Rectal Suction Biopsy Research Articles

Diagnostic Criteria of Pediatric Intestinal Myopathies.

The authors aim to identify criteria for the diagnosis of intestinal visceral myopathy (IVM); results were compared with ultrastructural studies. Six IVM patients and 7 pediatric control cases (without gastrointestinal diseases) were studied. One case was a typical megacystis-microcolon-intestinal hypoperistalsis syndrome. The diagnostic path included: rectal suction biopsy, one-trocar transumbilical laparoscopic intestinal full-thickness biopsy technique. Pathological analysis included anti-alpha smooth muscle actin staining, and US study of intestinal biopsies. IVM histological examination demonstrated thinning of longitudinal muscle layer. The ratio of circular/longitudinal thickness was evaluated in all samples; in cases, this ratio presented as a mean value of 2.91, and in controls, a mean value of 1.472 (P = 0.0002). Ultrastructural diagnosis revealed variable myofibrils density in smooth muscle cells, irregularity of sarcolemma membranes, interstitial fibrosis, and myofiber disarray. The authors concluded that in IVM, circular/longitudinal thickness ratio and alpha smooth muscle actin staining can be used as significant tools to address the diagnosis.

Hirschsprung Disease beyond Infancy.

Hirschsprung disease (HD) is a common cause of neonatal intestinal obstruction in which a variable segment of the distal intestinal tract lacks the normal enteric nervous system elements. Affected individuals present with varying degrees of obstructive symptoms, but today most patients are diagnosed within the first several months of life owing to the well-recognized symptoms and the ease of making the diagnosis by way of the bedside suction rectal biopsy. Thus, for the adult general or colorectal surgeon, the vast majority of patients who present for evaluation will have already undergone surgical treatment within the first year of life by a pediatric surgeon. Despite several safe operative interventions to treat patients with HD, the long-term results are far from perfect. These patients may reach adult life with ongoing defecation disorders that require a systematic evaluation by a multidisciplinary group that should be led by a surgeon with a thorough knowledge of HD operations and the potential problems. The evaluation of these patients will form the basis for the majority of this review-however, some patients manage to escape diagnosis beyond the infant and childhood period-and a section herein will briefly address the case of an older patient who is suspected of having HD.

Development of Nerve Fibre Diameter in Young Infants With Hirschsprung Disease.

Finding thickened nerve fibres is one of the key elements in the diagnosis of Hirschsprung disease (HD); however, its value at different ages remains uncertain. Nerve fibre diameters <40 μm can be observed in infants younger than 8 weeks, despite the presence of HD. The aim of this study was to identify a change in maximum nerve fibre diameter in HD patients, measured before and after 8 weeks of age. Nerve fibre diameter was retrospectively evaluated in tissue of 20 infants treated for definite HD. Rectal suction biopsies (RSBs) obtained within the first 8 weeks of life (T1) and resected bowel obtained during primary surgery at an average of 24.7 weeks (T2), were assessed. The 2 thickest nerve fibre diameter recordings at T1 and T2 were compared in each subject, to examine changes in nerve trunk diameter with increasing age. In 13 cases (65%), nerve fibre diameters were ≥40 μm at T1 and T2. Six subjects (30%) had nerve trunk diameters <40 μm at T1; however, they experienced diameter increases to ≥40 μm by T2. Thus, at T2, 19 subjects (95%) had diameter recordings ≥40 μm. Nerve fibre diameter in the remaining case (5%) stayed consistent at <40 μm at T1 and T2, despite the presence of HD. After the first 8 weeks of life, nerve fibre measurements appear to be associated with HD. Measuring the 2 thickest nerve fibres can support typical HD diagnosis criteria beyond 8 weeks of age, but is not superior to histopathological confirmation of aganglionosis.

