PURPOSE: The diagnosis of Hirschsprung's disease (HD) remains challenging. The identification of ganglion cells is difficult and acetycholine esterase (AChE) staining can be subject to a great variability, particularly in the neonatal period (<8 weeks). Nerve trunks greater than 40 µm are considered to be predictive for HD. The aim of this study was to evaluate the usefulness of measuring nerve trunk size in the newborn with HD.
METHODS: Out of 292 biopsies 69 could be reanalyzed by three independent researchers. 40 µm was used as cutoff point for nerve trunk size. They were subdivided into three groups: (a) diagnosis of HD certain at the first biopsy, (b) no HD and (c) diagnosis of HD remains doubtful and re-biopsy taken.
RESULTS: In 87 % of group A nerve trunk size was ≥ 40 µm (SD 13.8). In 84 % of group B trunk size was < 40 µm (SD 16.2). In group C only 60 % of the patients showed a positive correlation between final diagnosis and nerve trunk size.
CONCLUSION: Using 40 µm as the cutoff point gave 13 % false-negative and 16 % false-positive cases. Measurement of the nerve trunk in the neonatal period does not seem to be a reliable method for detecting HD.