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Abstract

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.

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Abbreviations

AChE:

Acetylcholinesterase

HD:

Hirschsprung’s disease

HE:

Hematoxylin and eosin

IND-B:

Intestinal neuronal dysplasia type B

RMB:

Rectal mucosal biopsy

RPB:

Rectal punch biopsy

RSB:

Rectal suction biopsy

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Yoshimaru, K. (2019). Rectal Biopsy. In: Taguchi, T., Matsufuji, H., Ieiri, S. (eds) Hirschsprung’s Disease and the Allied Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-13-3606-5_12

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  • DOI: https://doi.org/10.1007/978-981-13-3606-5_12

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