Diagnosis Of Hirschsprung's Disease Research Articles

Clinical Relevance of Pathological Diagnosis of Hirschsprung's Disease with Acetylcholine-Esterase Histochemistry or Calretinin Immunohistochemistry.

Hirschsprung disease (HD) manifests as a developmental anomaly affecting the enteric nervous system, where there is an absence of ganglion cells in the lower part of the intestine. This deficiency leads to functional blockages within the intestines. HD is usually confirmed or ruled out through rectal biopsy. The identification of any ganglion cells through hematoxylin and eosin (H&E) staining rules out HD. If ganglion cells are absent, further staining with acetylcholine-esterase (AChE) histochemistry or calretinin immunohistochemistry (IHC) forms part of the standard procedure for determining a diagnosis of HD. In 2017, our Institute of Pathology at University Hospital of Heidelberg changed our HD diagnostic procedure from AChE histochemistry to calretinin IHC. In this paper, we report the impact of the diagnostic procedure change on surgical HD therapy procedures and on the clinical outcome of HD patients. We conducted a retrospective review of the diagnostic procedures, clinical data, and postoperative progress of 29 patients who underwent surgical treatment for HD in the Department of Pediatric Surgery, University of Heidelberg, between 2012 and 2021. The patient sample was divided into two groups, each covering a treatment period of 5 years. In 2012-2016, HD diagnosis was performed exclusively using AChE histochemistry (AChE group, n = 17). In 2017-2021, HD diagnosis was performed exclusively using calretinin IHC (CR group, n = 12). There were no significant differences between the groups in sex distribution, weeks of gestation, birth weight, length of the aganglionic segment, or associated congenital anomalies. Almost half of the children in the AChE group, twice as many as in the CR group, required an enterostomy before transanal endorectal pull-through procedure (TERPT). In the AChE group, 4 patients (23.5%) required repeat bowel sampling to confirm the diagnosis. Compared to the AChE group, more children in the CR group suffered from constipation post TERPT. Elevated AChE expression is linked to hypertrophied extrinsic cholinergic nerve fibers in the aganglionic segment in the majority of patients with HD. The manifestation of increased AChE expression develops over time. Therefore, in neonatal patients with HD, especially those in the first 3 weeks of life, an increase in AChE reaction is not detected. Calretinin IHC reliably identifies the presence or absence of ganglion cells and offers multiple benefits over AChE histochemistry. These include the ability to perform the test on paraffin-embedded tissue sections, a straightforward staining pattern, a clear binary interpretation (negative or positive), cost-effectiveness, and utility regardless of patient age. The ability of calretinin IHC to diagnose HD early and time-independently prevented repeated intestinal biopsies in our patient population and allowed us to perform a one-stage TERPT in the first months of life, reducing the number of enterostomies and restoring colonic continuity early. Patients undergoing transanal pull-through under the age of 3 months require a close follow-up to detect cases with bowel movement problems.

Клінічна симптоматика агангліонозу кишечника та його ускладнень у дітей віком від 3 до 6 років

