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Hirschsprung's disease: the importance of early diagnosis
Aline Franzolli Neumann1, Patricia Picciarelli de Lima2, Ana Maria Andrello Gonçalves Pereira de Melo3
1Department of Pathology - Hospital das Clínicas - Faculdade de Medicina - Universidade de São Paulo, São Paulo/SP - Brazil.
Insights
Hirschsprung disease (HD), a congenital intestinal aganglionosis, can lead to life-threatening enterocolitis. Early diagnosis is crucial, especially when associated with conditions like oligohydramnios, to prevent fatal complications.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Developmental Biology
Background:
- Congenital intestinal aganglionosis, or Hirschsprung disease (HD), results from failed enteric nervous system development, lacking nerve cells in the intestinal wall.
- HD's severity varies based on embryonic development stage; associated conditions like trisomy 21 and other malformations are common.
- Enterocolitis is a severe, potentially fatal complication of HD, and oligohydramnios is frequently linked to gastrointestinal malformations.
Observation:
- A newborn presented with delayed meconium passage, followed by enterocolitis treated successfully.
- The infant experienced a fatal relapse of enterocolitis, leading to septic shock despite awaiting Hirschsprung disease confirmation.
- Autopsy revealed a short segment of congenital intestinal aganglionosis without other malformations.
Findings:
- The case highlights a fatal outcome of enterocolitis in a newborn with Hirschsprung disease.
- Autopsy confirmed congenital intestinal aganglionosis, a short-segment form, in the deceased infant.
- The patient also had oligohydramnios, underscoring the association between HD and this condition.
Implications:
- Emphasizes the critical need for early Hirschsprung disease diagnosis, particularly with delayed meconium passage (≥48 hours).
- Stresses vigilance for enterocolitis risk factors in infants with suspected or confirmed HD.
- This case illustrates the complex interplay between Hirschsprung disease, enterocolitis, and oligohydramnios in neonates.
Abstract:
Congenital intestinal aganglionosis, also called Hirschsprung disease (HD), is defined as the absence of ganglionic cells in the myenteric (Auerbach) and submucosal (Meissner) plexus, due to a failure in the enteric nervous system development. The extent of intestinal involvement may vary according to the age of embryo development in which this failure occurs. It is not unusual for other malformations to be present, as well as chromosomal trisomies, manly trisomy 21. Enterocolitis is a frequent, life threatening, and feared complication of HD. Moreover, oligohydramnios is a well-known condition frequently associated with malformations, including those related to the gastrointestinal tract. The authors report the case of a newborn that presented a delayed meconium passage. On the third day of life, he presented enterocolitis-the outcome of which was favorable with clinical treatment. While the diagnosis of HD was awaiting confirmation, the enterocolitis relapsed and this time he died due to septic shock. The autopsy findings were compatible with a short segment of congenital intestinal aganglionosis. No other malformation was found. The authors call attention for an early diagnosis of HD whenever the meconium passage does not happen for at least 48 hours and for the risk factors of enterocolitis. This case also demonstrates HD associated with oligohydramnios.
