Diagnosis of Hirschsprung's disease.

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.