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Classification of Hirschsprung's disease according to the aganglionic segment length. A – Conventional form with short aganglionic segment (S-HSCR); A and B – a form with long aganglionic segment (L-HSCR); A, B, and C – total colonic aganglionosis (TCA)
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Hirschsprung's disease (HD) is a disorder that involves several medical specialties such as paediatric gastroenterology, paediatric surgery, and pathology. Hirschsprung's disease is a congenital bowel innervation disorder characterised by the absence of ganglion cells in myenteric (Auerbach) and submucosal (Meissner) plexus in the distal colon in i...
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... The most common type is the short-segment type, present in approximately 80% of cases and affecting from the rectum to the distal portion of the sigmoid colon. The next most commonly found type is the long-segment type, affecting 15-20% of the patients with Hirschprung's disease, while the total colonic aganglionosis is the most uncommon type of manifestation, which occurs in less than 5% of cases [9][10][11] . ...
... After making a diagnosis through history taking, physical examination and supporting examinations, patients with Hirschprung's disease must be given immediate treatment [9, 10,11]. The principle of action in Hirschprung's disease is to resect the aganglionic intestine and pull the ganglionic intestine through a point just above the dentate line [12][13][14]15,16,17]. There are several pull-through procedures for Hirschprung's disease such as Swenson, Soave, Duhamel and Rehbein with varying functional results [18,19,20]. ...
Introduction: Hirschprung's disease is a congenital disease that causes intestinal motility disorders. Hirschprung's disease is still the most common condition that causes intestinal obstruction in children. The incidence of Hirschprung's disease is 1:5000 live births. The incidence ratio of this disease is around 4:1 between men and women, with a higher percentage of men. Approximately 75% of cases of Hirschprung's disease occur in the rectosigmoid colon area, 17% in the splenic flexure or transverse colon and 8% along the colon and terminal ileum. The Duhamel
technique still remains a popular procedure most surgeons especially for long segment treatment and redo procedures. The advantage of the Duhamel Procedure is that it is easy to perform, reduces the risk of damage to surrounding structures such as genitourinary innervation, but has the possibility of complications of anastomotic leakage which causes fistulas and abscesses.
Materials and Methods: Total subjects of this study was 441 patients with Hirschprung's disease who were treated with the Soave procedure and the Duhamel procedure at Dr. Moewardi General Hospital in Surakarta, Central Java, Indonesia for the period January 2017 - January 2022. This type of research is descriptive analytics with a retrospective cohort.
Results: The results of the study can be concluded that patients with HAEC increases the risk of constipation. Congenital abnormalities predispose to fecal incontinence. Differences in surgical techniques do not significantly influence or increase the risk of constipation and fecal incontinence based on statistical tests. However, the increased risk of constipation and fecal incontinence is higher in patients undergoing the Duhamel surgical procedure.
Conclusion: Conclusions that can be drawn from research regarding the comparison of long-term outcomes of Hirschsprung disease patients after Soave and Duhamel operations based on the Pediatric Incontinence and Constipation Scoring System at Dr. Moewardi General Hospital in Surakarta, Indonesia for period January 2017 – January 2022, it can be concluded that there is no significant difference in the outcome of patients who underwent the Soave or Duhamel procedures. The Duhamel procedure has a higher prevalence of complications of constipation and fecal incontinence compared to the Soave procedure. The presence of HAEC before the surgical procedure increases the risk of constipation, significantly in the Soave and Duhamel procedures.
... Чутливість аноректальної манометрії (97%) подібна до чутливості повношарової ректальної біопсії [21,22,32]. Однак останній є «золотим стандартом» у діагностуванні ХГ. ...
