Rectal Suction Biopsy Research Articles

The Incidence of Hirschsprung's Disease in Premature Infants and the Role of Suction Rectal Biopsy

The Incidence of Hirschsprung's Disease in Premature Infants and the Role of Suction Rectal Biopsy

Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter

Currarino syndrome with Hirschsprung disease (CS-HD) is extremely rare. We present the first family with CS-HD. Case 1: A 28-year-old woman was admitted with severe abdominal distension and dyspnea. She was diagnosed with anal stenosis, hemisacrum, anterior sacral meningocele (ASM), tethered cord (TC), and short-segment aganglionosis. She underwent the modified Duhamel operation after meningocele repair and cord detethering. A bicornuate uterus, bilateral ovarian dermoid cysts, and small rectal duplication were also noted intraoperatively. Case 2: The daughter of case 1 was admitted for abdominal distension and anal stenosis at the age of 17days. Studies revealed a hemisacrum, ASM, TC, presacral mass, atrial septal defect, polyp in the right nasal cavity, right vesicoureteral reflux, and short-segment aganglionosis. She underwent the modified Soave operation at the age of 1year and 4months after meningocele repair, cord detethering, and resection of the presacral mass (epidermoid cyst). In both cases, the aganglionic segments were confirmed by preoperative rectal suction biopsy and postoperative pathological examination on full-thickness rectal specimens. Some causal genes for Currarino syndrome (CS) and Hirschsprung disease (HD) are currently investigated. Thus far, 10 CS-HD cases have been reported, including 6 cases of familial CS. However, all the patients had sporadic HD. Recent reports suggest that anomalies of the enteric nerve system contribute to postoperative constipation in CS cases.

Variants of Hirschsprung disease

Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional intestinal obstruction. Intestinal neuronal dysplasia is histologically characterized by hyperganglionosis, giant ganglia, and ectopic ganglion cells. In most intestinal neuronal dysplasia cases, conservative treatments such as laxatives and enema are sufficient. Some patients may require internal sphincter myectomy. Patients with the diagnosis of isolated hypoganglionosis show decreased numbers of nerve cells, decreased plexus area, as well as increased distance between ganglia in rectal biopsies, and resection of the affected segment has been the treatment of choice. The diagnosis of internal anal sphincter achalasia is based on abnormal rectal manometry findings, whereas rectal suction biopsies display presence of ganglion cells as well as normal acetylcholinesterase activity. Internal anal sphincter achalasia is either treated by internal sphincter myectomy or botulinum toxin injection. Megacystis microcolon intestinal hypoperistalsis is a rare condition, and the most severe form of functional intestinal obstruction in the newborn. Megacystis microcolon intestinal hypoperistalsis is characterized by massive abdominal distension caused by a largely dilated nonobstructed bladder, microcolon, and decreased or absent intestinal peristalsis. Although the outcome has improved in recent years, survivors have to be either maintained by total parenteral nutrition or have undergone multivisceral transplant. This review article summarizes the current knowledge of the aforementioned entities of variant HD.

Rectal Suction Biopsy to Exclude the Diagnosis of Hirschsprung Disease

Hirschsprung disease (HD) is defined as the absence of ganglion cells in the Meissner and Auerbach plexuses. Diagnosis depends on demonstrating the absence of ganglion cells in rectal biopsy specimens. Rectal suction biopsy is widely employed as the method of choice in obtaining such specimens. Classically, the diagnosis was made until the 1990s by using the Multipurpose Suction Biopsy Kit, or Rubin Tube. This device was replaced by the Model SBT-100 Suction Biopsy Kit as the exclusive device used to procure rectal tissue. Because the suction devices are known to occasionally yield tissue that is insufficient, the present study was undertaken to determine the efficacy of using this technique to make or exclude the diagnosis of HD. The last 50 biopsy sessions using the Multipurpose Suction Biopsy Kit and the first 46 sessions using the Model SBT-100 were included for review. Both groups had similar yields (24%) of biopsy sessions with insufficient tissue to allow meaningful interpretation. The predictive value of rectal suction biopsy in excluding HD at the first biopsy session was 65%. We conclude that HD can be excluded with a single rectal suction biopsy 65% of the time. A second biopsy session will exclude the diagnosis in an additional 11% of patients. Both devices yield biopsies of comparable quality and are equally useful in excluding the diagnoses of HD.

