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Symptom

  • Masayuki KubotaEmail author
Chapter

Abstract

The typical symptomatic presentations of Hirschsprung’s disease (HD) are a delayed passage of meconium and abdominal distension with bilious vomiting. The characteristics of HD patients are male predominance of 3–4:1 and full-term neonates weighing more than 2500 g. In term neonates, the passage of meconium is usually observed within 24 h of birth. Therefore, a delayed passage of meconium is an important presenting sign of HD in term neonates. However, this phenomenon is frequently found in other clinical conditions, such as preterm infants, chronic constipation, meconium ileus, and congenital small intestinal obstruction. Even though the association of HD in preterm infants is infrequent (5%), a careful diagnostic work-up is necessary to exclude HD in preterm neonates. A majority of HD patients are diagnosed in the neonatal and early infantile period. However, a certain population of HD patients are diagnosed after the infantile period. Furthermore, there are cases that first present with signs of enterocolitis, toxic megacolon, and intestinal perforation. This symptomatic diversity necessitates careful attention in the diagnosis of HD. In cases of total colonic aganglionosis, a tendency toward a later-than-expected diagnosis is observed, probably due to the different genetic background from that of short-segment HD. An association with Down syndrome is frequent in HD, and this association is likely to worsen the pre- and post-operative clinical presentations. Food allergy and congenital hypothyroidism necessitate careful attention for the differential diagnosis of HD in the neonatal period.

Keywords

Delayed passage of meconium Abdominal distension Bilious vomiting Down syndrome Enterocolitis 

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of Pediatric SurgeryNiigata University Graduate School of Medical and Dental SciencesNiigata CityJapan

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