У сучасній літературі трапляються лише поодинокі випадки діагностування та лікування хвороби Гіршпрунга (ХГ) у дітей шкільного віку, і то ці випадки з дитячих хірургічних клінік країн, що розвиваються. Мета - дослідити клініко-патологічну симптоматику ХГ у дітей шкільного віку для раннього виявлення цієї патології. Матеріали та методи. Проведено ретроспективний аналіз клінічної симптоматики ХГ у 196 дітей шкільного віку за 1980-2021 рр. З ректальною формою агангліонозу кишечника було 117 (59,69%) пацієнтів, із ректосигмоподібною - 76 (38,78%), із субтотальною - 3 (1,53%) дитини. Для вивчення клінічного перебігу враховано анамнез, фізикальне обстеження, дані загальноклінічних лабораторних показників крові, сечі та калу, електрокардіографії, ехокардіографії, ультрасонографії, іригографії, манометрії та ректальної біопсії. Результати. Ентероколіт встановлено у 86 (43,88%) пацієнтів: 1-й ступінь - у 16 (8,16%), 2-й ступінь - у 29 (14,79%), 3-й ступінь - у 41 (20,92%) пацієнта. Токсичний мегаколон відзначено у 9 (5,83%) хворих. Анемію різного ступеня виявлено у 24 (12,24%) дітей. Супутні вади розвитку встановлено у 61 (31,12%) пацієнта, із яких супутні вади розвитку кишечника відзначено у 18 (9,18%) дітей. Гостру форму ХГ виявлено у 70 (35,71%), підгостру - у 64 (32,65%), хронічну - у 62 (31,64%) пацієнтів. Висновки. Клінічні ознаки ХГ у дітей шкільного віку є типовими, які можна отримати після ретельного збирання анамнезу та оцінювання об’єктивного обстеження пацієнта. Для підтвердження діагнозу при ХГ у дітей шкільного віку слід виконувати іригографію, манометрію та ректальну біопсію. Дослідження виконано відповідно до принципів Гельсінської декларації. Протокол дослідження ухвалено Локальним етичним комітетом усіх зазначених у роботі установ. На проведення досліджень отримано інформовану згоду батьків дітей. Автори заявляють про відсутність конфлікту інтересів.
... The gold standard for diagnosing this disease is histological examination of tissue samples obtained by rectal biopsy. (14,15) Histological diagnosis consists of determining the absence of GC and hypertrophy, as well as disorganization of nerve fibers, in the submucosal layer of the biopsy sample. (16) The muscular layer is usually not present in the biopsy samples. ...
Background: This study aimed to compare the immunohistochemical expression of calretinin, Map2, S-100, and Glut1 in rectal biopsy samples from patients suspected of Hirschsprung’s disease (HD).Methods and Results: Rectal biopsy samples from 40 patients with suspected HD were analyzed using hematoxylin and eosin (H&E) and immunohistochemistry (IHC). Immunohistochemical stains were assessed after previous routine histology interpretation, which was classified as “Positive or in favor for HD” and “Equivocal or negative for HD.” The staining patterns for calretinin, Map2, S-100, and Glut1 were analyzed regarding the following structures: lamina propria small nerve fibrils, submucosal small nerve fibrils,submucosal nerve fibers, and submucosal ganglia. The IHC stains for calretinin and Map2 were score-ranked as 0 – negative and 1 – positive. The IHC stain for S-100 was score-ranked as 0 – normal and 1 – hypertrophic. The IHC stain for Glut1 was ranked as 0 – normal perineural and 1 – conspicuous perineural accentuation Calretinin had 92% accuracy, the highest sensitivity (80%) and specificity (92.00%).Map2 also had the same accuracy as calretinin but lower sensitivity (46.67%). Regarding S-100 and Glut1, these two markers did not support a conclusive diagnosis. The accuracy for S-100 and Glut1 was 66.7% and 60%, respectively. Conclusion: Calretinin remains the currently most valuable single IHC marker in diagnosing difficult cases of HD.
... Tindakan yang dapat dilakukan pada Hirschsprung pada klasifikasi ini yaitu miektomi anorectal atau pengupasan mukosa pada otot di rectum termasuk didalamnya pengupasan mukosa sfingter anus interna (Szylberg & Marszalek, 2014). ...
... Dikatakan Hirschsprung segmen Panjang karena segmen pada usus besar yang aganglionik sudah melewati kolon sigmoid yang artinya segmen aganglioniknya lebih Panjang daripada short segment Hirschsprung yang hanya sampai batas kolon sigmoid (Szylberg & Marszalek, 2014). ...
