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Paeds Vivasgastroenterology-hepatology-and-nutrition

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.

branching clinical structured oral3 min readVerification in progress

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
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Study tools

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
You are the paediatric registrar in the neonatal unit. The examiner asks you to work through a full-term male neonate who has not passed meconium at 52 hours of life, and then an infant with known Hirschsprung disease who presents with fever and explosive diarrhoea. Information is released in stages.

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]

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References7ShowHide
  1. [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. [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
  3. [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
  4. [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
  5. [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
  6. [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
  7. [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
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