PURPOSE: The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung's disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung's disease. The aim of this study is to evaluate the clinical characteristics and proper treatment of BTNIN. MATERIALS AND METHODS: A retrospective review was made on the clinical data of 19 neonates who were treated for BTNIN between January 2008 and December 2011 at a single facility. RESULTS: Abdominal distension occurred in every patient (19/19). Other common symptoms included emesis (5/19), explosive defecation (5/19), and constipation (4/19). The vast majority of patients (15/19) experienced the onset of symptoms between 2 and 4 weeks of age. Radiograph findings from all of the patients were similar to Hirschsprung's disease. A barium study showed a transition zone in 33.4% (6/18) of the patients. However, rectal biopsy revealed ganglion cells in the distal rectum in 88.2% (15/17) of the patients, and anorectal manometry showed a normal rectoanal inhibitory reflex in 90% (9/10). All patients responded well to conservative treatment. Symptoms disappeared at the mean age of 4.9+/-1.0 months, and the abdominal radiographs normalized. CONCLUSION: BTNIN had an excellent outcome with conservative treatment, and must be differentiated from Hirschsprung's disease. A rectal biopsy and anorectal manometry were useful diagnostic tools in the differential diagnosis.
Female ; Hirschsprung Disease/diagnosis/pathology ; Humans ; Ileus/*diagnosis/pathology ; Infant, Newborn ; Male ; Rectum/pathology ; Retrospective Studies

OBJECTIVETo systematically summary the updated results about the pathogenesis of Hirschsprung's-associated enterocolitis (HAEC). Besides, we discussed the research key and direction based on these results.

DATA SOURCESOur data cited in this review were obtained mainly from PubMed from 1975 to 2015, with keywords "Hirschsprung enterocolitis", "Hirschsprung's enterocolitis", "Hirschsprung's-associated enterocolitis", "Hirschsprung-associated enterocolitis", "HAEC", and "EC".

STUDY SELECTIONArticles regarding the pathogenesis of HAEC were selected, and the articles mainly regarding the diagnosis, surgical approach, treatment, and follow-up were excluded.

RESULTSSeveral factors, mainly including mucus barrier, intestinal microbiota, and immune function, as well as some other factors such as genetic variations and surgical reasons, have been found to be related to the pathogenesis of HAEC. Changed quantity and barrier property of mucus, different composition of microbiota, and an abnormal immune state work together or separately trigger HAEC.

CONCLUSIONSThe maintenance of intestinal homeostasis is due to a well cooperation of microbiota, mucus barrier, and immune system. If any part presents abnormal, intestinal homeostasis will be broken. Meanwhile, for patients with Hirschsprung's disease or HAEC, dysfunction of these parts has been found. Thus, the happening of HAEC may be mainly attributed to the disorders of intestinal microbiota, mucus barrier, and immune system.

Animals ; Enterocolitis ; etiology ; pathology ; Hirschsprung Disease ; complications ; pathology ; Humans ; Intestines ; microbiology ; pathology

Hirschsprung's disease is one of the most common causes of intestinal obstruction in neonates and infants. The underlying pathology of this disease is the absence of the ganglion cells in both the myenteric (Auerbach's) plexus and the submucosal (Meissner's) plexus. Since Hirschsprung's report in 1886, there have been thousands of papers on Hirschsprung's disease but the cause of the absence of the ganglion cells has not been identified. Hirschsprung's disease can be successfully treated with the Swenson, the Duhamel, and the Soave operations even though the pathogenesis is unknown. With the recent progress of molecular biology and genetics, a more detailed approach to the pathogenesis of Hirschsprung's disease can be undertaken. In addition, there have been recent developments in the surgical approach. In this review, recent advances in surgery for Hirschsprung's disease are presented.
Ganglion Cysts ; Genetics ; Hirschsprung Disease* ; Humans ; Infant ; Infant, Newborn ; Intestinal Obstruction ; Molecular Biology ; Pathology

Neuronal intestinal dysplasia in pediatric patients has similar clinical symptoms and often similar radiologic findings to those of Hirschsprung's disease. Yet neuronal intestinal dysplasia shows hyperplasia of the myenteric plexus for the pathology, and it requires different treatment compared with Hirschsprung disease. This disease has been reported many times in Europe but, to date, only one case has been reported in the radiologic literatures in Korea. We report here on a case of neuronal intestinal dysplasia that involved the entire colon in a two-month-old boy, and we include the radiographic findings.
Colon ; Europe ; Hirschsprung Disease ; Humans ; Hyperplasia ; Infant* ; Korea ; Male ; Myenteric Plexus ; Neurons* ; Pathology

