A histopathological examination is essential for the diagnosis of Hirschsprung’s disease (HD), which is characterized by the absence of enteric ganglion cells in the affected segment. Because the aganglionic narrowed segment visually always includes the rectum, the biopsy of the distal rectum of patients suspected of having HD could reveal the presence or absence of ganglion cells. Full-thickness biopsy (FTB) with hematoxylin and eosin (HE) staining was initially performed, and rectal mucosal biopsy (RMB) combined with acetylcholinesterase (AChE) staining was introduced as a noninvasive technique later. Currently, FTB with HE staining; RMB with HE staining and immunostaining such as calretinin, S-100, and so on; and RMB with AChE staining are selected based on each institutional facility and preference. To avoid performing an inadequate biopsy, the precise understanding of the rectal anatomy is essential regardless of the technique. In this chapter, the introduction of the history, the anatomy, the indication, the techniques, and the complications of the rectal biopsy are conducted. The most important factor performing a biopsy is obtaining an enough size of samples with an adequate and consistent level.
Hematoxylin and eosin
Intestinal neuronal dysplasia type B
Rectal mucosal biopsy
Rectal punch biopsy
Rectal suction biopsy
- 11.Zani A, Eaton S, Morini F, Puri P, Rintala R, Heurn EV, Lukac M, Bagolan P, Kuebler JF, Friedmacher F, Wijnen R, Tovar JA, Hoellwarth ME, Pierro A, EUPSA Network Office. European Paediatric Surgeons’ Association Survey on the management of Hirschsprung disease. Eur J Pediatr Surg. 2017;27:96–101.CrossRefGoogle Scholar
- 15.Kume K, Tanaka K, Inokuchi K. Clinicopathological and basic study on diagnosis and pathogenesis of Hirschsprung’s disease. J Jpn Soc Pediatr Surg. 1971;6:479–97.. (In Japanese)Google Scholar
- 19.http://ssp-inc.com/products/pediatric-products/rbi2-suction-rectal-biopsy-system/. Accessed 4 Feb 2018.
- 21.Yoshimaru K, Kinoshita Y, Yanagi Y, Obata S, Jimbo T, Iwanaka T, Takahashi Y, Esumi G, Miyata JA, Matsuura T, Izaki T, Taguchi T. The evaluation of rectal mucosal punch biopsy in the diagnosis of Hirschsprung’s disease: a thirty-year experience of 954 patients. Pediatr Surg Int. 2017;33:173–9.CrossRefGoogle Scholar
- 44.Borchard F, Meier-Ruge W, Wiebecke B, et al. Innervationsstörungen des Dickdarms. Klassifikation und Diagnostik Pathologe. 1991;12:171–4.Google Scholar
- 50.López Ruiz JA, Tallón Aguilar L, et al. Hirschsprung disease with debut in adult age as acute intestinal obstruction: case report. Rev Esp Enferm Dig. 2016;11:108.Google Scholar