Nonfixation of an atretic colon predicts Hirschsprung's disease

PURPOSE: After noting the colon to be nonfixed and coiled in the pelvis of a patient with colonic atresia and total colonic Hirschsprung's disease, the authors sought to determine whether this colonic position might be predictive of aganglionosis in the atretic colon. METHODS: The authors reviewed all cases of colonic atresia treated in their institution over the past 2 decades with regard to colonic orientation and the presence of aganglionosis. RESULTS: We identified 9 patients with colonic atresia. Two of these patients, as well as one patient with ileal atresia, also had long-segment Hirschsprung's disease. All 3 of these patients had foreshortened nonfixed colons located predominantly in the pelvis. None of the other 6 patients with colonic atresia had this configuration. Reviewing 12 reported cases from other institutions of total colonic aganglionosis associated with atresia, 7 appear to have had a pelvic nonfixed colon; colonic orientation could not be determined from the remaining reports. The diagnosis of Hirschsprung's disease was not established in any case before repair of the atresia, and each patient required a secondary enterostomy. CONCLUSIONS: An early gestational atresia, occurring before secondary retroperitoneal fixation of the colon at approximately 11 weeks may result in interruption of caudal migration of enteric nerves manifesting as Hirschsprung's disease distal to the atresia. Moreover, the aganglionosis may be predicted by a foreshortened, nonfixed colon coiled in the pelvis. Thus, biopsy of the colon should be performed at initial exploration in all cases of atresia in which the colon is not properly fixated to avoid immediate or delayed anastomosis to an aganglionic colon.     

Hirschsprung's disease in an infant with colonic atresia and normal fixation of the distal colon

The coexistence of colonic atresia and Hirschsprung's disease presents a diagnostic and therapeutic challenge. Colonic atresia is quickly recognized, and the majority of patients are diverted shortly after birth. The diagnosis of coincident Hirschsprung's disease usually is made after anastomotic failure after restoration of intestinal continuity. A recent compilation of these patients has suggested that Hirschsprung's disease may be predicted on the basis of nonfixation of the colon distal to the atresia. However, we recently cared for an infant with transverse colonic atresia and total colonic aganglionosis associated with normal orientation and fixation of the distal colon.     

Diagnosis and treatment of Hirschsprung''s disease in Japan. An analysis of 1628 patients

A nationwide survey on Hirschsprung's disease was conducted to clarify the recent trends of diagnosis and treatment of Hirschsprung's disease seen in Japan from 1978 to 1982. A total number of 1628 cases were collected from 135 medical institutions. Estimated incidence of Hirschsprung's disease was 1/4697. In diagnosis, anorectal manometry was carried out in 64.7% of the patients and histochemistry in 28.7%. Barium enema with manometry was most frequently used in combination of the methods. A total of 48.7% of the patients were diagnosed in the first month of life. The overall rate of creation of colostomy was 61.3% in aganglionosis extended to the sigmoid colon. Retrorectal transanal pull-through was used most frequently at 57.4%, including Z-shaped anastomosis at 30.4%, then endorectal pull-through at 27.6% as the definitive operation. Considerably high incidence (12.1%-33.7%) of postoperative enterocolitis was noted after major operative procedures, but the mortality rate was low (1.8%-2.4%) except total colonic with or without small bowel aganglionosis. The large number of patients studied in the present survey reveals that there still is much room for improvement in the diagnosis and treatment of Hirschsprung's disease, especially in total colonic with or without small bowel aganglionosis.     

Pathophysiology of aganglionic colon segment: an experimental study on aganglionosis produced by a new method in the rat.

Experimental aganglionosis was produced successfully in a colonic segment proximal to the peritoneal reflection by intraluminal filling under tension of the colorectum of rats with 0.01% corrosive sublimate in normal saline solution. Where the length of aganglionic segment was more than 3 cm, ileus appeared and megacolon proximal to a narrow segment was observed. Histologically and histochemically, a total denervation state was observed in the aganglionic segment, in contrast to findings in narrow segments of Hirschsprung's disease, in which intramural extraneous nerves are known to be increased. The fact that a definite narrow segment like that seen in Hirschsprung's disease appeared at the portion of the colon in which experimental aganglionosis was produced indicates that a narrow colonic segment certainly can be produced without presence of any intramural extraneous nerves, although the possibility that the presence of such nerves may exaggerate the narrowing cannot be denied. The fact that the cases in which length of aganglionosis was less than 2.5 cm did not have an ileus suggests that there may be some contributing factors other than aganglionosis in the etiology of Hirschsprung's disease of ultrashort segment, if this entity of the disease really exists. Aperistalsis observed in experimental aganglionic segments and that observed in aganglionotic segments of Hirschsprung's disease seem to be based on a common main factor, i.e., absence of the nonadrenergic, noncholinergic nerves.     

