Postoperative Fecoflowmetric Analysis in Patients with Anorectal Malformation

Because conventional methods of evaluating anorectal function do not necessarily provide good correlations between investigative results and symptoms in patients who have undergone surgery for an anorectal malformation (ARM), we recently introduced feco-flowmetry (FFM) to simulate natural anorectal evacuation. The purpose of this study was to embody significant parameters to elucidate the dynamics of anorectal activity on FFM. The parameters of FFM were compared with those of manometry and Kelly's clinical score (KCS) in 24 patients who underwent surgery for an ARM. There were three fecoflow patterns, namely, block (B) type, segmental (S) type, and flat (F) type. The B-type or S-type patterns were seen in patients classified as "clinically good." There were close relationships between the fecoflow pattern and both the operative procedure and the KCS (P = 0.01 and 0.001, respectively). Maximum fecal stream flow rate (Fmax) precisely reflected the tolerance rate of intended normal saline solution in the colorectum (TR), the evacuative rate (ER), and KCS. Fmax > 45 ml/s or TR > 70% or ER > 50% was statistically regarded as the borderline of fecal continence. Thus, the fecoflow pattern might reflect the motor activity of the pelvic floor muscle. FFM provided quantiative and qualitative evaluations concerning anorectal motor activity in patients who had undergone surgery for an ARM.     

Patterns of postoperative enterocolitis in children with Hirschsprung's disease combined with hypoganglionosis

Objective

The relationship between postoperative enterocolitis (EC) and Hirschsprung's disease (HD) combined with hypoganglionosis (HYP) has not been thoroughly reported elsewhere. The aim of this study was to investigate the incidence of EC after operation in children with HD combined with HYP and to identify new strategies to prevent postoperative EC.

Methods

From 1998 to 2005, 97 children with HD underwent the modified Swenson's procedure in this institute. They were classified into 2 groups based on pathologic investigation as follows: group A contained 70 patients with HD and group B contained 27 patients with HD complicated with HYP. The mean follow-up time from the time of the operation was 3.4 years (range, 1.5-8 years). The incidence of postoperative EC and anorectal functions were evaluated and compared between these 2 groups.

Results

Eight cases (11.4%) in group A developed postoperative EC, whereas 11 (40.7%) in group B did so. The incidence of postoperative EC in group A was significantly lower than that in group B (P < .005). According to the Rintala scoring system, the percentage of patients with an excellent score in group A (85.7%) was significantly higher than that in group B (P < .05). The recurrence rate of constipation in group B was 14.8% (4/27), whereas it was 2.8% (2/70) in group A.

Conclusions

Postoperative EC is associated with retained proximal HYP, which suggests that HYP could be, at minimum, a predictive marker for this complication. Complete resection of HYP segment could potentially minimize the incidence of postoperative EC and alleviate the severity of EC.     

Gastroschisis with Hirschsprung's disease: a therapeutic dilemma

The authors report a case of a neonate with gastroschisis, which, after repair, was further complicated by the diagnosis of Hirschsprung's disease. The authors discuss the diagnostic and management dilemmas posed by the coexistence of these two conditions for the clinician.     

An approach to minimize postoperative enterocolitis in Hirschsprung's disease

Background/Purpose

Enterocolitis (EC) is a common and severe complication after pull-through for Hirschsprung's disease; its pathogenesis remains unclear, but the role of coexistent intestinal neuronal dysplasia (IND) in the proximal colon may be relevant. This study evaluated the relationship between postoperative EC and IND and assessed whether a surgical protocol including resection of coexistent IND could prevent postoperative EC.

Methods

Between June 1993 and June 2002, 36 patients with aganglionosis were submitted to definitive surgical treatment. There were 2 sequential sets of patients: group I (n = 17), in whom the resection was confined to the aganglionic colon, and group II (n = 19), who were additionally submitted to resection of the coexistent IND segment; excision was restricted to the hepatic flexure in long segmental IND. The prevalence of postoperative EC and anorectal function were evaluated and compared between the 2 groups.