Clinical symptoms of colonic aganglionosis (CA) in children 3 to 6 years of age are difficult due to its clinical presentation which represents as the complications of this pathology, because of it the classic signs of Hirschsprung’s disease (HD) are partially eliminated or hidden, which makes it difficult for the effective diagnosis of this pathology in these children. Purpose - to study the clinical symptoms of CA and its complications in children 3 to 6 years of age and to determine the significance of clinical symptoms for the verification of HD. Materials and methods. We have done retrospective analysis of the clinical manifestations in 240 children 3 to 6 years of age with HD, considering the extent of CA, the presence of associated malformations and complications. There were 95 (39.58%) patients with the rectal form of CA, 143 (59.59%) with the rectosigmoid form, 2 (0.83%) with the subtotal form. There were no patients with total CA in this age group. There were 192 boys (80.0%), and 48 girls (20.0%). At the age of 3-4 years 71 (29.58%) patients were diagnosed with HD, at the age of 4-5 years - 79 (32.91%), and at the age of 5-6 years - 90 (37.51%) patients. Results. The diagnosis of HD can be of course considered as late for patients from 3 to 6 years of age. We found associated malformations in 45 (18.75%) patients. Associated intestinal malformations were found in 26 (10.83%) patients, of which 19 (7.92%) had malformations that significantly increased the clinical symptoms of CA and its complications: malrotation (n=17 (7.08%)) and internal abdominal hernia (2 (0.83%)). Enterocolitis (EC) was found in 98 (40.83%) patients. The 1st degree of EC was established in 9 (3.75%) children, 2nd degree - in 34 (14.16%) and 3rd degree - in 55 (22.91%) patients. Among these 55 with 3rd degree of EC the critical moment in the progression of the course of EC was toxic megacolon (TM), which occurred in 14 (25.46%). Hypotrophy was established in 18 (7.49%) patients. Anemia of various degrees was diagnosed in 35 (14.58%) children. The acute stage of the course of HD was diagnosed in 98 (40.83%) patients, subacute - in 77 (32.08%) and chronic - in 65 (27.08%) children. The clinical course of HD was correlated with the extent of the colon affected with CA and is closely related to the presence of its complications: EC, anemia and hypotrophy. Conclusions. Clinical symptoms of CA in children aged 3 to 6 years remains typical and informative upon careful evaluation of complaints, medical history, and objective and laboratory results. The severity of the course, associated developmental malformations and late diagnosis are the main reasons for the appearance of severe complications of HD in children 3 to 6 years of age - EC (40.83%), TM (25.46%), hypotrophy (7.49%) and anemia (14.58%). Variants of complications in CA are characteristic and predictable. Comparison of the clinical signs of CA and its complications contribute to the correct assessment of the patient's condition and timely establishment of the correct diagnosis. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of all institutions mentioned in the work. Informed consent of the children’s parents was obtained for the research. No conflict of interests was declared by the authors.

Enhancing diagnosis of Hirschsprung’s disease using deep learning from histological sections of post pull-through specimens: preliminary results

PurposeAccurate histological diagnosis in Hirschsprung disease (HD) is challenging, due to its complexity and potential for errors. In this study, we present an artificial intelligence (AI)-based method designed to identify ganglionic cells and hypertrophic nerves in HD histology.MethodsFormalin-fixed samples were used and an expert pathologist and a surgeon annotated these slides on a web-based platform, identifying ganglionic cells and nerves. Images were partitioned into square sections, augmented through data manipulation techniques and used to develop two distinct U-net models: one for detecting ganglionic cells and normal nerves; the other to recognise hypertrophic nerves.ResultsThe study included 108 annotated samples, resulting in 19,600 images after data augmentation and manually segmentation. Subsequently, 17,655 slides without target elements were excluded. The algorithm was trained using 1945 slides (930 for model 1 and 1015 for model 2) with 1556 slides used for training the supervised network and 389 for validation. The accuracy of model 1 was found to be 92.32%, while model 2 achieved an accuracy of 91.5%.ConclusionThe AI-based U-net technique demonstrates robustness in detecting ganglion cells and nerves in HD. The deep learning approach has the potential to standardise and streamline HD diagnosis, benefiting patients and aiding in training of pathologists.

Efficacy of Toluidine Blue Staining in Rectal Biopsy with Patients of Hirschsprung Disease

Background: The diagnosis of Hirschsprung disease (HD) is dependent on the histological study of rectal biopsy for ganglion cells and nerve fibers. Hematoxylin and Eosin (H&E) stain is commonly used. However, diagnosis is not possible with H&E staining every time, because staining has limitations in the diagnosis of immature ganglion cells in neonates and in the submucosal area where the ganglion cells are small in number. Using Toluidine blue (Tb) stain it has become easier to identify ganglion cells.Objective: To find out the efficacy of toluidine blue staining in the diagnosis of Hirschsprung disease.Materials and Methods: A cross-sectional descriptive observational study was carried out with the histological findings of 60 rectal punch biopsies and 60 full-thickness rectal biopsies from the corresponding same patients from March 2018 to February 2020. Ten cases of inadequate punch biopsy were excluded from the study. After paraffin embedding, slides were stained with H&E and Tb stains. Then stained sections were examined for the presence or absence of ganglion cells and hypertrophic nerve fibers in the submucosa and in between muscle layers. Result: Out of 50 punch biopsy cases, 33(66.0%) cases with H&E stain and 35(70.0%) cases with Tb stain showed presence of hypertrophic nerves (HN). In Non-HD cases, with H&E stain 11(22.0%) cases showed somewhat easy to identify ganglion cells. By using Tb stain ganglion cells were easy to identify in 4(8.0%) cases and somewhat easy to identify in 8(16.0%) cases. Out of 60 full-thickness rectal biopsy 38(63.30%) cases showed presence of hypertrophic nerves in both H&E and Tb stains. In Non-HD cases with H&E stain ganglion cells somewhat easy to identify in 8(13.3%) cases; easy to identify in 9(15.0%) cases and very easy to identify in 2(3.3%) cases. By using Tb stain, the identification of ganglion cells were 1(1.7%), 9(15.0%) and 9(15.0%) respectively. Study showed Tb stain was superior to H&E in the identification of ganglion cells and hypertrophic nerves.Conclusion: Toluidine blue stains should be used as the routine stain in adjunct to H&E stain to highlight ganglion cells in suspected Hirschsprung disease.KYAMC Journal Vol. 14, No. 02, July 2023: 69-73.