Full-thickness rectal biopsy in children suspicious for Hirschsprung's disease is safe and yields a low number of insufficient biopsies

IntroductionThe diagnosis of Hirschsprung's disease (HD) relies on the histological demonstration of aganglionosis in the bowel wall. Biopsies may be obtained by rectal suction biopsy (RSB) or by transanal full-thickness excision biopsy (FTB). The objective of the present study was to evaluate the frequency of complications and inconclusive biopsies after FTB in children referred with suspicion of HD. The secondary objective was to calculate the frequency of proven aganglionosis. MethodsA retrospective chart review was performed of all patients under the age of 16years who underwent transanal FTB during the time period of 2008–2014. ResultsA total of 555 patients were included in the review. Inconclusive biopsies were found at the primary biopsy in 35 patients (5.9%). Aganglionosis was found in 12% of the cases. The complication rate was 6.6% (39 patients), 85% of which were classified as a Clavien–Dindo I–II and 15% were classified as Clavien–Dindo III. ConclusionsIn this retrospective evaluation of FTB for the diagnosis of HD, the frequency of inconclusive biopsies at primary attempt was low and the complication rate was relatively high. However, most were minor complications. Level of evidenceIII

Diagnostic Role of Anal Sphincter Relaxation Integral in High-Resolution Anorectal Manometry for Hirschsprung Disease in Infants

To investigate the possible diagnostic role of anal sphincter relaxation integral (ASRI) in high-resolution anorectal manometry (HRAM) for Hirschsprung disease. We performed conventional anorectal manometry (ARM) in 24 infants (8 with Hirschsprung disease and 16 without Hirschsprung disease) and HRAM in another 21 infants (9 with Hirschsprung disease and 12 without Hirschsprung disease) before and after October 2014. All infants underwent rectal suction biopsy for confirmation of Hirschsprung disease. We quantified rectoanal inhibitory reflex (RAIR) adequacy by calculating the ASRI in HRAM study at pressure cutoffs of less than 10, 15, and 20 mm Hg (ASRI10, ASRI15, and ASRI20, respectively) and investigated the diagnostic utility. Patients with Hirschsprung disease who underwent HRAM had significantly lower ASRI10, ASRI15, and ASRI20 values than did infants without Hirschsprung disease (P = .0002, .0002, and .0003, respectively), indicating significant difference in internal anal sphincter relaxation during RAIR test between these 2 groups. ASRI10 exhibited a greater diagnostic accuracy, area under the curve, sensitivity, and specificity than did ASRI15 and ASRI20 for Hirschsprung disease. Moreover, the diagnostic accuracy of HRAM for Hirschsprung disease based on ASRI10 <7 mm Hg.s.cm was significantly greater than that of conventional ARM (P = .02). ASRI10 may be indicative of the adequacy of RAIR by HRAM in infants, thus assisting the diagnosis of Hirschsprung disease. The diagnostic accuracy of HRAM (based on the ASRI10 value) is greater than that of conventional ARM for Hirschsprung disease. ASRI10 may be used in an automatic HRAM analysis system for the diagnosis of anorectal motility disorders.

EMR is superior to rectal suction biopsy for analysis of enteric ganglia in constipation and dysmotility

Patients with chronic constipation or motility disorders may be referred for rectal suction biopsy (RSB) to rule out Hirschsprung's disease (HD). RSB may not be successful beyond infancy because of the increased thickness of the rectal mucosa. EMR could improve the diagnostic yield for HD when compared with traditional RSB because larger and deeper samples are acquired for analysis. In this prospective, single-center study, patients referred for RSB were offered enrollment for concurrent EMR. Specimens were analyzed pathologically for size, submucosal ganglionic tissue, and acetylcholinesterase or calretinin staining. Biopsy results were compared with transit studies, anorectal manometry, and constipation severity through validated questionnaires. Seventeen patients (2 male, 15 female; mean age, 35.8 years; range, 22-61 years) were enrolled in the study from 2008 to 2014. All patients underwent anorectal manometry (88% with anorectal dysfunction, 68% with outlet obstruction) and transit studies (41% with delayed transit). There were no reports of adverse events from the RSB and EMR procedures. The RSB sample volumes were significantly lower than the EMR sample volumes (0.023 cm3 vs 0.26 cm3, P= .001). There was diagnostic tissue for submucosal visualization by RSB in 53% (9/17) of cases compared with 100% (17/17) with EMR (P= .003). No cases of HD were diagnosed by RSB; one patient had rare ganglions observed by EMR. EMR provides greater tissue volume and can improve the characterization of ganglion cells in rectal tissue compared with RSB in patients with moderate to severe constipation with suspected HD.

Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation

We describe a term born boy of non-consanguineous Swiss parents with tetrahydrobiopterine (BH4)-responsive Phenylketonuria (PKU) and Hirschsprung disease with unusual neonatal presentation. The child presented with floppiness, irritability, recurrent bilious vomiting and failure to pass meconium until 32 hours after birth, resulting in the clinical suspicion of an intoxication-type metabolic disease such as maple syrup urine disease (MSUD). Although the slightly elevated branched-chain amino acids in newborn screening on the fourth day of life initially supported the clinical suspicion of MSUD, the elevated Phenylalanine (Phe) of 650 µmol/L, low Tyrosine (Tyr) of 30 µmol/L, and a Phe/Tyr ratio of 22, led to the diagnosis of PKU. BH4-testing resulted in a significant decrease of Phe from 1011 to 437 µmol/L within 24 h. Urinary pterins and dihydropteridine reductase (DHPR) activity were normal, supporting the diagnosis of BH4-responsive PKU. Dietary restriction of Phe was initiated immediately, but oral feeding turned out to be difficult because of gastrointestinal symptoms. Intestinal motility disorder was suspected due to distended abdomen, obstructive symptoms and radiological findings with dilated intestinal loops and lack of intestinal gas in the anorectal region. Hirschsprung disease was confirmed by rectal suction biopsies and treated by a laparoscopically-assisted transanal pull-through (de la Torre) procedure. The boy is additionally compound heterozygous for two mutations in the phenylalanine hydroxylase (PAH) gene, which confirmed BH4-responsive PKU. It is the first case to be described in the literature of the comorbidity of PKU and Hirschsprung disease.

Rectal Suction Biopsy in Patients With Previous Anorectal Surgery for Hirschsprung Disease.

The aim of the study was to determine rates of histologically positive, negative, and inconclusive rectal suction biopsies in post-pull-through patients with Hirschsprung disease evaluated for potential residual aganglionosis at our institution and to determine how patients were managed after a post-pull-through rectal suction biopsy. Thirty-nine post-pull-through suction biopsies from our institution were reviewed. Samples, stained with H&E and often acetylcholinesterase and/or calretinin, were categorized as "histologically" positive, negative, or inconclusive for aganglionosis. Subsequent clinical action was categorized as bowel resection, no further procedure, or rebiopsy. Agreement between histologic diagnosis and clinical action was assessed. Histologically, all biopsies were inconclusive (46%) or negative (54%) for residual aganglionosis. Postbiopsy clinical action included redo pull-through (5%), no further procedure (59%), or rebiopsy (36%). Rebiopsy was sought in 2 of 21 histologically negative patients and in only 12 of 18 histologically indeterminate patients. Eventual redo pull-through procedures in 6 of 39 patients showed 4 with residual aganglionosis and 2 with abnormalities suggesting residual "transition zone." Our findings show that suction biopsy after pull-through was frequently histologically indeterminate and never definitively positive for residual aganglionosis. When biopsy was histologically indeterminate, rebiopsy was pursued less commonly than may be expected. Our findings emphasize that suction biopsy examination is not a "criterion standard" for residual aganglionosis, but instead a component of a diagnosis that ultimately combines clinicopathologic factors, the constellation of which can sometimes spare patients from a more invasive full-thickness biopsy.

