Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: A report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies

Abstract

Intestinal Dysganglionoses (IDs) represent a heterogeneous group of Enteric Nervous System anomalies including Hirschsprung's disease (HD), Intestinal Neuronal Dysplasia (IND), Internal Anal Sphincter Neurogenic Achalasia (IASNA) and Hypoganglionosis. At present HD is the only recognised clinico-pathological entity, whereas the others are not yet worldwide accepted and diagnosed. This report describes the areas of agreement and disagreement regarding definition, diagnosis, and management of IDs as discussed at the workshop of the fourth International Meeting on "Hirschsprung's disease and related neurochristopathies." The gold standards in the preoperative diagnosis of IDs are described, enlighting the importance of rectal suction biopsy in the diagnostic workup. The most important diagnostic features of HD are the combination of hypertrophic nerve trunks and aganglionosis in adequate specimens. Acetylcholinesterase staining is the best diagnostic technique to demonstrate hypertrophic nerve trunks in lamina propia mucosae, but many pathologist from different centers still use H&E staining effectively. Moreover, the importance of an adequate intraoperative pathological evaluation of the extent of IDs to avoid postoperative complications is stressed. Although it is not clear whether IND is a separate entity or some sort of secondary acquired condition, it is concluded that both IND and IASNA do exist. Other interesting conclusions are provided as well as detailed results of the discussion. Further investigation is needed to resolve the many controversies concerning IDs. The fourth International Conference in Sestri Levante stimulated discussion regarding these entities and led to the International guidelines to serve the best interest of our patients.

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

“…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.…”

Sonographic Visualization of the Rectoanal Inhibitory Reflex in Children Suspected of Having Hirschsprung Disease

“…o identify children with Hirschsprung disease (HD) among those affected by constipation, the absence of peristalsis can be shown in 2 ways 1 : (1) by radiographic investigation with a contrast enema in which the contracted segment of the bowel is visualized and (2) by measurement of the intra-anal pressure (anometry) during provocation of the rectoanal inhibitory reflex (RAIR) in which the pathognomic absence of the RAIR is recorded. 2 The diagnosis is then finally verified by a rectal biopsy, revealing the combination of hypertrophic nerve trunks and aganglionosis.…”

Clinical Examinations of the Rectoanal Inhibitory Reflex Correlated with Anography Findings, Histopathological Findings, and Clinical Outcomes

“…CE can usually detect or indicate the transition zone, which can be used to decide whether a transanal, trans-abdominal laparoscopic, or an open surgical approach should be used [8].…”

“…Manometry is not necessary to diagnose HD but adds a diagnostic value to determine the RAIR, thus sometimes identifies children who do not have HD [8]. Manometry has been used to measure the intra-anal pressure during provocation, thus demonstrating the presence or absence of the RAIR [10].…”