Table 1 Recommendations for the diagnosis of HSCR

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%