Rectal biopsy for Hirschsprung's disease: what is the optimum method?

Alizai, Naved; Batcup, G.; Dixon, M. F.; Stringer, Mark D.

doi:10.1007/s003830050264

Cited by 76 publications

(84 citation statements)

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“…In our series, 14.5% of patients had inadequate biopsies containing insufficient amount of submucosa for a proper diagnosis. This rate is in accordance with what other authors have reported, with percentages of inadequate biopsies ranging from 11.6 to 26% [6,[39][40][41]. To overcome the problem of insufficient material for a proper diagnosis, we always took three biopsies per patient.…”

Section: Discussionsupporting

confidence: 88%

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation

Montedónico

Piotrowska²,

Rolle³

et al. 2008

Pediatr Surg Int

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Rectal suction biopsy (RSB) is the gold standard diagnostic procedure for disorders of bowel motility. This study describes our experience with RSB stained with histochemistry as the first diagnostic approach in a large series of patients presenting with chronic constipation. Between 1993 and 2005, 766 children underwent RSB for persistent chronic constipation. The specimens were snap frozen, sectioned and stained with conventional hematoxylin and eosin (H&E) and with nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d) and acetylcholinesterase (AChE) histochemical stainings. Adequate amount of submucosa was present in 655 (85.5%) out of 766 cases and formed the basis of this study. RSB in 540 (82%) patients were reported as normal. Hirschsprung's disease was found in 47 (7.2%) patients with characteristic features of absence of ganglion cells, increased AChE activity in the lamina propria and muscularis mucosae, thick nerve fibers in the submucosa, and a lack of NADPH-d-positive fibers in muscularis mucosae. RSB in 59 (9%) patients presented features of intestinal neuronal dysplasia such as submucosal hyperganglionosis, giant ganglia, ectopic ganglia and increased AChE activity in lamina propria. Hypoganglionosis was suspected in nine (1.3%) children because of sparse or absent ganglion cells and low AChE and NAPDH-d activity in muscularis mucosae. Three patients (0.4%) developed bleeding following RSB, requiring diathermy of the bleeding point. Thus, we conclude that RSB is a simple and safe method when used as the first diagnostic approach in patients with chronic constipation. The combination of two histochemical stainings techniques provides a high level of accuracy in the diagnosis of intestinal dysganglionosis.

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Section: Discussionsupporting

confidence: 88%

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation

Montedónico

Piotrowska²,

Rolle³

et al. 2008

Pediatr Surg Int

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“…Persistent rectal bleeding requiring blood transfusion occurred in approximately 0.5 % of all included RSBs [12,13,34,50,56,59,62,64]. Rectal perforation [12,13] and pelvic sepsis [12,13,36] have each been reported in less than 0.1 % of cases. Rectal perforation seemed to be more probable in newborns and infants as demonstrated by the presence of portions of circular muscle layer in this age-related group compared with older patients.…”

Section: Discussionmentioning

confidence: 98%

“…Inadequate tissue samples result in a diagnostic delay with need for repeat RSBs or full-thickness rectal biopsies, thus causing considerable parental anxiety, prolonged hospital stay and increased costs [11]. Although very rare, there have been a few articles reporting on serious RSB-related adverse events such as severe rectal bleeding and bowel perforation, which in turn add further risk to the patient [12,13].…”

Section: Introductionmentioning

confidence: 99%

Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications

Friedmacher

Puri

2015

Pediatr Surg Int

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“…If a full-thickness biopsy is obtained, this could be done as low as 1 cm above the dentate line because the myenteric plexus extends more distally. Between 9% and 30% of RSBs are inadequate and must be repeated, primarily because of insufficient submucosa in the biopsy (21)(22)(23). This is particularly a problem in children older than 1 year.…”

Section: Investigations Histopathologymentioning

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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Rectal biopsy for Hirschsprung's disease: what is the optimum method?

Cited by 76 publications

References 0 publications

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation

Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation

Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications

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

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