Diagnosis Of Hirschsprung Research Articles

Full-Thickness Rectal Biopsy in Children Suspected of Having Hirschsprung's Disease: The Inconclusive Biopsy.

The diagnosis of Hirschsprung's disease relies on histologically proven aganglionosis and nerve trunk hypertrophy in rectal biopsies. Although the frequency of inconclusive biopsies is relatively low, it is a relevant clinical problem. The aim of the present study was to investigate whether a re-evaluation of archived full-thickness biopsies (FTBs) stained with hematoxylin and eosin (HE), together with immune histochemical (IHC) staining, would be diagnostic in biopsies otherwise deemed inconclusive at initial examination with HE only. A total of 34 inconclusive biopsies in 31 patients were identified. From each tissue block, three slices were cut and stained with HE, S100 and calretinin. A blinded pathologist examined the tissue samples. At re-evaluation, one patient was found positive for HD and 11 negative for HD with both HE and IHC staining, respectively. In all 12 cases, the result was confirmed by the final diagnosis at a 5-year follow-up. The rest of the cases were deemed inconclusive. A re-evaluation of the remaining tissue from the biobank might have saved one third of the children from a re-biopsy. The value of adding IHC to conventional HE staining is dubious.

Rectal suction biopsies to diagnose Hirschsprung's disease in a low-resource environment - optimising cost-effectiveness.

The diagnosis of Hirschsprung's disease (HD) by rectal suction biopsy (RSB) has cost implications that could be reduced by ascertaining the optimal number of specimens required. The aim was to audit our experience to optimise cost-effectiveness. Medical records of all patients who underwent an RSB between January 2018 and December 2021 were reviewed. In 2020, we transitioned from using the Solo-RBT to the rbi2 system (requiring single-use cartridges). Descriptive statistics were reported and a comparative analysis of the diagnostic efficacy of the Solo-RBT versus the rbi2 system was performed. The cost of consumables was calculated according to the number of specimens submitted. Of 218 RSBs, 181 were first and 37 were repeat. The mean age at biopsy was 62 days (IQR 22-65). An average of two tissue specimens were obtained per biopsy. Of the 181 first biopsies, 151 were optimal and 30 suboptimal. HD was confirmed in 19 (10.5%) of the patients. Amongst biopsies where a single specimen was obtained, 16% were inconclusive, compared to 14% with two specimens and 5% with three specimens. The cartridges for the rbi2 system cost R530. If two cartridges are used at initial biopsy the total cost is double of a single tissue specimen sent for initial biopsy, and two specimens sent for repeat biopsies. In a low-resource setting, selecting the appropriate RSB system and obtaining a single specimen is sufficient to diagnose HD. Patients with inconclusive results should undergo a repeat biopsy where two specimens are obtained.

Plasma single-stranded DNA autoantibodies in the diagnosis of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is a neonatal enteric nervous system (ENS) disease characterized by congenital enteric ganglion cell loss. The only treatment is aganglionic bowel segment resection and innervated bowel segment reconstruction. Delayed diagnosis and treatment cause postoperative complications such as intractable constipation and enterocolitis. Existing preoperative HSCR diagnostic methods have shortcomings such as false positives, radiation and invasiveness. We used the robust linear model (RLM) for normalization and the M statistic for screening plasma human autoimmune antigen microarrays and quantitatively assessed single-stranded DNA (ssDNA) antibody levels with enzyme-linked immunosorbent assay (ELISA). The autoimmune antigen microarray revealed that autoantibodies were higher in HSCR plasma than in disease control (DC) and healthy control (HC) plasma. ssDNA antibodies in HSCR plasma were significantly higher than those in DC and HC plasma. Quantitative ssDNA antibody level detection in plasma by ELISA showed that HSCR (n = 32) was 1.3- and 1.7-fold higher than DC (n = 14) and HC (n = 25), respectively. ssDNA antibodies distinguished HSCR from non-HSCR (HC and DC), achieving an area under the curve (AUC) of 0.917 (95% CI, 0.8550-0.9784), with a sensitivity of 96.99% and a specificity of 74.63%. ssDNA antibodies in plasma can serve as a diagnostic biomarker for HSCR in the clinic.