Calretinin Immunohistochemistery: An Aid in the Diagnosis of Hirschsprung's Disease.

Definite diagnosis of Hirschsprung's disease (HD) is based on histopathological study, but there are limitations associated with standard histology and histochemistry in this regard. The aim of this study was to investigate calretinin immunostaining patterns in both ganglionic and aganglionic HD intestinal specimens and to compare them with control specimens. Specimens included 30 patients with histopathologic diagnosis of HD and 20 patients that underwent colectomy for other reasons (as control group). Eighty paraffin wax blocks of full thickness intestinal specimens (30 blocks of ganglionic segments, 30 blocks of aganglionic segments and 20 blocks of control group) were studied. Calretinin immunoreactivity and pattern of staining for ganglion cells (nuclear and cytoplasmic) and also nerve fibers in different layers of bowel were evaluated in IHC stained slides. There were positive immunostaining of nerve fibers in the lamina propria, submucosa and muscularis propria in control and patient group. There were also nuclear and cytoplasmic staining of ganglion cells in submucosa and muscularis propria in all specimens of both control group (100%) and ganglionic segments (100%). Calretinin immunoexpression of nerve fibers in muscularis propria of the aganglionic segments was negative in all but two cases (6.7%). This method had sensitivity of 93.3% and specificity of 100% for diagnosis of HD in full thickness specimens of intestinal wall. The positive predictive value was 100% and negative predictive value was 93.8%. Calretinin immunohistochemistry can be used on suction rectal biopsies as a reliable and adjunctive method to diagnose HD.

Comparison of posterior internal anal sphincter myectomy and intrasphincteric botulinum toxin injection for treatment of internal anal sphincter achalasia: a meta-analysis

Internal anal sphincter (IAS) achalasia is a clinical condition with presentation similar to Hirschsprung's disease, but with the presence of ganglion cells on rectal suction biopsy (RSB). The diagnosis is made by anorectal manometry (ARM), which demonstrates the absence of the rectosphincteric reflex on rectal balloon inflation. The recommended treatment of choice is posterior IAS myectomy. Recently, intrasphincteric botulinum toxin (Botox) injection has been effectively used for treatment of IAS achalasia. The aim of this meta-analysis was to compare the efficacy of posterior IAS myectomy with intrasphincteric Botox injection for treatment of IAS achalasia. A systematic literature search for relevant articles was conducted using the following databases: MEDLINE( ® ), EMBASE(®), ISI Web of Science(SM) and the Cochrane Library. A meta-analysis was performed with the studies where IAS achalasia was diagnosed based on the results of ARM and RSB. Odds ratio (OR) with 95% confidence intervals were calculated. Sixteen prospective and retrospective studies, published from 1973 to 2009, were identified. A total of 395 patients with IAS achalasia were included in this meta-analysis. Fifty-eight percent of patients underwent IAS myectomy and 42% Botox injection. Regular bowel movements were significantly more frequent after IAS myectomy (OR 0.53, [95% CI 0.29-0.99]; p=0.04). There was no significant difference in continued use of laxatives or rectal enemas (OR 0.92, [95% CI 0.34-2.53], p=0.89) and in overall complication rates between both procedures (OR 0.68, [95% CI 0.38-1.21]; p=0.19). Looking at specific complications, the rate of transient faecal incontinence was significantly higher after Botox injection (OR 0.07, [95% CI 0.01-0.54]; p<0.01). Constipation and soiling were not significantly different between both procedures (OR 0.66, [95% CI 0.30-1.48]; p=0.31 and OR 0.24, [95% CI 0.03-2.07]; p=0.25). The rate of non-response was significantly higher after Botox injection (OR 0.52, [95% CI 0.27-0.99]; p=0.04). Subsequent surgical treatment was significantly more frequent after Botox injection (OR 0.18, [95% CI 0.07-0.44]; p<0.0001). Short- and long-term improvements were significantly more frequent after IAS myectomy (OR 0.56, [95% CI 0.32-0.97]; p=0.04 and OR 0.25, [95% CI 0.15-0.41]; p<0.0001). This meta-analysis indicates that in patients with IAS achalasia, posterior IAS myectomy appears to be a more effective treatment option compared to intrasphincteric Botox injection. After Botox injection, the rate of transient faecal incontinence, non-response and subsequent surgical procedures were significantly higher compared to IAS myectomy.

