The diagnostic value of acetylcholinesterase/butyrylcholinesterase ratio in Hirschsprung's disease

Aganglionosis of large bowel (Hirschsprung's disease; HD) is associated with higher acetylcholinesterase activity (AChE activity). Occasionally, especially in the neonatal period, the AChE activity may not be of diagnostic value. The authors previously reported that simultaneous estimation of butyrylcholinesterase activity (BChE activity) and the determination of AChE/BChE ratio may have discriminatory diagnostic value. They extended this finding to 31 cases of HD, in 16 of which resected tissue was available for study. All cases had histologic confirmation of aganglionosis. The AChE/BChE ratio was found to be higher than 2.0, with the exception of a case in which the biopsy weight was low (i.e., less than 3 mg), even when the AChE activity was normal or borderline. The estimation of AChE/BChE ratio is easy, rapid, and, in the author's experience, of discriminatory diagnostic value.