Exploring the value of rectal anal canal pressure measurement in the diagnosis of Hirschsprung's disease

BackgroundThe value of rectal anorectal manometry (ARM) in the diagnosis of Hirschsprung's disease (HD), especially in newborns, has been controversial. This study aims to further explore the value of ARM in the diagnosis of HD. MethodsThis study prospectively collected the rectal and anal canal pressure records of children with high suspicion of HD diagnosed by rectal suction biopsy (RSB) from the West China Hospital of Sichuan University from November 2019 to September 2021. With RSB results as the diagnostic gold standard, the value of ARM examination in the diagnosis of HD was explored through age stratification. ResultsAmong 170 children, the sensitivity of ARM in diagnosing HD was 98%, the specificity was 65%, and the accuracy was 93%. The positive likelihood ratio was 2.83, and the negative likelihood ratio was 0.03. The positive result of ARM is more important to HD. The positive predictive value was 94%, the negative predictive value of the ARM negative result for HD was 85%, the kappa value was 0.680, and the Yuedeng index was 0.63. Through age stratification, it was found that the sensitivity of ARM for HD diagnosis in each age group was relatively close, but the neonatal specificity was only 33%, which was significantly lower than that of children of other age groups. ConclusionARM has high sensitivity in HD children of all ages. In neonates, ARM has a high false positive rate in the diagnosis of HD.

УЛЬТРАЗВУКОВАЯ ДИАГНОСТИКА ХРОНИЧЕСКОГО ЗАПОРА У ДЕТЕЙ: РЕЗУЛЬТАТЫ КЛИНИЧЕСКОГО ИССЛЕДОВАНИЯ

Chronic constipation (CC) is an important medical and social problem, as it can lead to the development of complications, fecal intoxication, social disadaptation and self-isolation of a child, as well as significantly reduce the quality of life. The article presents the results of a clinical study of CC in children using a new diagnostic method - transabdominal and transperianal ultrasound examination (US) of the colon and anorectal zone. The objective of the study was to analyze the course of CC in children depending on the mechanism of its formation according to US of the colon and anorectal zone. Materials and methods of research: the prospective cohort study included 470 children with an established diagnosis of CC at the age of 1 month to 17 years old. The patients were divided into 3 age groups: 1 month. – 3 years (n=166), 4–10 years (n=102), 11–17 years (n=202). The median follow-up was 48 months. The age distribution of children with CC was carried out on the basis of the frequency of visits, against the background of the beginning of attending kindergarten and/or elementary school groups, and the emergence of psychological problems due to the difficulty of going to a public toilet. An evaluation of analysis of the dynamics of US changes in the colon and anorectal zone was carried out by the method of ultrasound diagnosis of Hirschsprung's disease in children (patent № 2547614, authors M.I. Pykov, M.M. Kolisnichenko, I.V. Poddubny). Results: in children aged 1 month to 3 years, 66.9% of cases are statistically significantly dominated by proctogenic constipation type of constipation with US signs of anus spasm and anal sphincter insufficiency. In children aged 4 to 10 years, the mixed mechanism of CC formation prevails (41.1%), and in patients aged 11 to 17 years – cologenic (77.7%), for which the most typical ultrasound signs are dolichocolon (22.8%), anus spasm (8.7%), anal sphincter insufficiency (4.7%). It has been established that despite adequate therapy, the number of patients with the above-described mechanisms of formation of CC increases, which indicates the recurrence and progression of pathological process in children of different age groups. Conclusion: the proposed diagnostic method – transabdominal and transperianal US of the colon and anorectal zone is a highly informative, pathogenetically substantiated method for examining the state of the colon and anorectal zone in children with CC, built on precise objective criteria that are available at any age.

Automatic ganglion cell detection for improving the efficiency and accuracy of hirschprung disease diagnosis

Histopathologic diagnosis of Hirschsprung's disease (HSCR) is time consuming and requires expertise. The use of artificial intelligence (AI) in digital pathology is actively researched and may improve the diagnosis of HSCR. The purpose of this research was to develop an algorithm capable of identifying ganglion cells in digital pathology slides and implement it as an assisting tool for the pathologist in the diagnosis of HSCR. Ninety five digital pathology slides were used for the construction and training of the algorithm. Fifty cases suspected for HSCR (727 slides) were used as a validation cohort. Image sets suspected to contain ganglion cells were chosen by the algorithm and then reviewed and scored by five pathologists, one HSCR expert and 4 non-experts. The algorithm was able to identify ganglion cells with 96% sensitivity and 99% specificity (in normal colon) as well as to correctly identify a case previously misdiagnosed as non-HSCR. The expert was able to achieve perfectly accurate diagnoses based solely on the images suggested by the algorithm, with over 95% time saved. Non-experts would require expert consultation in 20–58% of the cases to achieve similar results. The use of AI in the diagnosis of HSCR can greatly reduce the time and effort required for diagnosis and improve accuracy.

