Clinical evaluation of diagnostic methods for Hirschsprung's disease

Abstract

The results of a comparative study of diagnostic methods for Hirschsprung's disease are reported. Since December 1979, the authors have studied four new methods. First, anorectal manometry, a simple, safe, and atraumatic method with a high diagnostic success rate of over 92.6%. Patients with Hirschsprung's disease have no relaxation reflex. By using manometry, one may differentiate idiopathic megacolon from ultrashort segment aganglionosis, but there is a high false-negative rate (63.3%) in normal newborns. Second, rectal mucosal acetylcholinesterase (AChE) histochemistry had a high success rate of 96.6% in 58 cases of Hirschsprung's disease. Two cases showed false-negative results that seemed to be related to incorrect manipulation. In 6 cases of neonatal Hirschsprung's disease, the success rate was 100%. Third, erythrocyte AChE activity was assessed in 59 newborns and children with Hirschsprung's disease; in 45, this activity was 92.11 ± 9.66 U/ml, which was higher than that of 127 normal controls (P < 0.001). The erythrocyte AChE activity of 14 neonates with Hirschsprung's disease was 73.31 ± 8.82 U/ml, higher than that of 32 normal controls (50.32 ± 8.54 U/ml, P < 0.0001). The results showed that erythrocyte AChE activity was proportional to the length of aganglionic bowel and its activity was prone to decrease after resection of the abnormal segment. The erythrocyte AChE assay may be used as an initial screening test in cases of suspected Hirschsprung's disease. Fourth, have not yet had enough experience with electromyography to evaluate it. The authors believe that by combining these different methods, a correct diagnosis of Hirschsprung's disease can be made without a full-thickness biopsy, even in atypical and difficult cases.