Rectal Biopsy in Children with down Syndrome and Chronic Constipation: Hirschsprung Disease vs Non-Hirschsprung Disease

Hirschsprung disease (HD) is reported in patients with Down syndrome with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains >700 patients with Down syndrome. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histologic and histochemical features of HD. More challenging were findings in 5 of 17 patients, in whom ganglia coexisted with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal calretinin-positive nerve twigs in the lamina propria and muscularis mucosae. The clinical significance of these unexpected findings in suction rectal biopsy specimens that did not satisfy strict criteria for a tissue diagnosis of HD is unknown. We speculate that a minority of these patients have transition zone morphology or an incomplete/atypical form of HD. Further investigations may help resolve discrepancies that arise when suction rectal biopsy is used to investigate chronic constipation in Down syndrome.

Index of Suspicion * Case 1: Irritability and Signs of Peritonitis in a Neonate * Case 2: Red Eye, Excessive Tearing, Photophobia, Irritability, and Splenomegaly in an Infant * Case 3: 2-year-old Girl Who Has Cough, Right Pulmonary Abnormalities

* ALL: : acute lymphoblastic leukemia CT: : computed tomography IVC: : inferior vena cava NA: : neonatal appendicitis NEC: : necrotizing enterocolitis WBC: : white blood cell A 7-day-old boy born at term is brought to the emergency department by his foster mother for refusal to feed for ∼20 hours and increased crying, although he is intermittently consolable. When given his bottle, the infant starts to suck but then cries as though in pain. He has not vomited, and his last bowel movement was yesterday. The stool has been moderately well formed without blood or mucus, and wet diapers have continued. There is no history of respiratory symptoms, lethargy, rashes, or jaundice. The biological mother is a 27-year-old woman with a known history of previous drug abuse; she had received some prenatal care. This infant was born by scheduled cesarean delivery. Initial physical examination reveals a crying but consolable neonate. His temperature is 37.7°C, heart rate is 170 beats/minute, and respiratory rate is 56 breaths/minute; the remainder of his findings are normal. His complete blood count (white blood cell [WBC] 11.7 × 109/L, 78.5% neutrophils, 11.4% monocytes, 9.8% lymphocytes), serum concentrations of electrolytes and glucose, urinalysis, and cerebrospinal fluid studies are normal. Cultures are obtained. An abdominal radiograph is normal and abdominal ultrasonography reveals trace pelvic fluid. He is given a bolus of normal saline and is started on antibiotics to treat possible sepsis. A few hours after admission, repeat examination is concerning for inconsolability, poor suck reflex, and lethargy. His abdomen is distended, firm, and tender to palpation. Bowel sounds are normal. Further studies are performed that reveal the diagnosis. A previously healthy 10-month-old boy is seen for a 2-week history of an erythematous left eye with tearing. Earlier, he was diagnosed as having conjunctivitis at an urgent care clinic and was treated with a 10-day course of polymyxin B/trimethoprim eye drops without improvement. He has felt warm intermittently but has not had a …

Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum

AbstractCurrarino syndrome was first described as a triad by Guido Currarino, an American radiologist in 1981. It is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele.We represent a 3 year boy with refractory constipation from birth, which had been wrongly diagnosed and treated as Hirschsprung’s disease since early childhood. The patient underwent urgent colostomy because of water intoxication due to bowel irrigation, and following investigations (CT, MRI) revealed anorectal anomaly and presacral mass compatible with Curarrino’s syndrome.Definitive operation was done with perineal approach, posterior sagittal anorectoplasty, with interval colostomy closure 2 months after perineal operation. An uncomplicated postoperative recovery ensued. The patient’s bowel habits successfully returned to normal soon after the operation. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are rectal examination, sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of Currarino syndrome families, CT scan, magnetic resonance (MR) evaluation of patient spine and pelvis and suction rectal biopsies. If the mass is a meningocele, colostomy and neurosurgical exploration should precede anoplasty due to the risk of meningitis.

