Eur J Pediatr Surg
DOI: 10.1055/a-2065-9071
Original Article

Biopsy Diagnosis of Hirschsprung's Disease Using a Single Excisional Biopsy Based on the Anorectal Line

Masahiro Takeda
1   Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
Takanori Ochi
1   Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
Hiroyuki Koga
1   Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
Koichi Tsuboi
1   Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
Atsushi Arakawa
2   Department of Human Pathology, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
Geoffrey J. Lane
1   Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
Atsuyuki Yamataka
1   Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Bunkyo-ku, Tokyo, Japan
› Author Affiliations


Introduction A biopsy protocol for diagnosing Hirschsprung's disease (HD) in children using the anorectal line (ARL).

Materials and Methods The ARL was adopted for diagnosing HD in 2016 using two excisional submucosal rectal biopsies performed at different levels, sequentially; the first just above the ARL and the second, further proximal (2-ARL). Currently, only the first-level biopsy is performed (1-ARL) and examined intraoperatively. Management was observation if normoganglionic, pull-through if aganglionic, and a second-level biopsy if hypoganglionic. Hypoganglionosis was considered physiologic if the second-level biopsy was normoganglionic and pathologic if hypoganglionic. Colon caliber change and bowel obstructive symptoms reflect the severity of hypoganglionosis.

Results For 2-ARL (n = 54), results were: normoganglionosis (n = 31/54; 57.4%), aganglionosis (n = 19/54; 35.2%), and hypoganglionosis (n = 4/54; 7.4%); physiologic (n = 3/54; 5.6%) and pathologic (n = 1/54; 1.9%). Normoganglionosis and aganglionosis were always duplicated in 2-ARL (kappa = 1.0). For 1-ARL (n = 36), results were: normoganglionosis (n = 17/36; 47.2%), aganglionosis (n = 17/36; 47.2%), and hypoganglionosis (n = 2/36; 5.6%). Second-level biopsies were normoganglionic (physiologic: n = 1) and hypoganglionic (pathologic: n = 1). All normoganglionic cases, except one, resolved conservatively. All aganglionic cases had pull-through with HD confirmed on histopathology. Both pathologic hypoganglionic cases had caliber change and severe obstructive symptoms as definitive indications for pull-through with hypoganglionosis of the entire rectum confirmed on histopathology. Physiologic hypoganglionic cases were observed and currently have regular defecation.

Conclusion Because the ARL is an objective functional, neurologic, and anatomic demarcation, normoganglionosis and aganglionosis can be diagnosed accurately with a single excisional biopsy. Only hypoganglionosis requires a second-level biopsy.

Publication History

Received: 21 March 2023

Accepted: 28 March 2023

Accepted Manuscript online:
30 March 2023

Article published online:
16 May 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

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