Hirschsprung’s Disease: How to Prevent Enterocolitis With Rectal Irrigations

Abstract Hirschsprung’s disease is a condition where intestinal motility is compromised because of the absence of ganglion cells in the submucosal and myenteric plexus. A suction rectal biopsy is the definitive way to diagnose Hirschsprung’s disease. Enterocolitis is an inflammation of the small intestines and colon, which can be caused by bacterial overgrowth. Rectal irrigations are performed to help evacuate stool and gas from the small intestines and colon. It is important to perform adequate rectal irrigations on patients to prevent enterocolitis. Because of the importance of preventing enterocolitis, appropriate education is needed on Hirschsprung’s disease and enterocolitis and how to perform rectal irrigations effectively. A pilot study of 210 Neonatal Intensive Care Unit registered nurses was conducted to give education via poster presentation to deliver information on Hirschsprung’s disease and how to prevent enterocolitis with rectal irrigations. A pretest was administered before viewing the educational material. The test contained three questions on the topic. The poster was reviewed, and the questions were repeated utilizing a posttest to evaluate retention. Of the 210 Neonatal Intensive Care Unit registered nurses evaluated, there was an overall improvement on the three areas measured. The rates varied with each question. There was a 4.8% increase with Question 1, a 1.4% increase with Question 2, and a 10% increase with Question 3. These results showed an overall retention of the education provided. This was an effective way to educate a large group of nurses who provide bedside care to neonates with Hirschsprung’s disease. With this education, the nurses are better equipped to perform successful irrigations, thereby preventing enterocolitis.

Sa1634 - Rectal Endoscopic Mucosal Resection is Superior to Rectal Suction Biopsy for Analysis of Enteric Ganglia in Constipation and GI Dysmotility

Sa1634 - Rectal Endoscopic Mucosal Resection is Superior to Rectal Suction Biopsy for Analysis of Enteric Ganglia in Constipation and GI Dysmotility

Rectal suction biopsy with calretinin immunohistochemistry in patients suspected with residual aganglionosis after operation for Hirschsprung disease

IntroductionThis study investigates the use of rectal suction biopsy (RSB) with calretinin immunohistochemical staining (CIS) in patients suspected of having abnormally innervated bowel after pull through operation for Hirschsprung disease (HD). MethodThis study was conducted in Children's Hospital 2, Ho Chi Minh City from January 2015 through June 2016. Patients suspected with abnormally innervated bowel after pull through operation for HD were submitted for a RSB with CIS. Following histological results, the patients underwent an appropriate treatment (redo pull through operation or non-operative medical management) and followed up at least 6 months to evaluate their outcomes. ResultsTen patients were enrolled in our study. The median age was 5.6 (range 1.4–20) years. The diagnosis of normally innervated bowel was made in five patients by showing positive reactivity of CIS on RSB, whereas five others were diagnosed with abnormally innervated bowel. Final diagnosis of the five latter patients was confirmed by analyses of the resected bowel after a redo pull through operation (including 4 cases with residual aganglionosis and one case with transition zone bowel). ConclusionsRSB with CIS is a reliable and simple method for diagnosis of abnormally innervated bowel after pull through operation for HD. Level of evidenceIII Type of studyStudy of diagnostic test (evaluate the effectiveness of a diagnostic test or outcome assessment).

Acetylcholinesterase 活性定量法を用いた Hirschsprung 病の検討

Acetylcholinesterase 活性定量法を用いた Hirschsprung 病の検討

Spectrum of Clinicopathological Deviations in Long-Segment Hirschsprung Disease Compared With Short-Segment Hirschsprung Disease: A Single-Institution Study.