Results

There was no mortality. Fifteen patients had isolated aganglionosis, and 21 presented with aganglionosis plus proximal IND. All 6 children who developed postoperative EC had coexistent IND. In group I, 9 patients had coexistent IND and 5 developed postoperative EC (5/17, 29%). In group II, 12 patients had coexistent IND but only 1 patient, with long segmental IND, developed postoperative EC (1/19, 5%). Among the patients with proximal IND, the prevalence of postoperative EC was 29%; but it was significantly lower in group II than in group I (1/12 or 8% vs 5/9 or 56%; P = .02). Anorectal function was excellent or good in more than 80% of the patients in both groups.

Conclusions

Postoperative EC was associated with retained proximal IND, suggesting that coexisting IND may be, at least, a predictive marker for this complication. Histochemical characterization of the proximal colon with no radical resection of the IND segment seems to be an effective and safe approach to minimize the prevalence of postoperative EC.     

Long-term clinical outcome in patients with Hirschsprung's disease and associated Down's syndrome

Background/Purpose

Down's syndrome (DS) is the most common chromosomal abnormality associated with Hirschsprung's disease (HD). The purpose of this study was to review the long-term clinical outcome in patients with HD and associated DS.

Methods

Between 1975 and 2003, 39 (15%) of the 259 patients with HD had been associated with DS. Follow-up was carried out by means of examination of patient's records and personal/telephone interviews with the patient's parents or guardians.

Results

Twenty-six (67%) patients presented in the newborn period and 13 (33%) after the neonatal period. Twenty-eight (72%) patients had rectosigmoid HD, 10 long segment, and 1 total colonic aganglionosis. Thirty-two patients had other associated anomalies, 24 of these having cardiac anomalies. Definitive pull-through operation was performed in 33 patients. Parents of 1 child refused surgical intervention and parents of 2 children decided against pull-through operation after colostomy. Three children died before pull through. Thirteen patients had one or more episodes of enterocolitis after pull-through operation. At the time of follow-up (6 months to 28 years), 3 patients were found to have reverted to stoma because of poor bowel control or recurrent enterocolitis. Of the remaining 30 patients, 3 were lost to follow-up and 4 were too young to be assessed for bowel control. Assessment of bowel function in 23 patients revealed normal control in 8 (4 of these soiled for 6-17 years after definitive surgery), soiling in 8, and constipation requiring enemas or laxatives in 7.

Conclusions

The vast majority of patients with HD associated with DS continue to have disturbances of bowel function after definitive pull-through operation.     

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome

Purpose

Mowat-Wilson syndrome (MWS) is a developmental disorder presenting with mental retardation, delayed motor development, and a wide spectrum of clinical features. Hirschsprung's disease (HD) is associated in almost 50% of cases. This report aims to analyze the course of HD and to evaluate the clinical outcomes of these patients.

Patients and methods

Between 1997 and 2007, 110 patients presenting with HD were diagnosed and managed in our institution. Five of them presented the association of HD and MWS. Their records were reviewed retrospectively.

Results

All of the 5 patients have a genetic disorder specific of MWS (nonsense mutation or deletion on SIP1 gene, locus 2q22). Two patients underwent transanal endorectal pull-through procedure for classic rectosigmoid HD. Three patients were operated on for total colonic aganglionosis using Duhamel procedure. The median follow-up was 4 (range, 0.3-7) years. Only one patient is doing well (rectosigmoid HD). Two patients have a stoma diversion for severe motility disorders. Of the 3 total colonic aganglionosis, one still has repeated episodes of obstruction requiring total parenteral nutrition (TPN). The 2 others still have repeated episodes of enterocolitis. All patients required a prolonged TPN (32.5 months in average).

Conclusion

Hirschsprung's disease associated with MWS is a severe condition. Even in case of short segment HD, patients can present motility disorder requiring a prolonged TPN. Physician and surgeon should be aware about the evolution of this rare condition.     

Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications.     

Role of transanal endorectal pull-through in complicated Hirschsprung's disease: experience in 18 patients

Background/Purpose

In Hirschsprung's disease (HD) redo pull-through (PT) is indicated for anastomotic complications and for persistent aganglionosis after previous definitive surgery. This study was undertaken to evaluate the role of transanal approach to redo PT procedure in the management of complicated cases of HD over the last 7 years.

