Abstract
Purpose: The pathological diagnosis of Hirschsprung disease (HD) by acetylcholinesterase histochemistry (AChEH) using rectal suction biopsies is widely established and has the highest accuracy. However, several recent reports have described the diagnostic utility of calretinin immuno histochemistry (CRI) for HD, in which the ganglion cells and intrinsic nerve fibers in the submucosal and myenteric plexus of a normal colon are tested positive. In this study, we assessed the diagnostic value of CRI for HD compared with AChEH using rectal suction biopsies.
Methods: We conducted a retrospective review of the diagnoses using CRI and AChEH sections of rectal suction biopsies for suspected HD between April 2011 and March 2012 at our institute.
Results: A total of 8 cases were collected: four surgical cases of neonates, one repeated surgical case of a three-year-old girl, and three non-surgical cases of infants. All five surgical cases were definitely diagnosed as HD based on their surgical specimens. In addition, rectal suction-biopsy sections were AChEH-positive and CRI-negative. However, in two of these five cases that showed inconsistent results compared with their first biopsies (both AChEH- and CRInegative), sequential rectal suction biopsies were subsequently conducted. In contrast, in the three non-surgical cases, the first biopsy confirmed the absence of HD with AChEH-negative and CRI-positive specimens.
Conclusions: CRI may serve as a useful adjunctive means to diagnose HD with rectal suction biopsy, particularly when there is a discrepancy between a clinical diagnosis and the AChEH-negative results.