Hirschsprung disease (HSCR) is a congenital disorder characterized by intestinal aganglionosis leading to pseudoobstruction. The majority of cases are limited to the rectum or rectosigmoid (S-HSCR). A variably longer segment can be affected (L-HSCR), which may show many deviations from S-HSCR. We retrospectively reviewed 48 clinicopathologically confirmed total cases of HSCR at a single institution in a 21-year period to identify L-HSCR cases and determine their deviations from known features of S-HSCR. Eight L-HSCR cases were found where aganglionosis extended to the terminal ileum (7/8) or to the splenic flexure (1/8). L-HSCR lacked male preponderance and was in contrast more common in females (6/8). Associated anomalies included congenital heart disease (2) and neonatal hypothyroidism (1), previously underreported associations. The clinical diagnosis of L-HSCR was often delayed (average age at diagnosis 13 days) and the diagnosis was more often made operatively (5/8) rather than on rectal suction biopsy (3/8). Histologically, apart from aganglionosis, neural hyperplasia was either absent or focal, compounding the diagnostic difficulty. Although the number of cases in our study was limited due to the rarity of L-HSCR, this study still highlights the spectrum of deviations of L-HSCR from known clinicopathological features of S-HSCR.

Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease.

Hirschsprung disease (HD) is a congenital malformation resulting from the lack of migration of ganglion cells in the colon. The absence of ganglion cells in rectal suction biopsies aids in diagnosis, but evaluation of these small biopsies can be difficult. In this study, we compare the microtubule-associated protein-2 (MAP-2), calretinin, and peripherin immunohistochemical stains in 237 selected biopsies performed to rule out HD. By H&E stain, a total of 78 biopsies had ganglion cells, whereas 83 biopsies had no ganglion cells, and an additional 76 biopsies were equivocal for ganglion cells. Of the 78 biopsies with ganglion cells, MAP-2 was positive in 73 (94%), calretinin in 76 (97%), and peripherin in 78 (100%). Of the 83 biopsies with no ganglion cells, calretinin and peripherin highlighted nerve fibrils and ganglion cells, respectively, in 3 biopsies, whereas MAP-2 was positive in only 1 biopsy. Of the 76 biopsies equivocal for ganglion cells, 16 cases were positive by all 3 stains, an additional case by both calretinin and peripherin, and 2 cases by peripherin only. All of the newly positive biopsies were from patients without HD. This study demonstrates that peripherin is superior in helping to rule out HD in these small biopsies, highlighting ganglion cells in virtually all cases with ganglion cells, whereas MAP-2 and calretinin are less sensitive for identification of ganglion cells and nerve fibrils, respectively. In patients with HD, a panel using calretinin and peripherin with or without MAP-2 may be most helpful in identifying transition zones.

Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung's disease

BackgroundThe study investigates the diagnostic value of calretinin immunohistochemical staining (CIS) on rectal suction biopsies (RSB) in Hirschsprung's disease (HD). MethodsA prospective study was conducted at Children's Hospital 2 in Ho Chi Minh City, Vietnam, from January through December 2015. Patients suspected of HD during this period underwent RSB and were followed in order to assess the accuracy of the diagnostic test with CIS compared with conventional histology (H&E). ResultsA total of 188 children with RSB were investigated. Median age was 7.1 (range 0.2–159) months with 65.4% boys. HD was confirmed in 80 (42.6%) children. There were 1 false positive and no false-negative cases. The sensitivity and specificity were 100% (80/80) and 99.1% (107/108) for CIS and 100% and 85.2% for H&E, respectively. Cohen's kappa coefficient was 0.9891 with a diagnostic accuracy of 99.5% for CIS, compared with 0.8303 and 91.5% for H&E, respectively. There were no serious complications related to the RSB. ConclusionRSB with CIS is a useful diagnostic method for HD, with easy interpretation and no need for cryostat. CIS has a high diagnostic accuracy and should be considered as the primary method for the diagnosis of HD by RSB.Level of evidence: Diagnostic Studies – Level I.

Effectiveness of calretinin and role of age in the diagnosis of Hirschsprung disease.