Very early onset perinatal constipation: Can it be cow's milk protein allergy?

Delayed passage of meconium or constipation during the perinatal period is traditionally regarded as a signal to initiate further work up to evaluate for serious diagnoses such as Hirschsprung's disease (HD), meconium ileus due to Cystic Fibrosis, etc. The diagnosis of HD particularly warrants invasive testing to confirm the diagnosis, such as anorectal manometry or rectal suction biopsy. What if there was another etiology of perinatal constipation, that is far lesser known? Cow's milk protein allergy (CMPA) is often diagnosed in infants within the first few weeks of life, however, there are studies that show that the CMPA allergen can be passed from mother to an infant in-utero, therefore allowing symptoms to show as early as day one of life. The presentation is more atypical, with perinatal constipation rather than with bloody stools, diarrhea, and vomiting. The diagnosis and management would be avoidance of cow's milk protein within the diet, with results and symptom improvement in patients immediately. Therefore, we discuss whether an alternative pathway to address perinatal constipation should be further discussed and implemented to potentially avoid invasive techniques in patients. This entails first ruling out CMPA with safe, noninvasive techniques with diet modification, and if unsuccessful, then moving forward with further diagnostic modalities.

A case of Hirschsprung’s disease with segmental dilatation of the colon

BackgroundSegmental dilatation of the colon (SDC) is a rare disease that is characterized by an abrupt segment of dilated colon between regions of normal-sized colon. We herein report a case of SDC associated with Hirschsprung’s disease (HD).Case presentationThe patient developed abdominal distension soon after birth, and enema examination showed localized intestinal dilatation from the descending colon to the sigmoid colon with significant caliber changes on both the oral and anal sides of the dilated colon. The findings of the rectal mucosal biopsy were consistent with HD. We considered this case to be a combination of HD and SDC and performed laparoscopic-assisted Soave pull-through with resection of the dilated colon when the patient was 7 months old. Resected specimens showed steep caliber changes on the oral and anal sides of the dilated colon. In the pathological examination, no ganglion cells were found in the submucosa on the anal side of the dilated colon. Based on the above findings, we finally made the diagnosis of HD with SDC.ConclusionIn HD with a characteristic dilated colon, the possibility of SDC should be considered.

The serum acetylcholinesterase (AChE) levels as an alternative diagnostic tool in pre-operative Hirschsprung's disease

Background: The golden standard of Hirschsprung's disease diagnosis is through a histopathological examination of the aganglionic site. The significance of serum acetylcholinesterase (AChE) immunohistochemistry for diagnosing Hirschsprung's disease has been widely accepted. However, the study of serum AChE levels in Hirschsprung's disease patients is still scarce. We aimed to examine the serum levels of AChE in individuals with Hirschsprung's disease. Methods: An analytical observational study with a cross sectional design was conducted on 29 patients with Hirschsprung's disease. We divided the patients into two groups: 14 in Hirschsprung's disease group and 15 in the control group. Serum AChE level was measured using the enzyme-linked immunosorbent assay (ELISA) method. The optimal cut-off value for detecting Hirschsprung’s disease was determined using the ROC analysis. Results: The prevalence of Hirschsprung was higher in males than in females. The average AChE level in the Hirschsprung group was 95.89 ± 51.11 Units/mL, while the average level of AChE in the control group was 44.45 ± 33.40 Units/mL. The optimal cut-off value was 46.615 Units/mL. We found that this study's sensitivity, specificity, positive predictive value, negative predictive value, and accuracy values ​​were 83.3%, 70.6%, 66.7%, 85.7%, and 75.9%, respectively. There was a significant relationship between serum AChE levels and Hirschsprung's disease (p=0.004). Conclusion: The AChE levels in blood serum can be used as an alternative diagnostic parameter for Hirschsprung's disease. Patients with Hirschsprung's disease had higher serum AChE levels than patients without Hirschsprung's disease.

