition which has proven difficult in the relative paucity of normal values, especially when correlated to age and gestation. It is the purpose of this paper to review the current position on these conditions and to explore possible shared common pathogenetic and genetic mechanisms. This article explores those conditions where a similar pathogenetic mechanisms to HSCR can be demonstrated (e.g. hypoganglionosis) as well as other neural features, which appear to represent separate conditions possibly linked to certain syndromes.     

Total Colonic Aganglionosis in Hirschsprung disease

Total Colonic Hirschsprung Disease (HD) can be challenging from a diagnostic and management standpoint and occurs in around 8% of cases of HD. Long term outcomes are difficult to compare due to variation in length of aganglionosis, chosen surgical techniques, and terminology utilized in the literature. In this review we highlight some of the management controversies and clinical challenges and emphasize future areas of suggested collaboration and research.