Gold standard in Hirschsprung disease (HD) diagnosis is rectal suction biopsy (RSB) with hematoxylin and eosin and acetylcholinesterase (ACE) stainings. Sensitivity is 83-93% and specificity is between 95 and 99%. The rate of non-conclusive results (NC) due to inadequate samples or variability in the interpretation is about 11-37.8%. Interpretation is still difficult in neonates. Calretinin (C) is a calcium-binding protein, expressed in the nervous system. It has been introduced as a marker to improve the diagnosis accuracy in HD. We compare sensitivity, specificity between ACE and ACE+C and investigate whether the introduction of C could reduce the rate of inconclusive results. We also tried to define the most adequate age to obtain accurate results from RSB. Data from patients undergoing rectal suction biopsies from 2005 to 2014 was analyzed. Until 2010 we used ACE; since 2011 we used ACE+C. The ROC curve analysis of the NC results regarding the age, showed an optimal cut-off point at 1.5months (m). It divides the sample into two groups which we compared. We analyzed 91 patients. Results of the RSB: 40 HD (44%), 34 no Hirschsprung (37.4%) and 17 NC (18.7%). Sensitivity=97.5%, specificity=97.1%, not including the NC (1 false positive, 1 false negative). Results depending on the staining: ACE (n=58) (%) ACE+C (n=33) (%) p Sensitivity 96 100 1 Specificity 94.7 100 1 NC 24.1 9.1 0.077 Results depending on the age: <1.5m (n=27) (%) >1.5m (n=64) (%) p Sensitivity 92.3 100 0.325 Specificity 100 96.8 1 NC 40.7 9.4 0.001 CONCLUSION: Calretinin decreases the rate of inconclusive results, but not significantly. The percentage of inconclusive results decreases in patients olders than 1.5m. Further studies are necessary to determine if this technique is useful to improve RSB results in infants younger than 1.5months.

Current practice patterns of rectal suction biopsy in the diagnostic work-up of Hirschsprung's disease: results from an international survey.

The diagnosis of Hirschsprung's disease (HD) was revolutionized by the introduction of rectal suction biopsy (RSB), allowing specimens to be taken without general anesthesia on the ward or as an out-patient procedure. However, insufficient tissue samples are not uncommon, and subsequently histopathologists often remain reluctant to confirm the presence or absence of enteric ganglion cells merely on the basis of submucosal RSBs. The aim of this study was to evaluate the current usage of RSB in the diagnostic work-up of HD based on an international survey. A 15-item questionnaire was distributed among participants and faculty members at the 21st International Meeting of the Pediatric Colorectal Society. Eighty-seven pediatric surgeons from 30 countries completed the anonymous survey (response rate 70.2%), grouped into 68 (78.2%) staff surgeons and 19 (21.8%) trainees, with a median work experience of 18years (range 2-45years). Of these, 74 (85.1%) use RSB in the diagnostic work-up of patients with suspected HD, whereas 13 (14.9%) prefer open full-thickness biopsy under general anesthesia. In total, 47 (63.5%) respondents perform ≥20 RSBs (range 3-100 RSBs) per year. Five different RSB instruments were reported, the most common ones being rbi2 (65.0%), Solo-RBT (15.0%) and multipurpose suction biopsy kit (8.3%). Only 22 (29.7%) of the respondents use a defined negative suction pressure, with a median of 10mL air (range 6-25mL air). The most proximal reported biopsy site was located at a median of 2cm (range 1-15cm) above the pectinate line and a median of 2 (range 1-5) specimens are routinely taken, mainly from the posterior rectal wall. Insufficient tissue samples with need for repeat RSB were encountered in a median of 10% (range 0-40%). Most frequently used staining methods for rectal biopsies are hematoxylin/eosin (75.9%), acetylcholinesterase (73.6%), and calretinin (33.3%). Overall, 36 (48.6%) respondents had experienced RSB-related complications, including self-limiting rectal blood loss (n=28), persistent rectal bleeding requiring blood transfusion (n=9) and rectal perforation requiring surgical intervention (n=7). Although RSB is considered to be today's gold standard for the diagnosis of HD, many aspects of its current usage are lacking consensus. Therefore, a prospective multi-center study or larger global audit appears warranted to identify if the present survey reflects common surgical practice and to establish universal standards for RSB.

Significance of Paneth Cells in Histologically Unremarkable Rectal Mucosa.

