Anorectal Manometry for the Diagnosis of Hirschsprung Disease : New Heights for the Balloon or Just Hot Air?

We conducted a systematic review to determine and compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM) and rectal suction biopsy (RSB) in infants suspected of Hirschsprung disease. This is a systematic review. Articles were identified through electronic searches in Medline, EMBASE.com and Cochrane Controlled Trials Register. Searches were limited to articles published after 1966 in PubMed and after 1980 in EMBASE.com. Studies were included if infants underwent at least one of the following tests: CE, ARM or RSB, followed by full-thickness biopsy and/or clinical follow-up as the reference standard. Two reviewers independently assessed the methods of data collection, patient selection, blinding and prevention of verification bias and description of the test protocol and reference standard. Data to construct 2 x 2 tables were abstracted for each test. Twenty-four studies met our inclusion criteria, but 2 studies were subsequently excluded for statistical analysis because data was missing to construct the 2 x 2 table. RSB (14 studies for a total of 993 patients) was the most accurate test, having both the highest mean sensitivity (93%; 95% confidence interval [CI], 88%-95%) and mean specificity (98%; 95% CI, 95%-99%). Sensitivity and specificity of ARM (9 studies for a total of 400 patients) were similar to those of RSB (91% vs 93%, P = 0.73 and 94% vs 98%, P = 0.08, respectively). Sensitivity and specificity of CE (12 studies for a total of 425 patients) were significantly lower than those of RSB and ARM, with mean sensitivity and mean specificity of 70% and 83%, respectively. RSB and ARM are the most accurate tests in the diagnostic workup of Hirschsprung disease.

The term gastrointestinal neuromuscular disease describes a clinically heterogeneous group of disorders of children and adults in which symptoms are presumed or proven to arise as a result of neuromuscular, including interstitial cell of Cajal, dysfunction. Such disorders commonly have impaired motor activity, i.e. slowed or obstructed transit with radiological evidence of transient or persistent visceral dilatation. Whilst sensorimotor abnormalities have been demonstrated by a variety of methods in these conditions, standards for histopathological reporting remain relatively neglected. Significant differences in methodologies and expertise continue to confound the reliable delineation of normality and specificity of particular pathological changes for disease. Such issues require urgent clarification to standardize acquisition and handling of tissue specimens, interpretation of findings and make informed decisions on risk-benefit of full-thickness tissue biopsy of bowel or other diagnostic procedures. Such information will also allow increased certainty of diagnosis, facilitating factual discussion between patients and caregivers, as well as giving prognostic and therapeutic information. The following report, produced by an international working group, using established consensus methodology, presents proposed guidelines on histological techniques and reporting for adult and paediatric gastrointestinal neuromuscular pathology. The report addresses the main areas of histopathological practice as confronted by the pathologist, including suction rectal biopsy and full-thickness tissue obtained with diagnostic or therapeutic intent. For each, indications, safe acquisition of tissue, histological techniques, reporting and referral recommendations are presented.

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.