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

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.