The Value of Calretinin in the Diagnosis of Hirschsprung's Disease in Dakar

<i>Introduction</i>: Hirschsprung's disease is a congenital anomaly characterised by a rarefaction or absence of ganglion cells associated with schwannian hyperplasia or hypertrophy involving the colon or a segment of the colon. Its diagnosis is based on clinical, radiological and histological evidence. Haematoxylin-eosin examination is used in cases of suspected Hirschsprung's disease. However, in some situations it is insufficient to confirm or refute the diagnosis. Immunohistochemical and histo-enzymatic techniques can be used to demonstrate aganglionosis. The aim of our study is to evaluate the interest of calretinin in the diagnosis of Hirschsprung's disease in Dakar. <i>Materials and methods</i>: This was a retrospective and descriptive study from 1 January 2018 to 31 August 2019. It was conducted at the pathology laboratory of Idrissa Pouye General Hospital where 51 paraffin blocks from suspected Hirschsprung's Disease cases were included. All blocks were immunohistochemically studied with anti-calretinin antibody. The diagnosis of Hirschsprung's disease on standard histological examination was based on the absence of lymph node cells in the submucosal and myenteric plexuses. Calretinin immunoreactivity was shown by nuclear and cytoplasmic labelling of ganglion cells and nerve nets. In Hirschsprung's disease, there is an absence of labelling of the nerve plexuses. <i>Results</i>: The majority of patients (73.5%) were aged 2 years or older with a mean age of 3.4 years. The sex ratio was 2. Biopsies constituted 56.86% of the specimens and surgical specimens 43.14%. Concordance between haematoxylin-eosin examination and calretinin immunohistochemistry was observed in 47 cases (92.15%) and discordance in 4 cases (7.15%). The sensitivity of calretinin was 93.75% and the specificity 89.47%. The kappa index was 0.92. The recto-sigmoid form was the most frequent topographic form observed in 83.3% of patients. <i>Conclusion</i>: Morphological examination with haematoxylin-eosin remains a good diagnostic method for Hirschsprung's disease. Calretinin immunohistochemistry is necessary in equivocal cases, in neonates and infants and in case of superficial biopsies.

Comparison between Suction Rectal Biopsy and Full-Thickness Rectal Biopsy in the Diagnosis of Hirschsprung's Disease.

Aim:The aim of this study is to compare suction rectal biopsy (SRB) with full-thickness rectal biopsy (FTRB) in suspected cases of Hirschsprung's disease (HD).Materials and Methods:Between 2014 and 2018, we enrolled 41 consecutive children with suspected HD. We analyzed demographics, sex, age, clinical symptoms, radiological images, and biopsy reports. All the children had undergone X-ray of the abdomen and pelvis and contrast enema. All of them have undergone both SRB and FTRB, and their results were compared.Results:Out of 41 children, 26 were male and 15 were female. The children were aged from 5 days to 12 years. All of them presented with delayed passage of meconium, abdominal distension, and severe constipation. They all were on oral laxatives. The sensitivity and specificity of SRB are 80.95% and 90.00% when compared to FTRB which has 100% and 100%, respectively.Conclusion:FTRB is the gold standard test for diagnosing HD. SRB may be a good screening test in suspected HD cases. SRB is not as equal and effective as FTRB for diagnosing HD.

Predictability of 48-h delayed retention of contrast in barium enema in cases of chronic constipation.

Introduction:Diagnosis of Hirschsprung's disease depends on rectal biopsy. This study was designed to find an alternate diagnostic modality to exclude Hirschsprung's disease.Aim:The aim of this study was to find the predictive value of delayed retention of contrast in excluding Hirschsprung's disease.Materials and Methods:All cases of chronic constipation presenting during the study duration from June 2014 to June 2016 were included. Those without any obvious history of conservative management were excluded. Parameters considered in barium enema were initial film, routine films, and delayed retention of contrast at 24, 48, and 72 h. They were then subjected to rectal biopsy. The results of rectal biopsy and barium enema were analyzed.Results:One hundred and thirty-eight patients presented during the study duration. One hundred and twenty-eight formed the study group. The average age of presentation was 48 months (range, 1–144). The average duration of prior medical management was 8 months (range, 6–48 months). Forty-two cases were diagnosed as Hirschsprung's disease on rectal biopsy. The symptoms resolved in 31 cases after rectal biopsy and 42 cases after definitive surgery. In the remaining 55 cases, dietary modification along with laxatives was instituted, and they were kept under follow-up. The average follow-up was 12 months (range, 6–48 months). Of the various parameters in barium enema, delayed retention of contrast at 48 h had the highest negative predictive value of 99.67%.Conclusion:Delayed retention of contrast at 48 h has the highest negative predictive value in excluding Hirschsprung's disease. This can safely be used to exclude Hirschsprung's disease in cases of chronic constipation.

