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Diagnosis of Hirschsprung's disease
Insights
Diagnosing Hirschsprung's disease (congenital intestinal aganglionosis) requires careful evaluation. Rectal biopsy for ganglia and acetylcholinesterase activity (ACE) is crucial, though superficial samples can be problematic.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Pathology
Background:
- Hirschsprung's disease (congenital intestinal aganglionosis, CIA) is a congenital condition affecting the large intestine.
- Accurate diagnosis in infants and children is critical for timely intervention.
Purpose of the Study:
- To prospectively evaluate the accuracy of diagnostic methods for Hirschsprung's disease.
- To compare the efficacy of barium enema, rectal biopsy (ganglia and ACE), and anal manometry.
Main Methods:
- Prospective study of 60 infants and children.
- Diagnostic tests included barium enema, rectal mucosal biopsy (for ganglia and acetylcholinesterase activity - ACE), and anal manometry.
- Clinical history, focusing on neonatal ileus, was also assessed.
Main Results:
- Rectal biopsy for ganglia was non-confirmatory in nearly half of non-CIA cases due to superficial sampling.
- ACE assessment, barium enema, and manometry were inconclusive in 10%, 16%, and 22% of cases, respectively.
- Neonatal history was falsely positive in 20% of cases.
Conclusions:
- Superficial rectal biopsies can hinder accurate diagnosis of Hirschsprung's disease.
- Multiple diagnostic modalities show limitations, emphasizing the need for comprehensive evaluation.
- Accurate diagnostic techniques are essential for managing congenital intestinal aganglionosis.
Abstract:
A prospective study of the accuracy of various diagnostic methods used in the detection of Hirschsprung's disease (syn. congenital intestinal aganglionosis, CIA) in 60 consecutive infants and children was done during the period 1972--76. Every patient underwent a barium enema, a rectal mucosal biopsy, which was prepared for both the demonstration of ganglia and for the assessment of acetylcholinesterase activity (ACE), and anal manometry was performed. In evaluating the clinical history, special emphasis was placed on signs of neonatal ileus. In the group of 10 patients with a definite diagnosis of CIA the results were almost uniform. In the 'non-CIA' group the search for ganglia in biopsy material proved non-confirmatory in nearly half of the cases studied due to the fact that specimens were taken too superficially. The findings pertaining to ACE, barium enema and the results of manometry were at variance or inconclusive of a final diagnosis in 10, 16 and 22% of the performed studies, respectively. The value given to neonatal history proved to be of the same order, i.e., 20% proved to be falsely positive.