Patients and Methods

Between November 1998 and September 2005, 225 patients with HD were operated using the transanal endorectal PT (TEPT) approach. Eighteen patients had a redo PT owing to persistent aganglionosis.The present study evaluates the role of TEPT approach in patients with persistent aganglionosis (n = 18). Three patients needed a colostomy (n = 2) or ileostomy (n = 1) before the final operation. All the 18 patients underwent transanal mobilization (TEPT) of the colon. Six patients required additional mobilization of the proximal colon (n = 4) and the ileum (n = 2) during the redo PT operation.

Results

Median follow-up was 43 months (range, 3-72 months). Sixteen patients have had a good outcome with stool pattern 1 to 4 times daily. One patient had obstructive symptoms for 4 months postoperatively but then settled. One patient has occasional soiling.

Conclusions

In this series, TEPT and posterior midline split of the muscle cuff were used with good results. This has the advantage of avoiding injury to the pelvic muscles and nerves. The TEPT approach is combined with transabdominal mobilization of the intestine depending on the length of the aganglionic segment. The outcome has been favorable, but long-term follow-up is necessary for full assessment of those patients.     

Increased incidence of medullary thyroid carcinoma in patients treated for Hirschsprung's disease

Background/Purpose

Mutations of the RET proto-oncogene are responsible for the development of inherited multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma (MTC). RET mutations are encountered in patients with Hirschsprung's disease (HD). We hypothesized that the incidence of MTC is increased in patients with HD.

Methods

Patients treated for HD at the Children's Hospital, University of Helsinki, during 1939 and 1986 were surveyed for cancer using the population-based countrywide Finnish Cancer Registry from 1967 to 2000. The number of observed cancer cases and that of person-years at risk were counted. The expected number of cancer cases was extrapolated from national cancer incidence rates. To calculate the standardized incidence ratios (SIRs), the observed number of cancer cases was divided by the expected number of cancer cases.

Results

One hundred fifty-six patients (132 males) with HD were identified. The mean length of patient follow-up was 30.9 years. Seven cases of cancer were observed (SIR, 3.5; 95% CI, 1.4-7.3). Two patients developed MTC (SIR, 550; 95% CI, 67-2000). The cases of MTC occurred in male patients at the ages of 34 and 37 years. No patient developed pheochromocytoma.

Conclusions

In this study, we report for the first time an increased risk of MTC occurring in patients treated for HD. The increased risk may be attributed to mutations of the RET proto-oncogene shared by MTC and HD. These findings warrant further studies concerning screening for MTC-type RET mutations in patients with HD.     

A comparative study of laparoscopy-assisted pull-through and open pull-through for Hirschsprung's disease with special reference to postoperative fecal continence

Aim

The objective of this study is to compare laparoscopy-assisted pull-through (LPT) and open pull-through (OPT) for Hirschsprung's disease with special reference to postoperative fecal continence.

Methods

Thirteen OPT patients (1991-1996) were reviewed retrospectively, and 22 LPT (1997-2002) were reviewed prospectively. A continence evaluation questionnaire (CEQ, max score = 10) assessing frequency of motions, severity of staining, severity of perianal erosions, anal shape, and requirement for medications was used. Severity of staining was graded as none = 2, occasional = 1.5, often = 1, always = 0.5, and soiling = 0, and severity of staining less than or equal to 1 was defined as moderate to severe incontinence. Presence of fever (peak and duration), raised white cell count (>10,000/μL), and C-reactive protein (>0.3 mg/dL) were used to assess surgical stress.

Results

Pull-through was endorectal in all cases. Mean age at pull-through was not statistically different between the 2 groups. Annual CEQ scores for 7 years after LPT were 6.3, 6.9, 7.3, 7.7, 8.3, 8.9, and 9.0, and after OPT were 5.6, 6.4, 7.0, 7.5, 7.8, 8.3, and 8.4. Although CEQ scores were higher after LPT throughout, the difference was not statistically significant. The incidence of moderate to severe incontinence after 4 years was 54% (7/13) for OPT and 23% (5/22) for LPT, and after 6 years, it was 23% (3/13) for OPT and 0% for LPT. Duration/peak of raised C-reactive protein and duration of fever were significantly less for LPT (P < .01).

Conclusion

Our results suggest that LPT is less invasive and may provide better postoperative bowel management compared with OPT.     

