In a neonate with suspected meconium ileus, which test is considered definitive for the diagnosis of Hirschsprung disease?

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In the evaluation of a neonate with suspected meconium ileus, a rectal suction biopsy is the definitive test for diagnosing Hirschsprung disease. Hirschsprung disease is characterized by the absence of ganglion cells (aganglionosis) in the bowel wall, leading to a lack of peristalsis in the affected segment. The rectal biopsy allows for histological examination of the tissue to confirm the absence of ganglion cells.

This test is essential because it provides direct evidence of the pathological changes associated with Hirschsprung disease.

While other imaging studies might provide clues or support the diagnosis (such as an abdominal radiograph or a contrast enema), they cannot definitively confirm or rule out the presence of aganglionic segments. Anorectal manometry can assess functional aspects of bowel motility, but it does not provide the histological confirmation needed for a definitive diagnosis. Thus, a rectal suction biopsy remains the gold standard for diagnosing Hirschsprung disease in a neonate suspected of having this condition.

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