Difficulties in making the diagnosis of Hirschsprung disease in early infancy

Y. Nofech-Mozes, A. Rachmel, T. Schonfeld, M. Schwarz, R. Steinberg, Shai Ashkenazi

Research output: Contribution to journalArticlepeer-review


This study highlights the less common presentations of Hirschsprung disease (HD) and HD-associated enterocolitis (HAE) in neonates and infants. We present three infants whose diagnosis was delayed because of atypical presenting features, especially with failure to gain weight, decreased appetite, episodes of diarrhoea and vomiting and hypoalbuminaemia. The reported incidence of HAE ranges from 0 to 16.2%. To avoid complications of life-threatening HAE, primary care physicians require a high index of suspicion of the more unusual presentations of HD in neonates and infants.

Original languageEnglish
Pages (from-to)716-719
Number of pages4
JournalJournal of Paediatrics and Child Health
Issue number12
StatePublished - Dec 2004
Externally publishedYes


  • Enterocolitis
  • Hirschsprung disease
  • Infants
  • Neonates


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