Technique of Laparoscopic Swenson Procedure for Short Segment Hirschsprung's Disease

Background: Several previous reports have demonstrated that the laparoscopic Swenson technique is a viable alternative to the open procedure and that it has several advantages, including shorter length of hospital stay, earlier return of bowel function, and, most importantly, fewer complications.1–3 Aim: A video demonstrating the technique of laparoscopic Swenson procedure. Case Report: A 6-month-old infant presents as a neonate with abdominal distention and failure to pass meconium. Rectal suction biopsies demonstrate evidence of Hirschsprung's disease, and further laparoscopic biopsies confirm short segment involvement. A primary laparoscopic Swenson procedure is performed at 6 months of age. Technique: A 4-port approach using a 10-mm umbilical port and three 5-mm ports (umbilical & right & left iliac fossa) are utilized. Intra-abdominal insufflation pressure is maintained at 10 mmHg. Once pneumoperitoneum is established, a 2-0 silk stay is passed through the anterior abdominal wall and the bladder fundus to allow adequate observation of the pelvic structures. Initially, posterior mobilization of the rectum is performed using hook diathermy and a posterior window is created which allows exploitation of the presacral plane. Further, dissection of the lateral and anterior aspects of the rectum is performed, taking care to observe and preserve both ureters and vas deferens. Dissection continues in an incremental fashion anteriorly and laterally down to the pelvic floor. The correct level of distal mobilization is ascertained with the assistance of a second surgeon applying perineal pressure. A harmonic scalpel is applied to ligate the mesenteric vessels and an Endo-GIA 5-mm stapler used to transect the sigmoid colon at the level of the ganglionated bowel. A second surgeon working from below assists in grasping and invaginating the distal aganglionic colorectal stump. An incision is made in the externalized colorectum ∼1 cm proximal to the dentate line and forceps passed through this incision to grasp the distal margin of the ganglionated bowel, which is delivered to the peritoneum. A full-thickness circumferential anastomosis to the invaginated rectum is then completed extracorporeally in conventional fashion. Results: Enteral diet is introduced on day 1 and discharge occurs on day 4. There are no intra- or postoperative complications, and at follow-up 17 months later the child remains well. Conclusion: The case highlights the technical aspects of a laparoscopic Swenson procedure. Advantages include excellent observation of the pelvic structures, safe dissection of the ureters, and vas and avoidance of injury to pelvic nerves. Medium-term follow-up is encouraging; however, long-term performance particularly relating to erectile and bowel function is yet to be established. No competing financial interests exist. Runtime of video: 5 mins

Adult Hirschsprung’s disease in Jamaica: operative treatment and outcome

This study reviewed the operative management and outcome of patients with adult Hirschsprung's disease treated at the University Hospital of the West Indies, Mona, Jamaica. The case notes for 11 patients with adult Hirschsprung's disease, treated operatively between January 1986 and December 2007, were reviewed and data on preoperative diagnosis, operative procedures and postoperative complications were retrieved. Diagnosis was by open rectal biopsy in nine patients and by rectal suction biopsy in two patients. The time taken for preoperative bowel preparation ranged from 10 to 35 days, and colostomy was required in three patients to facilitate bowel cleansing. The Soave and Swenson procedures were used in six and five patients, respectively, leading to anastomotic stricture in one patient treated using the Soave procedure and to leakage in two patients treated using the Swenson procedure. All procedures took longer than 300 min, and 300-800 ml of blood or plasma was transfused. Therapeutic procedures for adult Hirschsprung's disease may result in life-threatening anastamotic complications. A protective colostomy is recommended when Swenson's procedure is used.