The use of carglumic acid in hyperammonemia secondary to bacterial overgrowth in lately diagnosed Hirschsprung disease

Hirschsprung disease is associated with significant bacterial proliferation and colonic dysbiosis leading to life threating hyperammonemia. In this report, we highlight the use of carglumic acid; a synthetic ammonia scavenger in hyperammonemia secondary to bacterial overgrowth in Hirschsprung disease. A 33-month-old female patient with a history of delayed passage of meconium presented with constipation, vomiting, abdominal distention, and an altered level of consciousness. Physical examination revealed a puffy face, non-pitting edema and distended, rigid, non-tender abdomen with faint bowel sounds. Further investigations showed anemia, hypoalbuminemia, hyperammonemia, prolonged prothrombin time and partial thromboplastin time alongside a normal liver enzymes panel. Abdominal X-ray imaging revealed severely dilated bowel loops reassembling obstruction and impending perforation. A lower gastrointestinal contrast study revealed a classical picture of Hirschsprung disease with a transition zone at the rectosigmoid. Urgent surgical intervention was performed resecting the distended part of the sigmoid colon applying an end colostomy with a distal end closure was done. The diagnosis of Hirschsprung disease was confirmed histopathologically. The patient was started on oral antibiotics and carglumic acid 600 mg q12h for the state of hyperammonemia and the unavailability of sodium benzoate. After its administration the ammonia levels dropped from 302 μmol/L to a nadir of 46 μmol/L. Taking into consideration our case carglumic acid proved to be an effective ammonia scavenger in such cases.

Total collectomy in adult woman with Hirschsprung's Disease: a case report

Hirschsprung's disease (HD) is a congenital anomaly of innervation of the lower intestine, limited to the colon, resulting from partial or total obstruction. The main symptom is the inability of a newborn to evacuate within 48 hours after birth, which can cause intestinal obstruction in the neonate and megacolon in children and adults. Therefore, this study reported the case of a 30-year-old female patient with HD affecting the entire colon, where we opted for surgical treatment. In the present study, it was emphasized the medical need to have a better understanding of the clinical picture of HD, as well as its complications and the importance of early diagnosis. In the report presented, it was discussed a late diagnosis of HD and how it affects the patient's life. It presented the improvement in the quality of life that can be obtained by offering an accurate diagnosis and adequate treatment for the patient.

Social Determinants of Health and Hirschsprung-associated Enterocolitis

BackgroundHirschsprung-associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in patients with Hirschsprung disease (HD). The objective of this study was to examine the association of social determinants of health (SDOH) with HAEC. MethodsA review of patients who underwent primary pull through for HD at our institution from 2014 to 2021 was performed. Clinical, surgical, and SDOH data were collected. HAEC was defined by an international scoring system. Categorical variables were analyzed via Fisher's exact tests and continuous variables with Mood's median tests. ResultsOne hundred patients were identified with 29 patients (29%) having at least one episode of HAEC during a median follow-up of 31 months (IQR: 11.7–55.7). Children who utilized public transportation for clinic visits, had one or more missed appointments, had any reported safety concerns, were involved with Child Protective Services, had parents/guardians who were not married, lived with people other than their immediate family, or had mothers who reported drug use or lack of prenatal care were found to have a higher likelihood of developing HAEC (p<0.04 for all). Age at HD diagnosis, age at pull through, operative approach, length of aganglionic colon, and Trisomy 21 were not significant predictors of HAEC. ConclusionsIn our series of 100 patients undergoing primary pull through, there was a significant correlation of HAEC with several social determinants of health elements while anatomical and clinical factors were not associated with HAEC. Attention to social determinants of health and identifying high-risk patients may serve to prevent morbidity and mortality from HAEC. Level of EvidenceIII

Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease.