Ultrashort Hirschsprung's disease: myth or reality

The term ultrashort Hirschsprung's disease has been used to define a spectrum of conditions with clinical presentation similar to Hirschsprung's disease but with presence of ganglion cells on rectal biopsy. In contrast to Hirschsprung's disease, there is no transition zone on barium enema. However, as in classical Hirschsprung's disease, there is no reflex internal sphincter relaxation on rectal manometry. We reviewed the presentation of five patients with chronic constipation who fulfilled the criteria for ultrashort Hirschsprung's disease. After positive anorectal manometry, despite the presence of ganglion cells on suction rectal biopsy, internal sphincter myomectomy was performed in four patients. Resolution of symptoms was noted in all operated patients. Normal ganglion cells were present throughout the entire length of all myomectomy specimens. There is controversy in the literature concerning the diagnosis of ultrashort Hirschsprung's disease. Most of the confusion concerns whether a short segment of aganglionosis proximal to the dentate line is permissible for the diagnosis of ultrashort Hirschsprung's disease and to what extent such aganglionosis is physiological. Perhaps it would be more accurate to define this entity by the presence of ganglion cells on rectal biopsy as well as the failure of the internal sphincter to relax on rectal manometry and to describe it as anorectal achalasia in severely constipated patients.     

Hirschsprung's disease: a possible cause of anastomotic failure following repair of intestinal atresia.

Despite several reported cases, the association of Hirschsprung's disease and intestinal atresia is not widely recognized. We describe three patients with jejunoileal atresia who all had a preoperative barium enema that failed to show a transition zone. All three patients developed an anastomotic leak of the atresia repair, and required a temporary diverting enterostomy. Two patients had total colonic Hirschsprung's disease and in one, the transition zone was in the midtransverse colon. Histological examination of the appendix at the time of repair may be helpful in patients with small intestinal atresia. In patients who develop an anastomotic breakdown, rectal biopsy should be performed to rule out Hirschsprung's disease.     

My early experience with Hirschsprung's disease

Prior to 1948, when the first distal colonic resection with preservation of continence was performed for Hirschsprung's disease, there was no clear understanding of the etiology of the disease. Early explanations for the cause of the disease included mechanical obstruction, "neurologic imbalance," and congenital malformation of the entire colon. No medical or surgical treatment had proved successful in treating the disease. It is generally assumed today that the absence of ganglion cells was widely known and accepted as the cause of Hirschsprung's disease prior to 1948 and that this led to the concept of distal colon dysfunction and formed the basis for the distal colonic resection. As a matter of fact, it played no role whatsoever in devising the successful operation. The rare absence of ganglion cells was widely held to be produced by the massive distention and chronic stasis in the megacolon and was considered of no pathologic significance. This report reviews the early work in developing the concept of a distal physiologic obstruction that led to a successful surgical treatment.     

Histochemical diagnosis of Hirschsprung's disease and 2 point rectal mucosal biopsies for selection of surgical treatment

In order to establish the diagnostic criteria of Hirschsprung's disease by Ach. E. staining of rectal mucosal biopsy, we analysed the specimen obtained from 110 infants with abdominal distension and constipation. We found the pattern of nerve fiber proliferation was not uniform even in patients with Hirschsprung's disease. The pattern was classified into 4 types. I. total layer type (Typical type), II. lamina propria mucosal type, III. lamina submucosal type, and IV. lamina propria mucosal and lamina submucosal type. In case of types II, III, IV which do not show a typical finding, detection of Meissner's ganglion cells is the most important factor for the diagnosis of Hirschsprung's disease. Since we confirmed that the Meissner's ganglion cells were always present at the level of just above to the dentate line of the rectum in the specimen of normal controls, we concluded that 5mm oral to the dentate line was the most appropriate position of the rectal mucosal biopsy for the diagnosis of Hirschsprung's disease including patients with ultrashort segment aganglionosis. Two points rectal mucosal biopsies, namely, the biopsies from the site of 5mm and 5 cm oral to the dentate line, was useful for selection of surgical treatment in patients with short segment aganglionosis.     

