Diagnosis and Therapy of Ultrashort Hirschsprung's Disease

Meier‐Ruge, W.; Bruder, Elisabeth; Holschneider, A. M.; Lochbühler, H; Piket, G.; Posselt, Hans-Georg; Tewes, G.

doi:10.1055/s-2004-830354

Cited by 36 publications

(22 citation statements)

References 10 publications

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“…Recent studies have demonstrated the high specificity of AChE staining but with inadequate sensitivity (up to 85%) [23–25]. False negative results are mostly connected with superficial biopsies (without muscularis mucosa), immaturity of the enzyme system (found in patients under the age of 2), technical variations in staining [26], young age of patients (AChE activity characteristic for HD is observed in 83% of children under 3 months but then grows with the patient's age) [24, 27], HSCR, TCA [28, 29], and Down's syndrome [23]. Typical morphological AChE staining pictures characteristic for HD are detected only in the distal part of the large intestine (beneath the splenic flexure) because innervations of this intestinal section are different by parasympathetic fibres of the spinal cord at the S2–S4 segments.…”

Section: Diagnosticsmentioning

confidence: 99%

Diagnosis of Hirschsprung’s disease with particular emphasis on histopathology. A systematic review of current literature

Szylberg¹,

Marszałek²

2014

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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 its classical form. Rapid and accurate diagnosis of HD is a key element in further treatment patterns. The efficiency of different diagnostic methods used in HD patients may vary. Using one limited diagnostic procedure can lead to as much as a few per cent of overlooked cases. In recent years, rectal biopsy was recognised as an important diagnostic tool that allows for a definitive HD diagnosis with an accuracy of 95% of cases. A correct diagnosis depends on the localisation of the biopsied sample, its representativeness, the number of specimens, and proper interpretation of microscopic studies supported by histochemical and immunohistochemical methods. When several methods are used and all diagnostic criteria are used, the diagnostic sensitivity can almost eliminate cases of undiagnosed patients.

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Section: Diagnosticsmentioning

confidence: 99%

Diagnosis of Hirschsprung’s disease with particular emphasis on histopathology. A systematic review of current literature

Szylberg¹,

Marszałek²

2014

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“…Also described as achalasia of the internal anal sphincter (42), UHD has been reported with an incidence as high as 13.4% in a series of children diagnosed as having HD (43). In a retrospective study, Ciamarra et al (42) reported 20 cases of children with UHD.…”

Section: Ultrashort Hdmentioning

confidence: 99%

A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders

Schäppi

Staiano

Milla

et al. 2013

J. pediatr. gastroenterol. nutr.

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Objective: Primary gastrointestinal neuropathies are a heterogeneous group of enteric nervous system (ENS) disorders that continue to cause difficulties in diagnosis and histological interpretation. Recently, an international working group published guidelines for histological techniques and reporting, along with a classification of gastrointestinal neuromuscular pathology. The aim of this article was to review and summarize the key issues for pediatric gastroenterologists on the diagnostic workup of congenital ENS disorders. In addition, we provide further commentary on the continuing controversies in the field. Results: Although the diagnostic criteria for Hirschsprung disease are well established, those for other forms of dysganglionosis remain ill-defined. Appropriate tissue sampling, handling, and expert interpretation are crucial to maximize diagnostic accuracy and reduce interobserver variability. The absence of validated age-related normal values for neuronal density, along with the lack of correlation between clinical and histological findings, result in significant diagnostic uncertainties while diagnosing quantitative aberrations such as hypoganglionosis or ultrashort Hirschsprung disease. Intestinal neuronal dysplasia remains a histological description of unclear significance. Conclusions:The evaluation of cellular quantitative or qualitative abnormalities of the ENS for clinical diagnosis remains complex. Such analysis should be carried out in laboratories that have the necessary expertise and access to their own validated reference values.

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“…[7][8][9][10] Variability in cholinergic innervation may contribute to false-negative evaluations for HD and, less frequently, to false positives. False-negative results are primarily related to the young age of patients, 8 to short or long segments of aganglionosis [11][12][13] and to HD associated with Down's syndrome. 7 Furthermore, besides typical abnormal staining, several subtle abnormal patterns of acetylcholinesterase staining have been described.…”

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confidence: 99%

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

et al. 2009

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Diagnosis of Hirschsprung disease (HD) is quite entirely based on the histopathological analysis of suction rectal biopsies. This hematoxylin and eosin approach has some limitations, despite the help of acetylcholinesterase staining. The aim of this study was to assess the diagnostic value of calretinin immunochemistry as a simple and reliable method in the diagnosis of HD. A total of 131 initial rectal biopsies carried out for suspicion of HD in children were retrieved, and calretinin immunohistochemistry was carried out on paraffin-embedded biopsies. Diagnosis of HD was made when no staining was observed. The results were statistically analyzed in comparison with our standard method (histology and acetylcholinesterase staining). 130 biopsies were accurately diagnosed on the basis of the positivity or negativity of calretinin staining. The senior pathologists diagnosed all cases of HD with no false positives. Furthermore, 12 additional cases initially considered as doubtful for HD using the standard method, were accurately diagnosed using calretinin immunohistochemistry. The false negative was a case of HD with a calretinin-positive biopsy. We also demonstrate the ease of calretinin interpretation compared with acetylcholinesterase for the junior pathologist. Calretinin immunohistochemistry overcomes most of the difficulties encountered using the combination of histology and acetylcholinesterase staining, and detects almost all cases of HD with confidence, with no false positives. Thus, we demonstrate that calretinin is superior to acetylcholinesterase to complete histology and could advantageously substitute for acetylcholinesterase. Modern Pathology ( The diagnosis of Hirschsprung disease (HD) is based on a combination of clinical features, radiological appearance of the bowel and histological features on suction rectal biopsies, 1,2 that is, aganglionosis and abnormally large nerves. In practice, a definite diagnosis of HD, leading to surgical treatment, is quite entirely based on histological results. 3,4 Several efficient approaches have been devised to assess the diagnosis of HD using a combination of standard histology and histochemistry. Standard histology obtained from rectal suction biopsies that sample mucosa and underlying submucosa, demonstrating rectal aganglionosis, requires the analysis of 100 or more histological sections to ensure good specificity, and is therefore time consuming. Moreover, difficulties in analysis may arise in several situations: (1) when the site of biopsy is too distal, because of the physiological paucity of ganglion cells; (2) when the sample is too superficial with not enough submucosa; and (3) when there is difficulty in identifying ganglion cells with confidence, particularly in neonates.For these reasons, standard histology is frequently supplemented with acetylcholinesterase histochemistry. 5,6 This technique, showing staining of extrinsic nerve fibers, provides quick results but requires frozen tissue samples. The last reports show good specificity of an abnormal ac...

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Diagnosis and Therapy of Ultrashort Hirschsprung's Disease

Cited by 36 publications

References 10 publications

Diagnosis of Hirschsprung’s disease with particular emphasis on histopathology. A systematic review of current literature

Diagnosis of Hirschsprung’s disease with particular emphasis on histopathology. A systematic review of current literature

A Practical Guide for the Diagnosis of Primary Enteric Nervous System Disorders

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

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