Paeds Vivas · gastroenterology-hepatology-and-nutrition
Hirschsprung disease — branching viva
Branching viva from a term neonate with delayed passage of meconium, through the recognition of Hirschsprung disease, the embryology of neural crest cell migration, the suction rectal biopsy with calretinin staining, the pull-through operations, and a pivot to a child presenting with enterocolitis testing the emergency recognition and treatment.
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Opening — framing the problem
The examiner begins: a full-term male neonate has not passed meconium at 52 hours. He is feeding poorly and his abdomen is distended. What is your first thought? [1]
My first thought is that failure to pass meconium within 48 hours in a term neonate is abnormal, and the combination with distension and poor feeding points to a low intestinal obstruction. The diagnosis I must exclude is Hirschsprung disease, because missing it risks the child developing Hirschsprung-associated enterocolitis, which is the leading cause of death. I would assess and stabilise the child and arrange a suction rectal biopsy. [1] [6]
References7ShowHide
- [1]Kyrklund K; Sloots CEJ; de Blaauw I; et al ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis, 2020.PMID 32586397
- [2]Gosain A; Frykman PK; Cowles RA; et al Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int, 2017.PMID 28154902
- [5]Green N; Cromie W; Griffiths DM; et al Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease. Pediatr Surg Int, 2022.PMID 36171348
- [6]Allen AR; Azmy SE; Munro FD; et al Accuracy of Suction Rectal Biopsy for Diagnosis of Hirschsprung's Disease in Neonates. Eur J Pediatr Surg, 2019.PMID 30068006
- [9]Davidson JR; Quan A; Batey M; et al Comparative cohort study of Duhamel and endorectal pull-through for Hirschsprung's disease. BJS Open, 2022.PMID 35143630
- [10]Haikal Z; Soriano MM; Otero N; et al Accuracy of transition zone in contrast enema to predict intraoperative aganglionosis level in patients with Hirschsprung disease. BMC Res Notes, 2020.PMID 32098631
- [12]Amiel J; Sproat-Emison E; Garcia-Barcelo M; et al Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet, 2008.PMID 17965226