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5.

Hirschsprung's disease (HD) is a congenital intestinal disease that is clinically manifested as an inability to pass meconium in infants or as long-term constipation in children. Rectal suction biopsy (RSB) to determine the absence of ganglion cells and neural hypertrophy is the most accurate test for the diagnosis of HD at present. Traditional hematoxylin-eosin staining lacks sensitivity and specificity. Acetylcholinesterase staining cannot be widely used due to its complex process. Our novel protocol of immunostaining for calretinin, S100 protein, and protein gene product 9.5 (PGP9.5), which we conducted on RSBs, exhibits high sensitivity and specificity rates of 96.49% (95% confidence interval, 0.88-0.99) and 100% (95% confidence interval, 0.97-1.00), respectively. The HD-affected segments often present as the absence of the expression of calretinin, S100 protein, and PGP9.5, which are markers of neural hypertrophy in the submucosal tissue. This protocol describes the detailed operating process of this new diagnostic method.

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Diagnosis of Hirschsprung's disease in children: Preliminary evaluation of a novel endoscopic technique for rectal biopsy.

Background and AimThe diagnosis of Hirschsprung's disease (HD) relies on anorectal manometry and rectal biopsy. The role of endoscopic biopsy is uncertain for the diagnosis of HD in children. In this study, we evaluated the adequacy of biopsies procured by endoscopic mucosal resection (EMR) for the diagnosis of HD.MethodsConsecutive children with suspected HD from January 2013 to January 2018 were enrolled in the study. EMR was performed using the standard band ligation device at a distance of about 3 cm from dentate line in rectum. All samples were assessed macroscopically and microscopically. An adequate sample was defined as those measuring >3 mm and including adequate submucosa.ResultsA total of 132 children underwent evaluation for constipation in the study period. Of these, 10 children (median age, 4.25 years) underwent EMR using the band ligation device for the evaluation of HD. EMR was performed with and without submucosal lifting injection in four and six children, respectively. All the samples were adequate macroscopically (>3 mm). Absence of ganglion cells was noted in six children. Of these, three children underwent full‐thickness rectal biopsy followed by surgery. Three children did not undergo surgery. Ganglion cells were identified in four children, thereby excluding the diagnosis of HD.ConclusionRectal biopsy using EMR with a band ligation device is feasible, safe, and provides adequate sample for the evaluation of HD in children.

Calretinin, S100 and protein gene product 9.5 immunostaining of rectal suction biopsies in the diagnosis of Hirschsprung’ disease

Objective To evaluate the sensitivity and specificity of calretinin (CR) combined with S100 proteins (S100) and protein gene product 9.5 (PGP9.5) immunostaining of rectal suction biopsies for the diagnosis of Hirschsprung’s disease (HD). Methods We conducted a prospective study and collected 318 patients with suspicious HD in Wuhan Union Hospital. All children included underwent the rectal suction biopsy after careful history and physical examinations to confirm or exclude the HD. We applied a protocol using calretinin combined with S100 and PGP9.5 immunostaining for the identification of ganglion cells and hypertrophic nerve trunks. Finally, we evaluated the usefulness of this method for diagnosis of HD. Results Between February 2014 to January 2017, a total of 318 patients were enrolled in our study. Among them, 219 patients (69%) had ganglion cells on the initial diagnostic protocol, and 99 cases were devoid of ganglion cells. 92% and 93% showed submucosal neural hypertrophy on S100 staining and PGP9.5 staining, respectively. 132 patients underwent a colonic resection, and 99 had confirmed aganglionic segment. The sensitivity and speciflcity rates of our diagnostic protocol were 97.0% (95%CI: 88.0%-99.0%) and 100.0% (95%CI: 97.0%-100.0%) respectively, with positive predictive value and negative predictive value of 94.3% (95%CI: 87.0%-99.0%) and 99.1% (95%CI: 95.0%-100.0%), respectively. Conclusion Calretinin coupled with S100 and PGP9.5 immunostaining on suction rectal biopsies is sensitive and specific for diagnosing HD. Each of them offers speciflc advantages, and these complimentary aspects could contribute to an accurate diagnosis. Key words: Calretinin; S100 protein; Protein gene product 9.5; Hirschsprung’s disease

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.

