History and exam

Key diagnostic factors

common

vomiting

Vomiting is a non-specific symptom, but when bilious it must prompt an evaluation for a surgical cause, which could be Hirschsprung's disease.

explosive passage of stool/gas

Also known as a ‘blast sign’, explosive passage of stool and/or gas upon digital rectal examination is pathognomonic for Hirschsprung's disease.

abdominal distension

Distension due to retained stool and gas is a common presenting symptom in any age group.

delayed passage of meconium

Most infants with Hirschsprung's disease fail to pass meconium in the first 24-48 hours of life.

faltering growth

Distension and constipation may lead to feeding difficulties and poor weight gain in children with a late diagnosis of Hirschsprung's disease.[47]

uncommon

chronic constipation

Delayed diagnosis of Hirschsprung's disease may present as a history of refractory constipation in children older than 12 months.[47]

Other diagnostic factors

common

fever

A sign of Hirschsprung-associated enterocolitis (HAEC).[11][13]

diarrhoea

May be a sign of HAEC, or may result from overflow incontinence due to severe chronic constipation.[11]

bloody stool

May be seen in HAEC.[56]

abdominal tenderness

May be seen in HAEC.[11]

septic shock

Patients with severe HAEC may present with signs of septic shock including tachycardia, hypotension, lethargy, and altered mental status.[1][11]

uncommon

caecal or appendiceal perforation

Up to 7% of patients present with neonatal bowel perforation due to distal obstruction.[15][57] Caecal or appendiceal perforation in an otherwise healthy neonate should prompt work-up for Hirschsprung's disease.[14]​​

meconium plug syndrome

Hirschsprung's disease is found in up to 15% of neonates presenting with meconium plug syndrome.[58]

Risk factors

strong

Down syndrome

A common association, found in up to 16% of babies with Hirschsprung's disease.[17][22]​​[24]​​​​[42][43] Between 1% to 6% of babies with Down syndrome have Hirschsprung's disease.[42]​​​​​​

male sex

Short-segment Hirschsprung's disease has a male preponderance of up to 4:1.[1] Syndromic and long-segment Hirschsprung's disease affects boys and girls equally.​[1]

family history

A family history of Hirschsprung's disease is reported in about 8% of patients.[44] The risk for a sister of a male patient is 0.6%, whereas the risk for a brother of a female patient with long-segment disease is 18%.[18]​​

weak

Shan-Waardenburg syndrome

Mutations in the EDNRB-ET3 signalling pathway disrupt neural crest cell development in Shah-Waardenburg syndrome and predisposes to Hirschsprung's disease.[30]

Mowat-Wilson syndrome

Hirschsprung's disease is diagnosed in approximately 45% of patients with Mowat-Wilson syndrome, an autosomal dominant disorder characterised by a mutation in the ZEB2 gene.[45]

Haddad syndrome

This syndrome is a combination of Hirschsprung's disease and congenital central hypoventilation syndrome due a mutation in the PHOX2B gene.[31] Patients are also at risk for developing neuroblastoma.​

multiple endocrine neoplasia type 2 (MEN2)

Mutations in the RET proto-oncogene are associated with MEN2 as well as with Hirschsprung's disease.[46] See Multiple endocrine neoplasia syndromes.​

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