From the Research
Diagnosing Hirschsprung's disease should be done using rectal suction biopsy as the gold standard diagnostic test, with a mean sensitivity of 96.84% and mean specificity of 99.42%, as reported in the most recent and highest quality study 1. The diagnostic process begins with a thorough clinical history and physical examination, followed by specific tests.
- Initial suspicion typically arises from symptoms like failure to pass meconium within 48 hours of birth, abdominal distension, vomiting, and chronic constipation in infants or children.
- Contrast enemas may show a transition zone between the normal and affected bowel.
- Rectal suction biopsies are considered the gold standard diagnostic test, where tissue samples are examined for the absence of ganglion cells in the submucosal and myenteric plexuses.
- Full-thickness rectal biopsies may be needed if suction biopsies are inconclusive.
- Anorectal manometry can be helpful, particularly in older children, by demonstrating absence of the rectoanal inhibitory reflex.
- Additional tests may include abdominal X-rays to show dilated bowel loops and genetic testing for associated syndromes. The use of acetylcholinesterase staining on fresh-frozen material has been found to have slightly higher rates of sensitivity and specificity when compared with hematoxylin and eosin only, as reported in 2. However, the most recent and highest quality study 1 provides the strongest evidence for the use of rectal suction biopsy in diagnosing Hirschsprung's disease, with a low overall complication rate of 0.65% and a significant correlation between the absence of ganglion cells and the diagnosis of Hirschsprung's disease. Early diagnosis is crucial as Hirschsprung's disease can lead to serious complications like enterocolitis if left untreated, and definitive treatment involves surgical removal of the aganglionic segment of bowel.