Delayed diagnosis of Hirschsprung's disease associated with colonic atresia and multiple anomalies: Report of a case and review of the literature

Abstract The co-occurrence of colonic atresia and Hirschsprung's disease is extremely rare and presents a diagnostic and therapeutic challenge. Although colonic atresia is usually recognized shortly after birth, the diagnosis of co-existent Hirschsprung's disease is usually made following anastomotic failure or intestinal obstruction subsequent to restoration of intestinal continuity. This report describes a female infant born with colonic atresia and Hirschsprung's disease associated with multiple anomalies. Previously reported cases are also reviewed, with an emphasis on the importance of coexistent Hirschsprung's disease in any infant born with colonic atresia.

A comparison of suction and full-thickness rectal biopsy in children

BackgroundRectal biopsy evaluation by an experienced pathologist is the gold standard in diagnosis of Hirschsprung's disease (HD). Although both suction rectal biopsy (SRB) and full-thickness (FTRB) rectal biopsy are performed, the ability for SRB to obtain adequate tissue in older children has been questioned. We hypothesized that SRB and FTRB yield tissue specimens of different size but are equally adequate for diagnosis. MethodsRecords of children who underwent rectal biopsy to evaluate for HD between January 2007 and July 2014 were reviewed. Volume, percent submucosa, and specimen adequacy were compared between biopsy techniques, and the effect of age on biopsy adequacy was assessed. Data were analyzed by mixed-effects models with covariate adjustment for age at biopsy and Fisher's exact test. ResultsForty-seven children underwent a total of 58 biopsies, 45 SRB and 13 FTRB. Thirty-seven were performed before 12 mo of age, and 21 after 12 mo of age. Volume of SRB specimens was significantly smaller than FTRB across ages (14.8 ± 7.8 mm3versus 121.3 ± 13.8 mm3, P = 0.0001). Percent submucosa did not differ significantly between SRB and FTRB specimens across ages (63.8 ± 2.7% versus 66.5 ± 4.3%, P = 0.575). The number of inadequate biopsies was low and not significantly different across ages (P = 0.345), or when comparing by biopsy method (P = 0.689). All biopsies were clinically diagnostic. There were no complications. ConclusionsTissue specimens obtained by SRB are smaller than those obtained by FTRB, especially in older children. SRB and FTRB appear equivalent in their ability to provide adequate submucosa. Differences in cost and patient satisfaction between rectal biopsy techniques must be studied to further define the best overall technique.

Immunohistochemical panel for the diagnosis of Hirschsprung's disease using antibodies to MAP2, calretinin, GLUT1 and S100.

The diagnosis of Hirschsprung's disease is currently based on the identification of aganglionosis and the presence of an increase in acetylcholinesterase-positive hypertrophic nerve fibres in the large bowel submucosa. However, acetylcholinesterase staining is laborious and requires a skilled technician. The aim of this study was to identify a method for diagnosing Hirschsprung's disease reliably using an immunohistochemical panel of recently proposed markers. Sixty-nine specimens from 37 patients were evaluated. MAP2 and calretinin antibodies were shown to stain ganglia reliably in the submucosal and myenteric plexuses of normal tissue. By contrast, reduced staining of ganglia was observed in patients with Hirschsprung's disease. Staining for GLUT1 and S100 was used to evaluate the number and thickness of nerve fibres. Gain of GLUT1 and S100 expression was in contrast to the loss of calretinin and MAP2. Hypertrophic submucosal nerve fibres in Hirschsprung's disease develop a perineurium with a ring-like GLUT1 staining pattern similar in size and intensity to that observed in deeper subserosal tissue. The diagnosis of Hirschsprung's disease using immunohistochemical panels could be as accurate as with conventional frozen section techniques. In particular, the use of a combination of markers for ganglia and hypertrophic nerve fibres highlighting a prominent perineurium in Hirschsprung's disease could be an alternative method.

Hirschsprung's Disease in Neonates with Special Reference to Calretinin Immunohistochemistry.