... Hirschsprung dikatakan berjenis total colonic angalionosis jika terdapat 5-11% segmen aganglionik di seluruh kolon (Szylberg & Marszalek, 2014). ...
Abstrak: Hirschsprung’s Disease: Metode Diagnosis Dan Tatalaksana. Penyakit Hirschsprung (HSCR) atau megakolon kongenital adalah penyakit yang ditandai dengan hilangnya kemampuan dilatasi dan peristaltik usus akibat tidak adanya sel ganglion pada pleksus Myentericus (Aurbach’s) dan pleksus submukosa (Meissner). HSCR 80% didiagnosis pada tahun pertama kehidupan atau pada neonatus, dan jarang terlihat pada masa remaja dan dewasa. Diagnosis penyakit Hirschsprung harus ditegakkan sedini mungkin mengingat berbagai komplikasi yang dapat terjadi dan sangat berbahaya bagi nyawa pasien seperti konstipasi, enterokolitis, perforasi usus, dan sepsis yang dapat menyebabkan kematian. Penyakit Hirschsprung yang tidak segera ditangani atau diobati dapat menyebabkan kematian sebesar 80%, terutama karena enterokolitis dan perforasi usus. Penanganan dini penyakit Hirschsprung efektif dalam mengurangi kejadian enterokolitis hingga 30%.
... In rectal suction biopsy (RSB) diagnostics, the yielded specimen needs to be deep enough, i.e. including the submucosa, for high-quality representativeness which is required for accurate analysis [2]. However, a recognized obstacle to this is that RSB specimens might be too superficial, i.e. not including the submucosa, for diagnostic efficacy, in which case a repeat biopsy may be necessary [3]. A lower rate of submucosal representation and, therefore, a lower diagnostic efficacy, has been attributed specifically to aganglionic tissue which has been suggested to be less compliant as a result of fibrosis [4]. ...
... A lower rate of submucosal representation and, therefore, a lower diagnostic efficacy, has been attributed specifically to aganglionic tissue which has been suggested to be less compliant as a result of fibrosis [4]. Other reported factors influencing RSB diagnostic efficacy are the age and weight of the child, and the biopsy collector's and/or pathologist's experience, in addition to the RSB-specimen handling with respect to careless treatment of fresh-and formalin-treated specimens, and/or suboptimal/erroneous orientation in histopathologic leveling [3][4][5][6][7][8][9][10]. Any impact of orienting rectal biopsies or RSB specimens on the diagnostic efficacy is, as yet, unknown, but in 1970, an accurate orientation of fresh RSB specimens was suggested to lead to more accurate histopathological analyses [11]. ...
... To the best of our knowledge, methods of orienting RSB specimens in HD diagnostics, and possible diagnostic effects, have not been described previously. RSB has the apparent advantage of being able to be performed without anesthesia or discomfort for the child [3,12]. However, concerns have been raised as lack of submucosa in the microscope after collection, leveling and staining, is reported frequently [3][4][5]. ...
Background
Optimizing rectal suction biopsy (RSB) diagnostics in Hirschsprung’s disease (HD) may shorten diagnostic time and prevent need for repeated biopsies.
Aim
To explore whether systematic orientation of fresh RSB specimens increased biopsy quality, diagnostic times, diagnostic efficacy, and histopathologic workload, and to explore these outcome measures for aganglionic specimens.
Materials/Methods
This was an observational case-control study conducted at a national referral center for HD on data collected from the local HD-diagnostic register. From 2019 each fresh RSB was oriented by the collector in a notch in a foam cushion, placed in a separate cassette, and sent in formalin for pathological analysis. Outcome measures of oriented RSB samples collected 2019–2021 were compared to those of non-oriented RSB samples collected 2015–2018. Staining/immunohistochemistry consisted of hematoxylin eosin, S-100 and calretinin.