Massive bleeding after rectal suction biopsy: uncommon and unexpected delayed onset

rectal suction biopsy is a safe and painless procedure commonly performed in pediatric surgical practice for the diagnosis of intestinal dysganglionosis. we report a 3.5-year-old boy who experienced massive delayed bleeding after a rectal suction biopsy. Detailed information regarding clinical features, onset, management, and outcome are provided. acute onset of massive bleeding occurred 4 days after a rectal suction biopsy was performed to rule out possible intestinal dysganglionosis. The complication was managed conservatively, but blood transfusion and hospitalization were required. No predisposing abnormalities were detected. massive bleeding after rectal suction biopsy is a well-known life-threatening complication. Nonetheless, such a delayed bleeding (up to 4 days after a rectal suction biopsy) has never been reported before. Parents should be made aware of this possibility and surgeons should be aware of this complication which can be scarcely predicted based on patient's and familial history.

Total Colonic Aganglionosis: Case Report, Practical Diagnostic Approach and Pitfalls

Hirschsprung disease remains a challenging diagnosis for many pathologists. The disease is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetylcholinesterase-positive nerve fibers. Hypertrophic nerve fibers are present in most but not all patients. Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung disease with clinical, histologic, and genetic differences and is even more difficult to diagnose and manage. This case illustrates some of the difficulties frequently faced by the pathologists dealing with total colonic aganglionosis. Suction rectal biopsy specimens often lack significant nerve hypertrophy and positive acetylcholinesterase staining, which aid in the diagnosis. Pathologists have to depend mainly on the lack of ganglion cells in adequate submucosa to establish the diagnosis. Transition zone is often long in total colonic aganglionosis and interpretation of frozen sections can be difficult. The presence of several uniformly distributed clusters of mature ganglion cells and lack of nerve hypertrophy are required to avoid connections at the transition zone.

Total colonic aganglionosis: case report, practical diagnostic approach and pitfalls.

Hirschsprung disease remains a challenging diagnosis for many pathologists. The disease is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetylcholinesterase-positive nerve fibers. Hypertrophic nerve fibers are present in most but not all patients. Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung disease with clinical, histologic, and genetic differences and is even more difficult to diagnose and manage. This case illustrates some of the difficulties frequently faced by the pathologists dealing with total colonic aganglionosis. Suction rectal biopsy specimens often lack significant nerve hypertrophy and positive acetylcholinesterase staining, which aid in the diagnosis. Pathologists have to depend mainly on the lack of ganglion cells in adequate submucosa to establish the diagnosis. Transition zone is often long in total colonic aganglionosis and interpretation of frozen sections can be difficult. The presence of several uniformly distributed clusters of mature ganglion cells and lack of nerve hypertrophy are required to avoid connections at the transition zone.

Nerve growth factor receptor immunohistochemistry has a limited additional value to diagnose Hirschsprung’s disease

The diagnosis of Hirschsprung's disease (HSCR) is based on the histopathological evaluation of rectal suction biopsies (RSB), using haematoxylin and eosin (H&E) stains and acetylcholinesterase (AChE) histochemistry. The use of different immunohistochemical markers, such as nerve growth factor receptor (NGFR), has been suggested to facilitate the diagnosis of HSCR. The aim of this study was to evaluate the addition of NGFR immunohistochemistry to diagnose HSCR. RSB from 23 HSCR patients and 16 patients investigated for, but not diagnosed with, HSCR were retrospectively reviewed. The histopathology report supported or did not support the diagnosis of HSCR. In patients with HSCR, the primary biopsies confirmed the diagnosis in 21 of 23 cases with H&E staining, in 16 of 23 cases with AChE histochemistry, and in 8 of 23 cases with NGFR immunohistochemistry. Due to inadequate biopsies or equivocal interpretation, the biopsies were repeated in seven of the patients with HSCR and two patients underwent biopsies a third time. In the 16 patients investigated for but not diagnosed with HSCR, the three tests were normal in all cases. We conclude that NGFR immunohistochemistry has limited additional value to diagnose HSCR.

The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group

ObjectiveGuidelines on histopathological techniques and reporting for adult and paediatric gastrointestinal neuromuscular pathology have been produced recently by an international working group (IWG). These addressed the important but relatively neglected...