Paneth cell metaplasia of the rectal epithelium is a common histologic finding in patients with chronic inflammatory bowel disease. However, the clinical significance of isolated Paneth cells in otherwise unremarkable rectal mucosa has not been extensively examined. This study examined the frequency and clinical correlates of rectal Paneth cells in 245 biopsies obtained from patients between the ages of 2 weeks to 20 years in a pediatric tertiary care facility from 2010 to 2011. The specimens comprised 193 endoscopic pinch biopsies and 52 rectal suction biopsies. All 245 cases were endoscopically and histologically unremarkable with no prominence of eosinophils, no altered mucosal architecture, and no inflammation. Paneth cells were present in 42 cases (17.1%), which is higher than previous reports. Only 1 of 42 patients with rectal Paneth cells was subsequently diagnosed with Crohn disease. In our study population, the finding of Paneth cells was associated with young age, and the incidence of Paneth cell cases decreased with increasing age (χ=13.69, P=0.0002). Constipation was the most common presenting symptom in patients with rectal Paneth cells and was highly associated with the presence of Paneth cells (odds ratio 4.5, 95% confidence interval: 2.2-9.0). Paneth cells in otherwise unremarkable pediatric rectal biopsies are not rare and frequently occur in common conditions such as idiopathic constipation.

Suction rectal biopsy yields adequate tissue in children

Background/purposeHirschsprung disease (HD) is diagnosed by rectal biopsy, with suction rectal biopsy (SRB), the preferred technique in neonates. Reported SRB adequacy has varied overall with concern for decreased diagnostic yield in older children. The study aim was to assess SRB adequacy by age in children with the current device used at our institution. MethodsFollowing IRB approval, a retrospective cohort of children (1 to 18years) evaluated by SRB for HD was identified through billing records. Data regarding demographics, procedure, results, and complications were collected and analyzed using SPSS. Results56 children (median age 3.9years) underwent SRB with an 80.4% overall success rate. Patients older than 5years had 90.5% adequacy rate compared to 74.3% in those younger. Univariate analysis revealed weak association of inadequate specimens with younger age and males, and no association with insurance, race/ethnicity, weight–height or BMI percentile, sedation type, or procedure location. SRB under general anesthesia (GA) had 100% adequacy (n=6). Patients with inadequate initial biopsy achieved diagnosis by SRB with increased sedation (n=5) or full thickness biopsy under GA (n=5). ConclusionWith adequacy of 80.4% overall and 90.5% for patients greater than 5years, SRB is effective in evaluating the older child for HD.

Calretinin Variant in Hirschsprung Disease: Pretransitional Sign and Surgical Planning.

Objectives Calretinin immunohistochemistry (IHC) with slight submucosal positivity (variant) has been reported in short forms of Hirschsprung disease (HD). The first aim of our study was to confirm this variant being a pretransitional sign. The second was to evaluate if its presence on suction rectal biopsy was reliable enough for surgical planning. Methods We performed a monocentric retrospective study of all rectosigmoid HD between 2009 and 2014. Suction rectal biopsy defined two groups of calretinin results: P- group with no staining and P+ group with slight positivity. P- group final resection specimen was retrospectively reanalyzed looking for the variant to appear within the aganglionic bowel. P+ group surgical management was analyzed in terms of initial symptoms, radiological results, type of surgery and outcome, before and after formal identification of the variant by our pathologists (2011). Results Overall, 54 patients with rectosigmoid HD were included from 2009 to 2014. In the P- group (48.2%), the variant pattern finally appeared on all surgical resection specimens, 1 cm before the transitional zone (minimum-maximum: 0-5 cm). In the P+ group, 46% of these patients had peroperative biopsies before the transanal pull through before 2011 against 10% after 2011, with 100% of ganglionic coloanal anastomosis and similar outcome. Conclusion We confirmed our hypothesis of this varied pattern of calretinin being a pretransitional sign only visible on rectal suction biopsies in short segment HD and reliable enough to plan direct transanal pull through.