Neuronal intestinal dysplasia in pediatric patients has similar clinical symptoms and often similar radiologic findings to those of Hirschsprung's disease. Yet neuronal intestinal dysplasia shows hyperplasia of the myenteric plexus for the pathology, and it requires different treatment compared with Hirschsprung disease. This disease has been reported many times in Europe but, to date, only one case has been reported in the radiologic literatures in Korea. We report here on a case of neuronal intestinal dysplasia that involved the entire colon in a two-month-old boy, and we include the radiographic findings.
Colon ; Europe ; Hirschsprung Disease ; Humans ; Hyperplasia ; Infant* ; Korea ; Male ; Myenteric Plexus ; Neurons* ; Pathology

OBJECTIVEHirschsprung's disease (HD), one of the most common causes resulting in lower intestinal obstruction in children, is prone to be misdiagnosed or to be missed from diagnosis because of its atypical clinical symptoms and inconspicuous morphological findings by barium enema X-ray. Recently, this situation has been largely ameliorated by increased comprehension of anorectal kinetics and improvement of instrument for measurement of anorectal pressure. By now, anorectal manometry (ARMM) has been regarded as a routine means for functional assessment and diagnosis for anorectal disease. Nevertheless, the accuracy rate of diagnosis of HD in neonate by ARMM remains to be elucidated. In this study the clinical evaluation of anorectal manometry as an early diagnostic method for neonates with Hirschsprung's disease was appraised.

METHODSForty-two HD patients defined by pathological study of rectal tissue obtained via rectal mucous membrane biopsy or operation were recruited in this study. ARMM was performed in liquid transmission using PC polygraph high rate gastrointestinal dynamical detection system (PC Polygraf HR, CTD-synectics, Sweden), with 4-lumen catheter with which a small 5-cm-long balloon was connected at the terminus. All children were positioned on their left side or back during the procedure and the pressure transducers were placed in the mid-axillary line level. The results of ARMM performed before operation or biopsy were compared with the results of barium enema X-ray testing. The decrease of internal anal sphincter pressure as rectoanal inhibitory reflex (RAIR) was measured based on the fluctuation curve of pressure detected. HD was defined when no decrease of anal catheter pressure was detected after insufflation (RAIR positive), and suspected HD state was assessed with the presentation of incomplete relaxation or positive/negative results coexisted (RAIR abnormal) in canal.

RESULTSThirty patients (71.43%) were diagnosed as HD by ARMM including 18 patients who showed negative response to RAIR and 12 patients whose response was abnormal. While barium enema examinations were carried out in all the 45 patients, the results showed 5 HD patients and 14 suspected HD patients, giving an overall diagnostic accuracy of 45.24%. There were also 16 patients with positive ARMM response and negative barium enema findings together, and 5 patients with negative ARMM results and positive barium enema findings at the same time. There was a significant difference between the two diagnostic methods (chi(m)(2) = 4.76, P < 0.05).

CONCLUSIONAnorectal manometry seems to be a more reliable method for diagnosis of Hirschsprung's disease in neonate than barium enema X-ray. Because ARMM is a simple, safe and non-invasive method, it can be used as a screening test of choice in neonates with clinically suspected HD. But for final diagnosis, it is reasonable to combine ARMM with other diagnostic methods in HD patients.

Anal Canal ; physiopathology ; Barium Sulfate ; Enema ; Hirschsprung Disease ; diagnosis ; Humans ; Infant, Newborn ; Manometry ; Rectum ; pathology ; physiopathology

Intestinal neuronal dysplasia (IND) type B is a disease of the submucosal plexus of intestine manifesting chronic intestinal obstruction or severe chronic constipation. IND is one of intestinal dysganglionoses and clinically closely associated with Hirschsprung's disease. Until recently, it is not fully clear whether IND is a congenital malformation or an acquired secondary condition related to some gastrointestinal problems. However, recently published data and consensus reports have enhanced our understanding of the pathogenesis and management of IND. The aim of this paper was to review the current state of knowledge regarding the controversial issues of IND including the etiology, classification, diagnostic criteria, and available therapeutic intervention.
Child ; Colon/*innervation/radiography ; Constipation/etiology ; Enteric Nervous System/*abnormalities ; Ganglia/pathology ; Gastrointestinal Motility ; Hirschsprung Disease/pathology ; Humans ; Immunohistochemistry ; Intestinal Diseases/*diagnosis/pathology ; Intestinal Mucosa/pathology

OBJECTIVETo investigate the distribution of mast cells (MC) in colon tissue of Hirschsprung disease (HD) and explore the role of mast cells in the pathogenesis of HD.