Hirschsprung disease is one of the most common congenital anomalies that affect colorectal function. Rectal biopsy demonstrating the absence of ganglion cells in the affected bowel is the gold standard for diagnosis. Suction and incisional rectal biopsies are appropriate methods for obtaining diagnostic tissue. The goal of this study is to determine if any differences in adequacy exist between suction and incisional rectal biopsies at our institution. We conducted a retrospective review of suction and incisional rectal biopsies for inadequacy per procedure at a tertiary pediatric hospital. Each procedure for rectal biopsy was also evaluated by a number of biopsies per procedure. We used a two-sample test of proportions to compare the inadequacy of suction vs. incisional biopsies. 133 rectal suction biopsy procedures (227 biopsies) and 125 incisional biopsy procedures (140 biopsies) were analyzed. In patients 6months of age and older, the percentage of inadequate procedures was substantially higher in the suction biopsy group (24.1% vs 0.9%, p < 0.01). A substantially higher proportion of inadequacy was found in the suction rectal biopsy group compared to the incisional cohort among the older patient cohort, suggesting incisional biopsies should be strongly considered as the primary rectal biopsy method in patients older than 6months.

Is nerve bundle hypertrophy a reliable criteria for diagnosing Hirschsprung disease? A case control study using Calretinin as an adjunct tool for confirming Hirschsprung disease.

Objective: To determine the frequency of nerve bundle hypertrophy in aganglionic segments in relation to the site of biopsy, along with the assessment of value of Calretinin immunostaining in the diagnosis of suspected cases of Hirschsprung disease. Study Design: Cross Sectional study. Setting: Department of Pathology, Pakistan Institute of Medical Sciences (PIMS) Islamabad. Period: September 2018 to March 2019. Material &amp; Methods: After routine tissue processing colonic biopsies were examined for presence of ganglion cells and hypertrophic nerve presence or absence. Diagnosis of Hirschsprung disease was based on the absence of ganglion cells in submucosal and myenteric plexus, the presence or absence of hypertrophic nerves (more than 4 nerves &gt;30 µm thick/×200 field or more than 2 nerves &gt;40 µm thick/×200 field) was also noted in all cases of Hirschsprung disease (aganglionic segments). Calretinin immunostaining was applied to all the cases and controls and findings were recorded as positive or negative staining. Statistical Analysis: Data was analyzed using SPSS version 23. Qualitative data was calculated as frequencies and percentages. Pearson Chi square test was used to establish the association of nerve bundle hypertrophy with the site of biopsy. Results: Total biopsies were 60; 30 each from ganglionic and aganglionic segments. Calretinin sensitivity in our study was 90%, specificity 83.3%. In 30 cases of aganglionosis hypertrophic nerves were present in 13(21.7%) and they were absent in 17 (28.3%). No significant association (p value= 0.447) was seen in nerve bundle hypertrophy and site of biopsy. Conclusion: Calretinin immunohistochemistry can be used as a reliable ancillary technique in the diagnosis of HD. Aganglionosis may not always be associated with submucosal nerve hypertrophy which alone should not be used as a criteria for HD diagnosis but instead adjunct methods like Calretinin immunostaining must be utilized to confirm presence or absence of ganglion cells. There is no association of nerve hypertrophy with site of biopsy.

Acetylcholinesterase histochemistry: A very useful technique in the diagnosis of Hirschsprung’s disease

Hirschsprung’s disease (HD) is a common congenital paediatric disorder. The gold standard for its diagnosis is the demonstration of the absence of ganglion cells on H&amp;E stained sections from a spastic segment of the bowel, still at times; conclusive diagnosis of HD is difficult. This study was done to assess the accuracy of rapid Hematoxylin &amp; Eosin (H&amp;E) staining and AChE histochemistry in combination for the diagnosis of HD, especially in frozen section specimens. Samples from 36 clinically suspected HD cases were evaluated for the presence or absence of ganglion cells on H&amp;E staining on both fresh-frozen and paraffin-embedded sections, whereas AChE staining was done on frozen sections only. Of the 36 cases of frozen section specimens from the spastic region of the colon, GCs were absent in 28 cases on H&amp;E staining while positive staining patterns on AChE histochemistry were observed in 29 cases. Formalin-fixed paraffin-embedded sections showed the absence of GC on H&amp;E staining in 28 cases. The sensitivity and specificity of frozen sections with rapid H&amp;E were 77.78% and 81.82% while the sensitivity and specificity of AChE histochemistry were 80.56% and 81.82% respectively in the diagnosis of HD. Application of AChE histochemistry as an ancillary technique on frozen sections specimens of HD in combination with rapid H&amp;E staining is very useful for definitive diagnosis of HD.

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.

Inpatient Care Utilization and Epidemiology of Hirschsprung Disease: Analysis of the National Inpatient Sample.