Hirschsprung's disease is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut. The diagnosis of Hirschsprung's disease is based on a combination of clinical features, radiological appearance of the bowel and histological features in Haematoxylin & Eosin stained sections of intestinal biopsies. Calretinin Immunohistochemistry is emerging to be one of the newer methods. This study was undertaken to ascertain 1) clinical profile; 2) mode of presentation; 3) to evaluate the role of Calretinin immunostain in the diagnosis of Hirschsprung's Disease. This prospective and observational study was conducted in the Department of Pathology IPGME&R from July 2013 to September 2014. Eighty nine patients, clinically and radiologically diagnosed with Hirschsprung's disease underwent surgery and were included in the study. The data of every patient including age, sex and presenting symptoms were recorded. Eventually, histopathological examination & immunohistochemistry were done. Total number of cases studied was 89 which aged between 0 days to 28 days. Overall sensitivity in our study to diagnose presence or absence of ganglion cells by calretinin immunohistochemistry was 100% and the specificity is 97.44% with positive and negative predictive value of 84.62 % and 100 % respectively. Calretinin immunohistochemistry holds several advantages, and it's simple and not doubtful; and it is either positive or negative.

Predictive value of nerve trunk size in the neonate.

The diagnosis of Hirschsprung's disease (HD) remains challenging. The identification of ganglion cells is difficult and acetycholine esterase (AChE) staining can be subject to a great variability, particularly in the neonatal period (<8 weeks). Nerve trunks greater than 40 µm are considered to be predictive for HD. The aim of this study was to evaluate the usefulness of measuring nerve trunk size in the newborn with HD. Out of 292 biopsies 69 could be reanalyzed by three independent researchers. 40 µm was used as cutoff point for nerve trunk size. They were subdivided into three groups: (a) diagnosis of HD certain at the first biopsy, (b) no HD and (c) diagnosis of HD remains doubtful and re-biopsy taken. In 87 % of group A nerve trunk size was ≥ 40 µm (SD 13.8). In 84 % of group B trunk size was < 40 µm (SD 16.2). In group C only 60 % of the patients showed a positive correlation between final diagnosis and nerve trunk size. Using 40 µm as the cutoff point gave 13 % false-negative and 16 % false-positive cases. Measurement of the nerve trunk in the neonatal period does not seem to be a reliable method for detecting HD.

How Useful is Contrast Enema in the Diagnosis of Hirschsprung’s Disease? Five-year Experience from a Local Referral Centre

Objective: To review the diagnostic performance of contrast enema examinations for the investigation of Hirschsprung’s disease, determine the usefulness of delayed 24-hour X-rays, and validate water-soluble contrast enemas for the investigation for patients with suspected Hirschsprung’s disease. Methods: This was a retrospective study of all neonates and infants referred for radiological evaluation of symptoms and signs suspicious of Hirschsprung’s disease in Queen Mary Hospital, Hong Kong from January 2007 to December 2011. Patients were included in this study when all radiographs were available and Hirschsprung’s disease had been confirmed or excluded by rectal biopsy or by a combination of enema results, manometry, and close clinical follow-up. Radiographs and reports were reviewed with a checklist of radiological criteria described in the literature, including transitional zone, rectosigmoid index (maximum width of rectum divided by maximum width of sigmoid; abnormal if <1), irregular contractions, mucosal irregularity, spasm, serrations and retention of contrast agent on delayed radiographs. The sensitivity, specificity, positive and negative predictive values of each of these criteria were calculated and considered in the context of recommendations described in the literature. Results: A total of 136 such patients were evaluated during the study period, of whom 86 had barium enemas and 57 had water-soluble contrast enemas. Among all the patients reviewed, the sensitivity, specificity, positive and negative predictive values for all enema examinations (excluding delayed films) in the diagnosis of Hirschsprung’s disease were 69%, 89%, 44% and 96%, respectively. While the corresponding values of all enema examinations (including delayed films) were 100%, 78%, 36% and 100%, respectively. Similar results were noted in patients having barium enemas and water-soluble contrast enema examinations. For patients having barium enemas or water-soluble contrast enemas, with the inclusion of delayed films there was a significant increase in sensitivity compared to sensitivity derived without recourse to delayed films, whilst there was only a slight reduction in specificity. Conclusion: Recourse to water-soluble contrast enemas with the addition of a 24-hour delayed film was useful in the diagnosis of Hirschsprung’s disease.