Background: The acetylcholinesterase (AChE) histochemical staining of intestinal mucosal-submucosal biopsy specimens is believed to be the most reliable diagnostic method for Hirschsprung's disease (HD). The aim of our study was to evaluate advantages and disadvantages of this method for HD diagnosis in infants and neonates.
Material and methods: The results of AChE histochemistry of rectal biopsy specimens, obtained from 11 neonates and 29 infants treated in the Clinic of Pediatric Surgery, Hospital of the Lithuanian University of Health Sciences, from 1991 to 2010 were analyzed. AChE activity of neural structures was evaluated using Karnovsky-Roots method modified by El-Badawi and Schenk.
Results: Two neonates were diagnosed with HD. The diagnosis was not confirmed in 9 cases, but clinical symptoms progressed in 3 cases, and HD was diagnosed after the repeated biopsy performed in infancy. The results of primary biopsy were rated as false negative. Test sensitivity and specificity in neonates were 40.0% and 100%, respectively. A total of 21 infants were diagnosed with HD. All of them underwent surgery. The diagnosis of HD was confirmed in 20 cases; in one case, intestinal neuronal dysplasia type B was diagnosed. The diagnosis was not confirmed in 8 cases. In infants, the test had a sensitivity of 100% and a specificity of 88.8%.
Conclusions: The analysis of AChE activity in rectal biopsy specimens is a reliable method for diagnosing HD in infancy. This test is less valuable in neonates. If test results are negative, infants should be observed, and if symptoms persist, the biopsy should be repeated at the age of 3 months. Rectal biopsy specimens in neonates should include mucosa and submucosa.