Neurocutaneous melanosis associated with Hirschsprung's disease in a male neonate

Hirschsprung's disease is an inherited disorder characterized by the absence of ganglion cells in the distal bowel. Neurocutaneous melanosis is a rare congenital syndrome characterized by proliferation of melanin-producing cells in the skin and leptomeninges. The authors described a newborn patient with neurocutaneous melanosis associated with Hirschsprung's disease. This male baby had congenital hydrocephalus, large and multiple pigmented skin nevi, and severe abdominal distension. He showed marked hydrocephalus at birth and underwent a ventriculo-peritoneal shunt at the age of 5 days. Investigations for gut motility disorders revealed typical findings consistent with Hirschsprung's disease involving the rectosigmoid colon. He was surgically treated for Hirschsprung's disease after transanal endorectal pull-through at the age of 7 months. After settlement of the ventriculo-peritoneal shunt, the transanal approach was of significant value for keeping the intraperitoneal catheter clean. The association of developmental disorders of melanocytes and enteric ganglia, both of which originated from the neural crest, suggested the presence of mutual pathogenetic factors in the patient.     

Redo-endorectal pull through following various pull through procedures in Hirschsprung's disease

Background The purpose of this study was to analyse the outcome of redo-endorectal pull through in Hirschsprung's disease following different original pull through procedures. In the past, redo-endorectal pull through was mainly performed following endorectal pull through, but not following the Duhamel procedure. We present the outcome of eight patients after redo-endorectal pull through, including five who underwent Duhamel pull through as original procedure. Materials and methods Between 2002 and 2004, eight patients underwent redo-endorectal pull through following the Duhamel procedure (five), Rehbein procedure (one) and endorectal pull through (two). A retrospective study was performed to evaluate the clinical course after redo-endorectal pull through, reviewing inpatients' and outpatients' charts and performing standardised interviews. Results Four of eight patients had normal stool pattern after redo-endorectal pull through. In two patients mild and in another two patients severe chronic constipation occurred after redo-surgery. Constipation-associated incontinence was noted in four patients, which is terminated after initiation of laxative treatment in three. Enterocolitis occurred in one patient and recurrent ileitis in another child with total colonic aganglionosis. No impairment of bladder function was observed after redo-endorectal pull through. Conclusion Redo-endorectal pull through proved to be a safe technique and feasible even after prior Duhamel pull through, resulting in good clinical outcome. Parts of this study have been presented at 123. Kongress der Deutschen Gesellschaft für Chirurgie, 2–5 Mai 2006, Berlin.     

Pseudomembranous enterocolitis and hemorrhagic necrotizing enterocolitis in Hirschsprung's disease

From 1977 to 1991, we encountered 67 patients with Hirschsprung's disease and 14 of them developed enterocolitis, with 3 cases being fatal. Enterocolitis occurred preoperatively in 12 infants, as well as after ileostomy in one and after a pull-through procedure in another. Seven infants had severe enterocolitis, including three with pseudomembranous enterocolitis and four with hemorrhagic necrotizing enterocolitis. Enterocolitis in Hirschsprung's disease mainly occurs due to intestinal obstruction and ischemia; however, in some cases, Clostridium difficile overgrowth and its toxin also appears to be related to severe pseudomembranous enterocolitis. In severe enterocolitis, antibiotics and enterostomy often prove to be ineffective, and thus an early resection of the affected bowel appears to be necessary. Moreover, when the aganglionic segment extends to the small bowel, severe enterocolitis tends to occur in the aganglionic intestine even after performing an enterostomy, and a resection of the aganglionic bowel is therefore recommended to allow for adequate lavage of the segment distal to the enterostomy site.     

Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease

Background/Purpose

Hirschsprung's disease (HSCR) is a congenital abnormality that can cause an intestinal obstruction. Although HSCR demonstrates a sex-modified polygenic inheritance with contributions from multiple genes, mutations in the RET gene are believed to be the major sign of susceptibility in the development of disease. The allele frequency of polymorphisms was mostly tested in the American and European population, but the data of an ethnically diverse nonwhite population are unclear.

Methods

All 21 exons and intron/exon boundaries of the RET gene in 18 Korean patients with sporadic HSCR and 84 normal individuals were screened using polymerase chain reaction amplification and direct sequencing.

