Long-term outcome of neonates with suspected Hirschsprung's disease, but normal rectal biopsy

Daniel Harlev, Oleg Kharenko, Jacob Waxman, Tanya Frankel, Dan Turner, Oren Ledder*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Background and objectives Hirschsprung's disease (HD) must always be considered in very early-onset constipation. Although HD has a well-described clinical course, little is known about those neonates in whom HD was excluded. We aimed to describe the long-term clinical outcomes of neonates with a clinical suspicion of HD that was excluded by rectal suction biopsy. Methods This is a single-center double-cohort comparative study. Neonates who underwent rectal mucosa biopsy for suspected HD were age and sex matched with healthy controls. A survey on clinical outcomes, stooling patterns, and other gastrointestinal (GI)-related conditions was sent to parents. Pathology slides were re-reported by an experienced histopathologist blinded to the clinical data. Results A total of 51 neonates were included [25 cases, 26 controls; 41% males, median time of follow-up 4.25 years (interquartile range 2.7-6.9)]. Nine (36%) of patients in the case group required prolonged laxative use for constipation during the first year of life compared with 0 (0%) controls (P<0.001). This difference was maintained at the end of follow-up, with 5 (20%) versus 0 (0%), respectively (P=0.02). Case neonates were significantly more likely to be hospitalized or to be diagnosed with a chronic GI-related condition than the controls (33 vs. 12%, P=0.01; and 19 vs. 8%, P=0.04, respectively). Conclusion Neonatal constipation is associated with long-term GI-related disorders and should be considered clinically significant even when the diagnosis of HD is excluded. Neonates with early-onset abnormal stooling patterns should be monitored with adequate pediatrician or pediatric gastroenterologist follow-up.

Original languageAmerican English
Pages (from-to)917-922
Number of pages6
JournalEuropean Journal of Gastroenterology and Hepatology
Issue number8
StatePublished - 1 Aug 2016

Bibliographical note

Publisher Copyright:
© 2016 Wolters Kluwer Health, Inc.


  • Hirschsprung
  • chronic constipation
  • infant
  • rectal biopsy


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