METHODSForty-one cases of HD (male 23, female 18), age from 2 months to 15 years, and eight age-matched normal cases were enrolled in this study. The distribution of MC in all layers of colon was examined by immunohistochemistry with mouse antihuman mast cell tryptase monoclonal antibody.

RESULTSThe count of MC in all layers of colon aganglionic segments of HD was significantly higher as compared with colon ganglionic segments of HD and normal controls (21.47+/-3.59 vs 3.18+/-0.87, 2.75+/-0.51). The average optical density values(A) of MC in aganglionic and ganglionic segments significantly decreased as compared to normal control (0.38+/-0.10,0.31+/-0.11 vs 0.51+/-0.08).

CONCLUSIONMast cells may play an important role in the pathogenesis of HD.

Adolescent ; Child ; Child, Preschool ; Female ; Hirschsprung Disease ; metabolism ; pathology ; Humans ; Infant ; Intestinal Mucosa ; pathology ; Male ; Mast Cells ; cytology ; metabolism ; pathology ; Tryptases ; metabolism

A quantitative assessment of the density of the protein gene product 9.5 (PGP9.5), the neural cell adhesion molecule (NCAM), and the low-affinity nerve growth factor receptor (NGFR) expressing nerve fibers in the circular muscle layer in the colon was carried out by morphometric analyses from 13 patients with Hirschsprung's disease (HD). The difference in the nerve fiber density between the ganglionic and aganglionic segments was compared by calculating the ratio of the sum of the areas occupied by positively stained nerve fibers per unit area of the muscle after immunohistochemical staining on paraffin embedded tissue sections using computer software. There was an obvious difference in the density of the PGP9.5 stained nerve fibers between the ganglionic (0.0380 +/- 0.0171) and aganglionic segments (0.0143 +/- 0.01661). The NCAM-positive nerve fibers were fewer in number than those of both the PGP9.5-positive fibers and NCAM-positive fibers, which were also markedly lower in number in the aganglionic segment (0.0066 +/- 0.0076) than in the ganglionic segment (0.0230 +/- 0.0195). Immunostaining for low-affinity NGFR revealed much fainter staining in the ganglionic and aganglionic segment without a statistically significant difference in their density. Considering the fact that PGP9.5 is a very sensitive marker for nerve fibers, the results of this study reaffirm the innervation failure of the proper muscle in HD. The decreased NCAM expression level in the aganglionic segment appears to be caused not by the selective down-regulation of NCAM expression among the nerve fibers but by a markedly reduced number of nerve fibers.
Colon/*innervation ; Hirschsprung Disease/*pathology ; Human ; Muscle, Smooth/*innervation ; Nerve Fibers/*chemistry/pathology ; Neural Cell Adhesion Molecules/*analysis ; Receptor, Nerve Growth Factor/analysis ; Thiolester Hydrolases/*analysis

Rectal suction biopsy with acetylcholinesterase (AChE) histochemistry has gained increased acceptance as the means of definitely diagnosing Hirschsprung's disease (HD) as well as of excluding this diagnosis when evaluating children with low intestinal obstruction or chronic constipation since the report of Meier-Ruge et al. in 1972. But this AChE histochemical study has not been reported yet in Korea. During the 14-month period from April, 1991 through June, 1992, 37 children, aged 3 days to 17 years had rectal suction biopsies for the diagnosis or exclusion of HD. In this study, AChE histochemistry (N = 37) was compared with hematoxylin and eosin (H and E) staining of same suction biopsy specimens (N = 35) for diagnostic accuracy. The histochemical criterion used for the diagnosis of Hirschsprung's disease was that of Chow et al. (1977), i.e., the presence of many coarse discrete cholinergic fibers in the muscularis mucosae and in the immediately subjacent submucosa regardless of an infiltration of cholinergic fibers in the lamina propria. Of 13 biopsies from the patients with Hirschsprung's disease (N = 13), there were 12 positive reactions, and one false negative reaction in a neonate with total colonic aganglionosis. All biopsies from 24 unaffected children demonstrated negative reactions with no false positive reaction. In comparison, of the 35 specimens examined by H and E staining, ganglion cells were present in the submucosal Meissner's plexus only in 15 of these 24 unaffected children. In conclusion, a 97% diagnostic accuracy was achieved with AChE histochemistry compared with a 74% accuracy with H and E staining (P < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)
Acetylcholinesterase/*analysis ; Adolescent ; Biopsy/methods ; Child, Preschool ; Female ; Hirschsprung Disease/enzymology/*pathology ; Histocytochemistry ; Histological Techniques ; Humans ; Infant ; Infant, Newborn ; Male ; Predictive Value of Tests ; Rectum/enzymology/*pathology ; Suction