Results

A total of 11 different nucleotide substitutions were identified. Of these, 2 were new missense mutations (C558Y, cysteine-rich domain; R844W, tyrosine kinase domain) and 9 previously described variants. This study also analyzed the haplotypes for the association between the variants identified with HSCR, but the estimated RET haplotypes did not show any disease risk.

Conclusions

This study identified additional mutations of RET gene, which represents the first comprehensive genetic dissection of sporadic HSCR disease in Koreans.     

The combination of Hirschsprung's disease and achalasia

The unusual combination of Hirschsprung's disease and Achalasia in one case treated by standard procedures led to the discussion about RET germ-line mutations and consequently to the speculation about higher risk for multiple endocrine neoplasia syndrome type 2-related tumors. Although a mutation could be excluded by sequence analysis in this case, the correlation of these specific diseases affords additive investigations to make sure that no further prophylactic procedures were necessary.     

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.     

Total colonic Hirschsprung's disease: a 28-year experience

Purpose

The aim of this study was to review outcomes after surgical treatment of total colonic Hirschsprung's disease (TCH).

Methods

Twenty-five records of patients with TCH treated between 1974 and 2002 were reviewed. Follow-up data were collected using a standardized questionnaire. Objective functional outcome was assessed using a scoring system.

Results

Twenty patients had aganglionosis of the colon and distal ileum, 5 of whom had a more extensive condition. One of these 5 patients underwent an endorectal pull-through (ERPT), 1 underwent intestinal transplantation, and 3 died. Four of the remaining 20 patients underwent a primary ERPT, 16 received a stoma as neonates followed by ERPT in 12, and a Martin-Duhamel procedure or Swenson's operation in 3 (median age, 10.5 months); 1 remains with an ostomy. Postoperative complications included enterocolitis (55%), anal stricture (25%), and perineal excoriation (20%). Mean follow-up were 17.5 years (±11.1 years). Eighty-nine percent were free of recurrent enterocolitis. Frequency of bowel movements is 1 to 5 per day in 82% of the patients, 18% have 6 or more bowel movements per day. Occasional soiling is noted in 40% (one third of those requiring nighttime diapers). Overall functional outcome was good in 83%. Those patients with the longest follow-up periods had the best stooling scores (P = .04).

Conclusions

Surgical treatment of TCH is associated with a number of complications including recurrent enterocolitis and anal strictures. Long-term outcome is quite favorable.     

Clinical features of Hirschsprung's disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan

Purpose

To identify the clinical features in diagnosis and treatment of Hirschsprung's disease (HD) associated with Down syndrome (DS), the authors retrospectively analyzed data for patients with DS from the past 3 nationwide surveys in Japan. This survey was already approved by the Japanese Society of Pediatric Surgeons.

Methods

Patient data were collected in 3 phases—phase I (1978-1982), n = 47; phase II (1988-1992), n = 79; and phase III (1998-2002), n = 90. In total, data on 216 patients (5.6%) of 3852 were collected and analyzed.

Results

The incidence of DS in patients with HD was 2.9%, 7.1%, and 8.2% in phases I, II, and III, respectively, with a corresponding male/female ratio of 5:1, 2.4:1, and 5:1. The ratio of the extent of aganglionosis was nearly consistent across all phases. In phases I, II, and III, the incidence of total colonic aganglionosis was 2.1%, 0%, and 2.2%; and that of cardiovascular anomalies, 36.1%, 45.6%, and 55.6%; and that of preoperative enterocolitis, 31.0%, 26.6%, and 24.4%. The 2 most common surgical procedures were the Soave procedure, including transanal endorectal pull-through, and Duhamel procedure including Z-shaped anastomosis. The mortality rate decreased over time, from 26.1% in phase I to 11.4% in phase II and 7.8% in phase III. Almost all mortality cases were associated with cardiovascular anomalies: 54.5%, 62.5%, and 85.7% in phases I, II, and III, respectively.

Conclusions

The incidence of HD with DS has increased over time. The number of male patients and cardiac anomalies has also increased in the last 10 years. Total colonic aganglionosis was rare. A marked decrease in the overall mortality rate was observed.     

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