Ideal treatment for total colonic Hirschsprung's disease

Five children were treated for total colonic Hirschsprung's disease between 1982 and 1986. Three girls and two boys underwent total colectomy and straight ileoanal endorectal pull-through, with creation of a suprapelvic side-to-side anastomosis of 10 cm of cecum and ascending colon to ileum (Boley procedure). All patients have been followed for periods of greater than 1 year, and they have been free of any postoperative complication. Stool frequency on an unrestricted diet has been between one and five semiformed per day. Their growth and development have been excellent. An advantage of this procedure is excellent water absorption without the risks of mechanical problems encountered with a variety of pelvic pouch creations in the young growing child.     

Hirschsprung's disease discordant in monozygotic twins: a study of possible environmental factors in the production of colonic aganglionosis.

The occurrence of Hirschsprung's disease, with histologically verified colonic aganglionosis, in only 1 of 2 prematurely born and presumed identical (monozygotic) twins is reported. The occurrence of monozygotic twinning was supported by the observed sharing of a single and common placenta and by ABO and HLA identity of peripheral blood erythrocytes and leukocytes. The affected twin was of a slightly lower birth weight and experienced early respiratory distress, necrotizing enterocolotis, and more prolonged umbilical artery catheterization (no encountered in the unaffected twin). This, to the authors' knowledge, is the first reported occurrence of Hirschsprung's disease discordant in monozygotic twins. The literature relating to genetic and environmental factors in clinical and experimental colonic aganglionosis is reviewed and speculation is presented regarding the occurrence of colonic aganglionosis discordant in monozygotic twins as reported here.     

Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse)

We report a case of the rare concurrence of total colonic aganglionosis and central hypoventilation. The relevant literature regarding the association of these syndromes, the reversal of male to female predominance in total colonic aganglionosis v Hirschsprung's disease, their association with pheochromocytoma and neuroblastoma, and the possible etiologic role of cessation of neural crest cell migration, are discussed.     

Hirschsprung's disease. Evaluation of mortality and long-term function in 260 cases.

This report describes 260 patients treated for Hirschsprung's disease. There were 213 boys (82%) and 47 girls (18%). Age at diagnosis was younger than 30 days in 106 patients (41%), 1 month to 1 year in 90 patients (35%), and older than 1 year in 64 patients (25%). Diagnosis was achieved with barium enema and rectal biopsy. Aganglionosis involved the rectum or rectosigmoid in 174 patients (67%), the left colon in 38 patients (15%), and the proximal colon in 23 patients (9%); 25 patients (9%) had total colonic aganglionosis. Enterocolitis occurred in 47 cases (18%). Following an initial colostomy or ileostomy, a definitive pull-through procedure was performed in 247 patients (95%) (modified Duhamel in 185, Soave in 25, Swenson procedure in 15, and anomyectomy/sphincterotomy in 22); the overall survival rate was 93.8% (244 of 260 patients). An increased mortality was associated with Down syndrome, total colonic aganglionosis, and enterocolitis. Long-term follow-up (mean, 6 years 10 months) was available in 103 patients who underwent a Duhamel procedure. Sixty-seven (65%) had normal bowel function, 28 (27%) occasionally used enemas or stool softeners, and eight (8%) had severe constipation or soiling. Bowel habits improved with time and were considered normal in 58% of patients at less than 5 years of follow-up and in 88% of patients at more than 15 years of follow-up. The Duhamel operation is a very effective definitive procedure for Hirschsprung's disease. Long-term follow-up is an important component of patient care.     