Hirschsprung disease (HD) is associated with significant morbidities including long-term bowel dysfunction. The aim of this study was to update national and regional trends in the inpatient care utilization and epidemiology of HD in the United States between 2009 and 2014 using the National Inpatient Sample (NIS) database. We identified all pediatric admissions with a diagnosis of HD within the NIS from 2009 through 2014. We analyzed HD discharges with respect to various demographic and clinical factors, specifically trends and group differences in inflation-adjusted cost of hospitalization, procedures, co-morbidities, hospital mortality, and length of stay (LOS). A modified Cochrane-Armitage trend test was used to analyze trends for dichotomous outcome variables, and regression analyses were conducted for continuous and binary variables. National estimates of HD-discharges showed no significant trend between 2009 and 2014 ( P = 0.27), with estimated relative incidence ranging from 46 to 70 per 100,000 pediatric discharges. Inflation-adjusted cost of hospitalization increased by $1137 (SE $326) per year ( P = 0.0005). Pull-through procedures in neonatal age group increased from 33.0% in 2009 to 36.5% in 2014 ( P = 0.003). Hospital mortality has remained stable between 0.4% and 1.0% ( P = 0.598). LOS decreased by 0.23 days per year ( P = 0.036). Increasing cost of HD-related hospitalization despite decreasing LOS was observed in this cohort. Stable rate of hospitalizations with increasing proportions of pull-through procedures among neonates was noted. Future studies and development of protocols to standardize patient care could improve outcomes and healthcare spending.

ЭПИДЕМИОЛОГИЧЕСКИЕ АСПЕКТЫ БОЛЕЗНИ ГИРШПРУНГА

Introduction. Hirschsprung's disease (HD) is a congenital malformation characterized by the absence of intramural ganglia in the intestinal wall. Frequent complications of Hirschsprung's disease and other disorders of intestinal motility are problems of late or erroneous diagnosis, and sometimes to a greater extent than complications of surgical techniques when performing surgical interventions [1,2]. Aim. The lack of statistical data characterizing the incidence of HD on the territory of the Republic of Belarus became the reason for conducting an epidemiological study based on the annual statistical reports of the Republican Scientific and Practical Center for Pediatric Surgery. Materials and methods. A descriptive epidemiological study of the incidence of Hirschsprung's disease on the territory of the Republic of Belarus was carried out on the basis of data from the surgical departments of the Republican Scientific and Practical Center for Pediatric Surgery for the period from 01.01.2010 to 31.12.2019 (10 years). Results. During the study period, 130 patients born in the period 2010 - 2019 were radically operated with different forms of BG. According to the data presented in Table 1, from 7 to 20 cases of HD were detected annually (13 (10 ÷ 17) cases / year according to the median), which was 11.90 (8.37 ÷ 14.34) cases per 100 thousand newborns. The incidence of HD ranged from 1 in 5889 to 1 in 15 432 population. No dependence of the number of HD cases per year on the birth rate was found. The incidence of HD in the Republic of Belarus averages 1: 9250. According to the literature, the incidence of HD in the world was 20.64 (18.05 ÷ 22.43) cases per 100,000 newborns, while in the Republic of Belarus for the period from 2010 to 2019 years the incidence was lower and amounted to 11.90 (8.37 ÷ 14.34) cases per 100,000 newborns. Conclusion. The incidence of HD in the Republic of Belarus averages 1: 9250, which is significantly less than in foreign countries according to the literature. The reasons for this are different, but, apparently, the main one is the insufficient alertness of pediatricians and pediatric surgeons in relation to HD and, accordingly, insufficient diagnostic coverage of pediatric patients with impaired colon function. Compliance with the principles of work of specialists on continuity in the work of specialists, starting from the neonatal period, the wary attitude of doctors towards HD will improve the diagnosis of HD in children.

Submucosal Nerve Diameter in the Rectum Increases With Age: An Important Consideration for the Diagnosis of Hirschsprung Disease.

