Full-thickness rectal biopsies in diagnosis of Hirschsprung disease: 13 years of experience of a single center

Abstract

OBJECTIVE: An experience regarding full-thickness rectal biopsies (FTRB) indications and results is presented. METHODS: The records of patients who underwent FTRB between January 2010 and January 2022 were retrospectively reviewed. RESULTS: 107 patients were included. There were 66 men (61.6%) and 41 women (38.3%). The median age at biopsy was 15 (1-196) months. FTRB was performed in 81 patients who were unable to pass meconium in the first 48 hours or had intractable constipation. A stoma was performed in 26 patients before the rectal biopsy. Contrast colon radiography was conducted in 61 patients and/or anorectal manometry in 32 patients. Of the biopsies, 74 were full-thickness while 33 were not. Biopsies were repeated in 12 patients. Of the 49 (45%) patients with aganglionic specimens, data about nerve hypertrophy was reported in 37. Among these, 33 had nerve hypertrophy and 4 did not. A definitive surgery was performed in 44 of the 49 patients diagnosed with Hirschsprung disease (HD). Complications were observed in 7 (6.5%) of the patients. CONCLUSION: HD was histopathologically diagnosed. Biopsies that are not full-thickness can be of value when using immunohistochemistry stains.