Hirschsprung′s disease: Role of rectal suction biopsy - data on 216 specimens

Background:The diagnosis of Hirschsprung’s disease (HD) is dependent on the histological study of rectal ganglion cells, and an open rectal biopsy was the mainstay that required general anaesthesia (GA) and carried risk of postoperative rectal bleeding. Suction rectal biopsy later gained wide acceptance and became the choice as there is no requirement of GA and virtual absence of any complications.Materials and Methods:A retrospective review of the histological findings of 216 rectal suction biopsies studied from 2005 to 2009.Results:There were 143 male and 73 female children. 196 (90.7%) children were within 1 year of age. Among 216 rectal suction biopsies 181 (83.80%) were aganglionic, 27 (12.5%) were ganglionic and 8 (3.7%) were inadequate. Majority of patients were of less than 1 year of age (94.47%).Conclusions:The rectal suction biopsy is a bed side procedure, safe, cheap and time saving. There is high degree of accuracy, simplicity and absence of complications.

Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease

Diagnosis of Hirschsprung disease (HD) is quite entirely based on the histopathological analysis of suction rectal biopsies. This hematoxylin and eosin approach has some limitations, despite the help of acetylcholinesterase staining. The aim of this study was to assess the diagnostic value of calretinin immunochemistry as a simple and reliable method in the diagnosis of HD. A total of 131 initial rectal biopsies carried out for suspicion of HD in children were retrieved, and calretinin immunohistochemistry was carried out on paraffin-embedded biopsies. Diagnosis of HD was made when no staining was observed. The results were statistically analyzed in comparison with our standard method (histology and acetylcholinesterase staining). 130 biopsies were accurately diagnosed on the basis of the positivity or negativity of calretinin staining. The senior pathologists diagnosed all cases of HD with no false positives. Furthermore, 12 additional cases initially considered as doubtful for HD using the standard method, were accurately diagnosed using calretinin immunohistochemistry. The false negative was a case of HD with a calretinin-positive biopsy. We also demonstrate the ease of calretinin interpretation compared with acetylcholinesterase for the junior pathologist. Calretinin immunohistochemistry overcomes most of the difficulties encountered using the combination of histology and acetylcholinesterase staining, and detects almost all cases of HD with confidence, with no false positives. Thus, we demonstrate that calretinin is superior to acetylcholinesterase to complete histology and could advantageously substitute for acetylcholinesterase.

The Diagnostic Value of Barium Enema in Children and Infants Evaluated for Hirschsprung Disease; to Do or Not to Do?

Purpose: Compare the diagnostic value for barium enema to suction rectal biopsies in children based on different age groups. Methods: Retrospectively reviewed the records of all children who underwent both barium enema (BE) and suction or full thickness rectal biopsies (RB) at our institution between 2004 and 2008. Results: Total 77 patients were identified. Twenty one patient less than one year of age, Fifty one males (66.2%) and 26 females (33.8%) were part of study. For the patients over one year the age was ranging from 1 to 18 years with a mean age of 5 years. The indications were constipation and/or delayed passage of meconium. In the selected patients less than one year of age compared to over one year of age BE and RB were both normal in 57.2% and 55.3% respectively. In patients with abnormal BE, Hirschsprung disease was diagnosed in 19% and 1.8% respectively, and the RB was normal in 23.8% and 39.2% respectively. All children less than one year of age, with normal BE had no Hirschsprung disease on RB compared to 2/56 (3.7%) in older patients. Conclusion: In patients less than one year of age, the BE diagnostic yield for Hirschsprung disease was higher compared to older patients, but can be used as a useful non-invasive screening tool in all age groups, that in difference to the recommendations of the constipation guideline committee of the North American society for pediatric gastroenterology, hepatology and nutrition (NASPGHAN), as BE considered unnecessary beyond infancy.

Internal anal sphincter achalasia

Internal anal sphincter (IAS) achalasia is a clinical condition with presentation similar to Hirschsprung's disease, but with the presence of ganglion cells on rectal suction biopsy. The diagnosis is made by anorectal manometry, which demonstrates the absence of the rectosphincteric reflex on rectal balloon inflation. The IAS is regulated by several neurogenic mechanisms, and so its pathogenesis is thought to be multifactorial, including the absence of nitrergic innervations, defective innervation of the neuromuscular junction, and altered distribution of interstitial cells of Cajal. The recommended treatment of choice is posterior IAS myectomy. Recently, however, the use of intrasphincteric botulinum toxin has been used to treat this condition, but further long-term studies are needed to determine its effectiveness.