Hypertrophic submucosal nerves, defined as ≥40 µm in diameter, are considered supportive of a diagnosis of HSCR, but the effect of age on nerve diameter has not been well-studied. We sought to determine the distribution of the largest nerve diameter in ganglionic rectal biopsies and the significance of hypertrophic submucosal nerves in the diagnosis of Hirschsprung disease (HSCR) based on age. Rectal biopsies performed in the evaluation of HSCR were retrospectively reviewed from 179 patients (151 ganglionic biopsies, 28 aganglionic biopsies), and the diameter of the largest submucosal nerve was measured. In non-Hirschsprung disease (non-HSCR) biopsies, submucosal nerve diameter increased with age. In patients <1 year, the average diameter was 34.1 ± 11.6 µm but increased to 50.8 ± 17.3 µm after 1 year of age. Submucosal nerves ≥40 µm in diameter were significantly associated with HSCR across all ages [HSCR = 25/28 (89.3%) vs non-HSCR = 59/151 (39.1%), p < 0.0001] and remained significant in patients <1 year of age [HSCR = 22/24 (91.7%) vs non-HSCR = 19/91 (20.9%), p < 0.0001]. The diameter of submucosal nerves increases with age, and ≥40 µm nerves are common after 1 year of age.

Improving the accuracy of contrast enema in diagnosis of Hirschsprung disease

Abstract Background Hirschsprung’s disease (HD) is one of the most important causes of chronic constipation in children due to its possibly fatal Amir Maurice Eskander complications if left untreated. Contrast enema (CE) is the first investigation done to diagnose Hirschsprung’s disease as it’s the safest, least invasive, most widely available and least expensive as compared to anal manometry and rectal biopsy however it had shown a wide range of sensitivity and specificity in previous studies. Aim of the work to improve the accuracy of contrast enema by studying each possible abnormal finding related to Hirschsprung’s disease and calculating its sensitivity and specificity in comparison with biopsy, as a gold standard method to determine the most reliable signs to use for diagnosis. Patients and Methods This cross sectional study was carried at pediatric radiology unit Ain Shams university hospitals, starting from July 2018 to June 2019. 43 patients met all inclusion and exclusion criteria and were included in the study. Contrast enemas results and findings were compared to the patient’s final diagnosis. PPV, NPV, specificity, and sensitivity was calculated for each finding. Results Absence of rectal gas in the plain film, transitional zone, abnormal recto-sigmoid index, enlarged colonic caliber and delayed evacuation showed significant association with HD. Abnormal recto-sigmoid index was the most reliable sign in our study to diagnose HD having the highest sensitivity and specificity. Conclusion CE is an excellent initial investigation in HD and combining it with detailed history taking and clinical examination can lead to decrease in unnecessary rectal biopsies.

Gastrointestinal Bleeds.

Gastrointestinal Bleeds.

Diagnosis of Hirschsprung disease by hydrocolonic sonography in children.

To compare hydrocolonic sonography with histopathology for diagnosing children with symptoms highly suggestive of Hirschsprung disease (HD). In this prospective study, patients presenting refractory constipation highly suggestive of HD underwent hydrocolonic sonography with retrograde infusion of saline into the colon. The dilated segments, narrowed segments, luminal diameter ratio, transition zone (TZ), thickening, and blood perfusion of the upstream bowel were evaluated. The sensitivity and specificity of combined and single parameters were determined in comparison with biopsy. One hundred and three children were included in this study; 49 were confirmed to have HD. The luminal diameter ratio showed superiority over other parameters. An area under the curve (AUC) of 0.969 (95% confidence interval [CI]: 0.936-1.000) and a cutoff value of 1.51 were established by receiver operating characteristic (ROC) curve analysis of the luminal diameter ratio (sensitivity: 89.8%; specificity: 96.3%). By combining the luminal diameter ratio as the major criterion with two minor criteria, hydrocolonic sonography showed the same sensitivity (91.8%) and better specificity (96.3% vs 87%) than contrast enema, but this difference was not statistically significant (p = 0.063). Consistency analysis showed a kappa value of 0.825 (p < 0.001), indicating excellent agreement between hydrocolonic sonography and contrast enema. Hydrocolonic sonography is a valuable diagnostic tool with both high sensitivity and specificity for HD diagnosis, allowing morphological and vascular assessments of the colon, and correlates well with contrast enema. In the appropriate setting, hydrocolonic sonography may be an alternative screening method for HD in a large group of children with constipation. Key Points • Hydrocolonic sonography is a simple, well-tolerated diagnostic tool with both high sensitivity and specificity for HD diagnosis. • Hydrocolonic sonography allows morphological and vascular assessments of the colon, and correlates well with contrast enema. • Hydrocolonic sonography is a possible alternative modality for paediatric patients highly suggestive of HD.