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Table 1 Recommendations for the diagnosis of HSCR

From: ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

The diagnosis of HSCR should be based on representative rectal histology, and should be confirmed before pull-through surgery.
• Rectal suction biopsy (RSB) and open biopsy are equally accurate if they provide enough submucosal tissue. The least invasive, feasible method should be chosen.
• Biopsies should be taken from the posterior and/or lateral rectal wall at least 2 cm proximal to the dentate line or 3 cm from the anal orifice, and must contain a representative amount of submucosa.
• A minimum of 1 histologically representative tissue sample is required. One open biopsy usually provides sufficient tissue but with RSB it is advisable to take 2–3 biopsies.
Level of evidence III
Strength of recommendation: Strong, for
Level of agreement: 100%
Rectal biopsy is indicated if the clinical history and physical signs are suggestive of HSCR.
• The classic triad of symptoms is delayed passage of meconium (> 24 h in a term infant), abdominal distension and bilious vomiting.
• The majority of patients present during the neonatal period or early infancy.
• The threshold for biopsy is lowered by the presence of a syndrome associated with HSCR or family history of HSCR
Level of evidence III
Strength of recommendation: Strong, for
Level of agreement: 100%
Rectal biopsy should also be considered for the exclusion of HSCR in:
• Early-onset constipation associated with failure to thrive
• Older children with persistent constipation or symptoms of more generalized intestinal motility disorders
• Patients with an absent recto-anal inhibitory reflex (RAIR) on anorectal manometry
Level of evidence III
Strength of recommendation: Conditional, for
Level of agreement: 100%
Biopsies should be evaluated by an experienced consultant histopathologist, seeking external consultation if necessary
• The presence of any number of ganglion cells on hematoxylin and eosin (H&E) staining excludes HSCR.
• If ganglion cells are not seen, additional histologic evaluation should be considered before setting a diagnosis of HSCR.
• Calretinin and/or peripherin should be used to look for ganglion cells, particularly in premature infants where these are small and not well visualised on H&E.
• In HSCR, acetylcholinesterase activity is increased, and calretinin immunohistochemistry is negative.
(Within Europe, external consultation can be requested from an ERNICA centre. A Clinical Patient Management System e-platform is under development)
Level of evidence III
Strength of recommendation: Strong, for
Level of agreement: 100%