Diagnosing Hirschsprung Disease in Children Older than Six Months of Age: Complications After Rectal Biopsy, Insight in Final Diagnoses and Factors Associated With Hirschsprung Disease

jpedsurg.org

It is challenging to distinguish between patients with Hirschsprung disease (HD) and patients with other causes of defecation problems based on clinical presentation in patients older than six months. Pathological examination of the rectal biopsy is the gold standard for the diagnosis of HD. The aim of this study was to gain insight into 1) the prevalence and severity of complications following rectal biopsy, 2) the final diagnoses of patients referred for biopsy, and 3) clinical factors associated with HD in patients older than six months.

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Article · Nov 2024 · 1 min read

In brief

This study examines the diagnostic workup for Hirschsprung disease in children over six months, focusing on rectal biopsy complications, differential diagnoses in patients with defecation problems, and clinical predictors that distinguish HD from other causes of chronic constipation.

Rectal biopsy remains the gold standard for diagnosing Hirschsprung disease in children over 6 months despite clinical overlap with other causes.
Clinical presentation alone cannot reliably distinguish HD from functional constipation in older infants and children.
Study identifies complication rates and safety profile of rectal biopsy procedures in this age group.
Analysis reveals distribution of final diagnoses among children referred for HD evaluation, informing differential diagnosis.
Specific clinical factors can help predict which children are more likely to have confirmed Hirschsprung disease.

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