Results
78 children with 81 RSBs and 242 biopsy analyzes were included. The frequency of high-quality RSB specimens was higher in oriented: 40% (42/106) versus non-oriented 25% (34/136) (p = 0.018), the diagnostic turnaround time was shorter: 2 days (1–5) versus 3 days (2–8) (p = 0.015), and the number of additional sectioning/leveling/re-orientation per biopsy was lower: 7 (3–26) versus 16 (7–72) (p = 0.011). Specifically for aganglionic specimens, the frequency of high-quality biopsies was generally higher in oriented than in non-oriented RSB specimens: 47% (28/59) versus 14% (7/50) (p < 0.001); the diagnostic efficacy was higher 95% (19/20) versus 60% (9/15) (p = 0.027) and the diagnostic turnaround time shorter: 2 days (2–3) versus 3 days (2–8) (p = 0.036).
Conclusions
Systematic orientation of fresh RSB specimens improves HD diagnostics. Improvement was consistent in aganglionic specimens.
... The ENS is responsible for gastrointestinal motility patterns; adequate digestive secretion of different electrolytes, enzymes, and mucus, depending on the anato-mophysiological region; and orchestrating the immune and defensive functions of the digestive tract [1]. The ENS is distributed throughout the digestive tract in two plexuses (Figure 1): the myenteric (or Auerbach's) plexus, which forms ganglia that are recognized between the longitudinal and circular muscle layer, and the submucosal (or Meissner's) plexus, which is located between the mucosa and the inner muscular layer in the submucosa [2,3]. The myenteric plexus is primarily responsible for the control of muscle contraction, whereas the submucosal plexus controls secretory functions and blood flow regulation [4]. ...
... HD is a congenital disorder consisting of an absence of ganglion cells in the Auerbach's and Meissner's plexuses of the distal colon [2]; this disorder is either due to an abnormal migration of the primitive cells of the neural crest between the fourth and twelfth week of gestation [2] or a degenerative process of ganglion cells by necrosis, abnormal differentiation, or changes in the cellular microenvironment [2,75]. This results in an aganglionic colon segment with absent motility and symptoms of bowel obstruction [3]. ...
... HD is a congenital disorder consisting of an absence of ganglion cells in the Auerbach's and Meissner's plexuses of the distal colon [2]; this disorder is either due to an abnormal migration of the primitive cells of the neural crest between the fourth and twelfth week of gestation [2] or a degenerative process of ganglion cells by necrosis, abnormal differentiation, or changes in the cellular microenvironment [2,75]. This results in an aganglionic colon segment with absent motility and symptoms of bowel obstruction [3]. ...
The enteric nervous system (ENS) is organized into two plexuses—submucosal and myenteric—which regulate smooth muscle contraction, secretion, and blood flow along the gastrointestinal tract under the influence of the rest of the autonomic nervous system (ANS). Interstitial cells of Cajal (ICCs) are mainly located in the submucosa between the two muscle layers and at the intramuscular level. They communicate with neurons of the enteric nerve plexuses and smooth muscle fibers and generate slow waves that contribute to the control of gastrointestinal motility. They are also involved in enteric neurotransmission and exhibit mechanoreceptor activity. A close relationship appears to exist between oxidative stress and gastrointestinal diseases, in which ICCs can play a prominent role. Thus, gastrointestinal motility disorders in patients with neurological diseases may have a common ENS and central nervous system (CNS) nexus. In fact, the deleterious effects of free radicals could affect the fine interactions between ICCs and the ENS, as well as between the ENS and the CNS. In this review, we discuss possible disturbances in enteric neurotransmission and ICC function that may cause anomalous motility in the gut.
... The ERNICA guidelines recommend a trans anal endorectal pull-through (TERPT) or Duhamel pull-through as the definitive operation for HSCR, both of which can be performed laparoscopically [15]. In the literature, there is no comparative superiority of both diagnostic procedures in terms of complications or long-term bowel motility and a lack of data that determines the optimal timing of the pull-through surgery [24]. Therefore, the surgeon's level of expertise guides the optimal treatment for HSCR. ...
