Anorectal manometry with reference to operative rectal biopsy for the diagnosis/exclusion of Hirschprung’s disease in children under 1 year of age

Jarvi, Kristiina; Koivusalo, Antti; Rintala, Risto; Pakarinen, Mikko P.

doi:10.1007/s00384-008-0612-z

Cited by 23 publications

(13 citation statements)

References 14 publications

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“…However, the reported diagnostic accuracy of ARM versus RSB varies considerably, and ARM has been reported to have a significantly lower rate of specificity and positive predictive value in some studies. 53,54 Additionally, the accuracy of ARM in the diagnosis of HSCR in neonates conflicts in the literature. [55][56][57] In a subgroup analysis of diagnostic accuracy of ARM in infants younger than 6 months, de Lorijn et al 41 found overall lower sensitivity of 88% and specificity of 89% but no significant difference from the total group.…”

Section: Anorectal Manometrymentioning

confidence: 99%

Diagnosis of Hirschsprung Disease

2019

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Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately rests upon histopathological evaluation of a rectal biopsy. For the experienced pathologist, conventional hematoxylin-and-eosin-stained sections often suffice to exclude HSCR or establish the diagnosis. However, ancillary diagnostic tests such as acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary and extremely helpful in some cases. In this Perspectives article, we review the clinical and pathological features of HSCR, highlight those that are found in most patients, and discuss how to address particularly challenging aspects of the diagnostic workup.

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Section: Anorectal Manometrymentioning

confidence: 99%

Diagnosis of Hirschsprung Disease

2019

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“…ARM has the advantages of being a less-invasive method without the exposure to ionizing radiation. The limitations include the need for the patient to be in a normal physiologic and quiet state to avoid possible artefacts (35,36). A recent comprehensive systematic review by de Lorijn et al (35) compared the diagnostic accuracy among RSB, ARM, and BE for the diagnosis of HD.…”

Section: Armmentioning

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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“…26 At anorectal manometry, the physiological recto-anal inhibitory reflex induced by rectal distension, is absent. 28 The diagnosis should be confirmed by the absence of ganglia and the abundance of cholinergic nerve fibers in the rectal biopsy performed at least 2 cm above the dentate line to avoid the physiologic aganglionic zone in the caudal rectum. 29 Most cases of Hirschsprung's disease are sporadic and are associated with mutations in the receptor tyrosine kinase proto-oncogene.…”

Section: Is E a S E S A Sso Ciated With Cip Omentioning

confidence: 98%

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Basilisco,

Marchi,

Coletta

2023

Neurogastroenterology Motil

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Chronic intestinal pseudo‐obstruction is a rare and heterogeneous syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine with air/fluid levels in the absence of any mechanical occlusive lesion. Several diseases may be associated with chronic intestinal pseudo‐obstruction and in these cases, the prognosis and treatment are related to the underlying disease. Also, in its “primary or idiopathic” form, two subgroups of patients should be determined as they require a more specific therapeutic approach: patients whose chronic intestinal pseudo‐obstruction is due to sporadic autoimmune/inflammatory mechanisms and patients whose neuromuscular changes are genetically determined. In a context of a widely heterogeneous adult population presenting chronic intestinal pseudo‐obstruction, this review aims to summarize a practical diagnostic workup for identifying definite subgroups of patients who might benefit from more specific treatments, based on the etiology of their underlying condition.

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Anorectal manometry with reference to operative rectal biopsy for the diagnosis/exclusion of Hirschprung’s disease in children under 1 year of age

Cited by 23 publications

References 14 publications

Diagnosis of Hirschsprung Disease

Diagnosis of Hirschsprung Disease

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

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

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