Total intestinal aganglionosis

Total Intestinal Aganglionosis is a rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum. A neonate with this extreme form of Hirschsprung's disease is presented with a review of 12 previously reported cases. Smooth muscle strips from this infant's gastrointestinal tract demonstrated viable cholinergic receptors, absence of intrinsic neuronal innervation, and colonic contractile activity to the purported peptidergic neurotransmitter cholecystokinin. Four aspects of total intestinal aganglionosis are noteworthy: (1) one-third of patients presented between four and eight days of age after passing meconium on the first day of life; (2) at laparotomy, no intestinal distention, obstruction, or transition zone was evident; (3) hypertrophic nerve fibers seen in classic Hirschsprung's disease were absent in one-quarter of patients; and (4) a high incidence of affected siblings occurred in the previously reported cases. This form of Hirschsprung's disease may represent a distinct entity with autosomal recessive inheritance and significant risk for recurrence.     

An evaluation of the modified endorectal procedure for Hirschsprung's disease

During the past 4 yr, 60 patients with Hirschsprung's disease have been treated at our institution. Twenty-eight patients within this group have undergone a modified endorectal pull-through procedure. There are 18 males and 10 females in the series. There are 5 children with total colonic involvement, 3 patients with aganglionosis to the mid-transverse colon, and one child with Hirschsprung's disease extending to the distal jejunum. The associated anomalies have consisted of four cases of Down's syndrome, one of whom also has transposition of the great vessels. There has been no operative-related mortality or late mortality in our series. Two major complications (anastomotic leak following a colostomy closure and incorrect pathological diagnosis of aganglionic level) and five minor complications have occurred. The average follow-up period is 31.3 mo. The functional results postoperatively have been excellent. The 18 patients over the age of 3 yr are completely toilet-trained. The remaining patients are too young to be toilet-trained, but are continent in the sense that they do not soil between bowel movements. Because of the satisfying functional results in this series, we have now expanded our indications for this procedure to patients requiring total colectomy for ulcerative colitis and familial polyposis. During the past 2 yr, 8 patients with ulcerative colitis have undergone the endorectal pull-through together with a total colectomy.     

Hirschsprung's disease, a rare precipitating factor in neonatal perforated Meckel's diverticulum

Perforation of Meckel's diverticulum (MD) during the neonatal period may occur in the presence of distal colon obstruction. Herein, we describe a unique case of a 2-day-old infant that presented with pneumoperitoneum, in which a perforated MD was induced by distal intestinal obstruction secondary to total colonic aganglionosis. In the setting of neonatal perforated MD found intraoperatively, the determination of the possible precipitating etiology is necessary. The clinical history of delayed passage of meconium is emphasized, and either a rectal or colon biopsy is recommended intraoperatively to avoid overlooking the associated presence of Hirschsprung's disease.     

Distribution and localization of glial fibrillary acidic protein in colons affected by Hirschsprung's disease

The distribution and localization of glial fibrillary acidic (GFA) protein were examined by means of immunohistochemistry in normoganglionic, oligoganglionic, and aganglionic segments of colons from 25 patients with Hirschsprung's disease, including four cases of long segment aganglionosis. In normoganglionic segments, GFA protein-positive glial cells were densely distributed within the myenteric plexus, but sparse in the submucous plexus. Aganglionic segments were completely devoid of glial cells with GFA protein immunoreactivity, coinciding with the lack of enteric ganglia. Instead, GFA protein was found specifically in association with the hypertrophic nerve fasciculi and their branches, which were mainly located in the intermuscular zone and submucosal connective tissue in the distal aganglionic segment of diseased bowels. However, two types of short and long segment aganglionosis differed in the distribution pattern of GFA protein; the extrinsic nerve fasciculi in short segment disease extended toward the normoganglionic segment, but in long segment disease they did not reach this area. A moderate number of GFA protein-positive fasciculi were observed within the circular muscle layer of proximal aganglionic and oligoganglionic parts in short segment aganglionosis, while no immunoreactive fasciculi were encountered within the circular muscle layer of the corresponding parts in long segment aganglionosis. Immunohistochemistry for GFA protein can be of excellent diagnostic value for the aganglionic colon with Hirschsprung's disease, since GFA protein immunohistochemistry discloses exclusively extrinsic, hypertrophic nerve fasciculi, characteristic of the bowel in cases of Hirschsprung's disease.     