Hirschsprung's disease is a rare disease characterized by the complete absence of ganglionic cells in the colon, thereby causing loss of peristalsis movement of the bowel. Most cases are diagnosed before the age of one. Here, we present a case of a newborn baby boy who was not feeding well and then developed a distended abdomen and began bilious vomiting. Blood mucoid stools were also observed. The diagnosis of Hirschsprung's disease was confirmed through a full-thickness rectal biopsy, and the Duhamel surgical procedure was performed as a course of treatment all within the first few days of birth. No complications were reported, and the baby was safely discharged after seven days. This case demonstrates the importance of timely treatment after prompt diagnosis due to the early recognition of the severe symptoms. Even though this disease is rare, pediatricians should be trained to recognize and treat the child to prevent further detrimental outcomes.
... Szylberg L et al also showed that anal biopsy has 95% accuracy in HD diagnosis but with the use of ancillary techniques like IHC, the sensitivity of correct diagnosis is very high, that is up to 99.7%. 10 In the present study there were 30 aganglionic segments, 13 cases of which showed nerve bundle hypertrophy while 17 cases did not show any hypertrophy. All these cases of aganglionosis were confirmed with negative staining of calretinin for ganglion cells and also the hypertrophic nerves (>40um). ...
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 & 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 >30 µm thick/×200 field or more than 2 nerves >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.
... Variants in genes impact neural crest and enteric progenitor cells' key functions during colonization of the developing gut [2][3][4]. Disturbed proliferation, migration, differentiation or cell survival lead to aganglionosis of variable length in distal parts of the colon. This leads to impaired colonic peristalsis characterized by functional stenosis and chronic stool obstruction culminating in a megacolon. ...
... defined according to Szylberg [3]. Briefly, in short-segmented HSCR specimens the aganglionic region involves the rectum and sigmoid colon. ...
... fiber innervation grades according to absent (1), low (2), intermediate (3), and high (4) innervation density [17] (Fig. 1). Grade 1 (absent) is defined as no visible tubulin + fibers in the lamina propria around the crypts; Grade 2 (low) is characterized as sparse tubulin + innervation, approximately between every second epithelial crypt; Grade 3 (intermediate) ...
Objective:
Hirschsprung's disease (HSCR) is a congenital intestinal neurodevelopmental disorder characterized by the absence of enteric ganglion cells in the distal colon. Although Hirschsprung-associated enterocolitis (HAEC) is the most frequent life-threatening complication in HSCR, to date reliable biomarkers predicting the likelihood of HAEC are yet to be established. We established a three-center retrospective study including 104 HSCR patients surgically treated between 1998 and 2019.
Materials and methods:
Patient-derived cryopreserved or paraffin-preserved colonic tissue at surgery was analyzed via βIII-tubulin immunohistochemistry. We subsequently determined extrinsic mucosal nerve fiber density in resected rectosigmoid specimens and classified HSCR patients accordingly into nerve fiber-high or fiber-low groups. We compared the distribution of clinical parameters obtained from medical records between the fiber-high (n = 36) and fiber-low (n = 68) patient groups. We assessed the association between fiber phenotype and enterocolitis using univariate and multivariate logistic regression adjusted for age at operation.
Results:
Enterocolitis was more prevalent in patients with sparse mucosal nerve fiber innervation (fiber-low phenotype, 87%) compared with the fiber-high phenotype (13%; p = 0.002). In addition, patients developing enterocolitis had a younger age at surgery (3 vs. 7 months; p = 0.016). In the univariate analysis, the odds for enterocolitis development in the fiber-low phenotype was 5.26 (95% confidence interval [CI], 1.67-16.59; p = 0.005) and 4.01 (95% CI, 1.22-13.17; p = 0.022) when adjusted for age.
Conclusion:
Here, we showed that HSCR patients with a low mucosal nerve fiber innervation grade in the distal aganglionic colon have a higher risk of developing HAEC. Consequently, histopathologic analysis of the nerve fiber innervation grade could serve as a novel sensitive prognostic marker associated with the development of enterocolitis in HSCR patients.
