Pediatric Surgery International

, Volume 26, Issue 11, pp 1083–1086 | Cite as

Delayed diagnosis of imperforate anus: an unacceptable morbidity

  • Carmen TurowskiEmail author
  • Jens Dingemann
  • John Gillick
Original Article



Diagnosis of imperforate anus is usually made shortly after birth with physical examination. Nonetheless, a significant number of patients have presented beyond the neonatal period without recognition of anorectal malformation. We reviewed our experience of anorectal malformations, with particular emphasis on the timing of diagnosis.


This retrospective study reviewed patients with imperforate anus between 1999 and 2009. Documentation included gender, time of diagnosis, complications, and classification. Delayed diagnosis was defined as diagnosis made >48 h of life.


Ninety-nine patients with imperforate anus were managed, of whom 21 presented with delayed diagnosis. The condition was classified as perineal (n = 11), recto-urethral (n = 3), vestibular fistula (n = 3) and without fistula (n = 4). Patients showed at least one of the following symptoms: abdominal distension (61.9%), bilious vomiting (38.1%), delayed passage of meconium (19.0%), and sepsis (9.5%). Delayed diagnosis was made on day 4 in median (range 3–43). This delay was associated with bowel perforation in 9.5%.


Despite routine physical examination postpartum, one in five neonates born with imperforate anus had a delayed diagnosis. This delay may lead to avoidable, serious morbidity. Therefore, we emphasise the practice of thorough perineal examination during the initial newborn examination to identify the presence of anorectal malformations.


Imperforate anus Delayed diagnosis Bowel perforation Anorectal malformation Postnatal perineal examination 


  1. 1.
    Kim HL, Gow KW, Penner JG, Blair GK, Murphy JJ, Webber EM (2000) Presentation of low anorectal malformations beyond the neonatal period. Pediatrics 105:E68CrossRefPubMedGoogle Scholar
  2. 2.
    Kamat AM, Hrabovsky EE (1999) Imperforate anus: an unusual presentation of a common disease. W V Med J 95:305–306PubMedGoogle Scholar
  3. 3.
    Chakravartty S, Maity K, Ghosh D, Choudhury CR, Das S (2009) Successful management in neglected cases of adult anorectal malformation. Singapore Med J 50:e280–e282PubMedGoogle Scholar
  4. 4.
    American Academy of Pediatrics Committee on Fetus and Newborn (2004) Hospital stay for healthy term newborns. Pediatrics 113:1434–1436CrossRefGoogle Scholar
  5. 5.
    American Academy of Pediatrics. Committee on Fetus and Newborn (2010) Hospital stay for healthy term newborns. Pediatrics 125:405–409CrossRefGoogle Scholar
  6. 6.
    McEvoy M, Hanrahan F, Clarke T (2009) Improving the safety of early newborn hospital discharge. Irish Medical TimesGoogle Scholar
  7. 7.
    Seidel HM (2006) Primary care of the newborn, 4th edn. Saunders/Elsevier, Philadelphia, pp 37–60. ISBN 0-323-03724-0Google Scholar
  8. 8.
    Rintala RJ, Pakarinen MP (2008) Imperforate anus: long- and short-term outcome. Semin Pediatr Surg 17:79–89 (review)CrossRefPubMedGoogle Scholar
  9. 9.
    Rintala RJ (2009) Congenital anorectal malformations: anything new? J Pediatr Gastroenterol Nutr 48:S79–S82CrossRefPubMedGoogle Scholar
  10. 10.
    Devadas D, Curry J (2007) Don’t be fooled by meconium. Arch Dis Child Educ Pract Ed. 92:ep135–ep138CrossRefPubMedGoogle Scholar
  11. 11.
    Chirdan LB, Ameh EA (2001) Neonatal intestinal perforation in a developing country. Ann Trop Paediatr 21:26–28CrossRefPubMedGoogle Scholar
  12. 12.
    Acosta Farina D Jr, Ortiz-Interian CJ, Acosta Vasquez CE Sr (1993) Imperforate anus, delayed presentation in a 7-year-old girl. J Pediatr Surg 28:962–964Google Scholar
  13. 13.
    Kumar V, Chattopdhay A, Vepakomma D, Shenoy D, Bhat P (2005) Anovestibular fistula in adults: a rare presentation. Int Surg 90:27–29PubMedGoogle Scholar
  14. 14.
    Digray NC, Mengi Y, Goswamy HL, Thappa DR (2001) Colorectal perforations in neonates with anorectal malformations. Pediatr Surg Int 17:42–44CrossRefPubMedGoogle Scholar
  15. 15.
    Khope S, Vivekanand S (1989) Neonatal colonic perforation with low anorectal anomaly–(a case report). J Postgrad Med 35:226–227PubMedGoogle Scholar
  16. 16.
    Haas L (1958) Neonatal perforations of the colon. Arch Dis Child 33:362–363CrossRefPubMedGoogle Scholar
  17. 17.
    Haider N, Fisher R (2007) Mortality and morbidity associated with late diagnosis of anorectal malformations in children. Surgeon 5:327–330CrossRefPubMedGoogle Scholar
  18. 18.
    Peña A, Devries PA (1982) Posterior sagittal anorectoplasty: important technical considerations and new applications. J Pediatr Surg 17:796–811CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Department of Paediatric SurgeryChildren’s University HospitalDublinIreland
  2. 2.National Children’s Research CentreOur Lady’s Children’s HospitalDublinIreland

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