Jejunal perforation as an unusual presentation of total colonic aganglionosis in a neonate: A case report

IntroductionNeonatal intestinal perforation usually occurs at distal small bowel secondary to distal bowel obstruction. The aim of this report is to describe an unusual case of total colonic aganglionosis with an initial presentation of proximal jejunal perforation.Presentation of caseA male newborn presented with jejunal perforation on the fifth day of life and was treated by laparoscopic primary repair. Abdominal distention persisted postoperatively, and radiological examination revealed an obstruction near the terminal ileum. Laparotomy showed a transition zone 30-cm proximal to the ileocecal valve, and diverting ileostomy and appendiceal biopsy was performed. Permanent section demonstrated the complete absence of ganglion cells in the appendix and total colonic aganglionosis was strongly suspected.DiscussionContrary to the classic teaching, proximal bowel perforation can occur in case of far distal obstruction, and careful distal evaluation would direct more appropriate surgical treatment option.ConclusionsTotal colonic aganglionosis can present as a proximal bowel perforation. Careful distal evaluation can provide diagnostic clues in cases of proximal intestinal perforation. Appendiceal biopsy is a reliable tool for evaluating suspected total colonic aganglionosis, but multiple colonic and rectal biopsies should be obtained to confirm the diagnosis.     

Diseases of fatty appendices of the colon

Seventy-one patients with volvulus of fatty appendix of the colon (sigmoid colon--52 patients, caecum--12, ascending colon--5, vermicular appendix--2 patients) were treated. Volvulus of epiploic appendix was seen in 67.6% operated patients, inflammatory changes--in 28.1% (primary inflammation was diagnosed in 4.2% patients). Symptoms of fat metabolism disorders were detected in 44 patients. There are no specific symptoms. Diagnostic laparoscopy permitted to improve diagnosis of epiploic appendices diseases. Target surgical approach permitted to reduce rate of postoperative complications and to improve results of treatment.     

保留扩张结肠的腹腔镜辅助先天性巨结肠根治术

目的:总结保留扩张而不肥厚结肠的腹腔镜辅助手术治疗先天性巨结肠的疗效及经验。方法:15例先天性巨结肠患儿在腹腔镜辅助下于腹腔内游离病变结肠,保留扩张而不肥厚的结肠,经直肠将病变结肠拖出肛门外切除,将近端扩张而不肥厚的结肠断端与齿状线上直肠粘膜切缘处吻合。结果:15例患儿均顺利完成腹腔镜手术,无中转开腹。平均手术时间约2h,术中出血20～50ml。术后1～2d排气,术后第3天进食,7～9d出院。切除结肠组织病理示扩张但不肥厚或轻度肥厚的结肠含正常神经节细胞。随访6～12个月,患儿6个月后每日大便1～2次,无便秘复发、污粪、狭窄等。12例术后3～6个月钡灌肠复查示扩张的肠管恢复正常。结论:腹腔镜辅助施行保留扩张但不肥厚或扩张伴轻度肥厚结肠的巨结肠根治术,手术游离、切除结肠范围缩小、创伤减轻,更具有手术创伤小、康复快的优点。     

Current significance of meconium plug syndrome

Background

The significance of meconium plug syndrome is dependent on the underlying diagnosis. The incidence of pathologic finding, particularly Hirschsprung's disease, contributing to the presence of these plugs, has been debated. However, there are little recent data in the literature. Therefore, we reviewed our experience with meconium plugs as a cause of abdominal distension to evaluate the associated conditions and incidence of Hirschsprung's disease.

Methods

We reviewed the records of newborns with meconium plugs found in the distal colon on contrast enema from 1994 to 2007. Demographics, radiologic findings, histologic findings, operative findings, and clinical courses were reviewed.

Results

During the study period, 77 patients were identified. Mean gestational age was 37.4 weeks and birth weight, 2977 g. Hirschsprung's disease was found in 10 patients (13%). One had ultrashort segment disease and another had total colonic aganglionosis. Maternal diabetes was identified in 6 patients. No patients were diagnosed with cystic fibrosis, meconium ileus, malrotation, or intestinal atresia.

Conclusion

Meconium plugs found on contrast enema are associated with a 13% incidence of Hirschsprung's disease in our experience. Although all patients with plugs and persistent abnormal stooling patterns should prompt a rectal biopsy and genetic probe, the incidence of Hirschsprung's and cystic fibrosis may not be as high as previously reported.