Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study

Background: Hirschsprung's disease is a congenital disorder characterized by the absence of enteric ganglion cells. The diagnostic gold standard for Hirschsprung's disease is a rectal mucosal biopsy; however, its accuracy in neonates and young infants remains limited. Although less invasiv...

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Main Authors: Yohei Sanmoto, Atsuki Naoe, Yudai Goto, Mikihiro Inoue, Kouji Masumoto
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Global Pediatrics
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Online Access:http://www.sciencedirect.com/science/article/pii/S2667009725000132
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author Yohei Sanmoto
Atsuki Naoe
Yudai Goto
Mikihiro Inoue
Kouji Masumoto
author_facet Yohei Sanmoto
Atsuki Naoe
Yudai Goto
Mikihiro Inoue
Kouji Masumoto
author_sort Yohei Sanmoto
collection DOAJ
description Background: Hirschsprung's disease is a congenital disorder characterized by the absence of enteric ganglion cells. The diagnostic gold standard for Hirschsprung's disease is a rectal mucosal biopsy; however, its accuracy in neonates and young infants remains limited. Although less invasive, the diagnostic performance of anorectal manometry (ARM) in these populations remains controversial. We evaluated the diagnostic performance of ARM in patients with Hirschsprung's disease by age group. Methods: This multicenter retrospective study compared the diagnostic outcomes of ARM and biopsy across three age categories: neonates (<28 days), infants ≤6 months, and children aged >6 months. Additionally, logistic regression analysis was performed to assess changes in the probability of accurate diagnosis and exclusion of Hirschsprung's disease by ARM with increasing age. Results: Overall, 113 patients were included in this study. The median patient age (range) at the time of ARM was 103 (3–3913) days. Most patients (83.2 %) underwent ARM under intravenous sedation or inhalation anesthesia. ARM revealed higher sensitivity than did biopsy in neonates (100 % vs. 45.5 %, P = 0.012) and infants aged ≤6 months (97.1 % vs. 79.6 %, P = 0.022). With increasing age, the probability of accurate diagnosis for Hirschsprung's disease by ARM significantly decreased (P = 0.031), although the probability of accurate exclusion showed no significant change (P = 0.35). Conclusion: ARM, when performed under appropriate sedation or anesthesia, yields superior sensitivity for diagnosing Hirschsprung's disease in young children than does biopsy. However, diagnostic accuracy decreases with age, requiring careful interpretation in patients aged >6 months.
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spelling doaj-art-ee8ea4c85cef4e9fb181f8b6c081c53e2025-08-20T03:48:14ZengElsevierGlobal Pediatrics2667-00972025-06-011210025510.1016/j.gpeds.2025.100255Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective studyYohei Sanmoto0Atsuki Naoe1Yudai Goto2Mikihiro Inoue3Kouji Masumoto4Department of Pediatric Surgery, University of Tsukuba Hospital, Tsukuba, Japan; Corresponding author at: Department of Pediatric Surgery, University of Tsukuba Hospital 2-1-1 Amakubo Tsukuba-shi, 305-8576, Japan.Department of Pediatric Surgery, Fujita Health University, Toyoake, JapanDepartment of Pediatric Surgery, University of Tsukuba Hospital, Tsukuba, JapanDepartment of Pediatric Surgery, Fujita Health University, Toyoake, JapanDepartment of Pediatric Surgery, University of Tsukuba Hospital, Tsukuba, JapanBackground: Hirschsprung's disease is a congenital disorder characterized by the absence of enteric ganglion cells. The diagnostic gold standard for Hirschsprung's disease is a rectal mucosal biopsy; however, its accuracy in neonates and young infants remains limited. Although less invasive, the diagnostic performance of anorectal manometry (ARM) in these populations remains controversial. We evaluated the diagnostic performance of ARM in patients with Hirschsprung's disease by age group. Methods: This multicenter retrospective study compared the diagnostic outcomes of ARM and biopsy across three age categories: neonates (<28 days), infants ≤6 months, and children aged >6 months. Additionally, logistic regression analysis was performed to assess changes in the probability of accurate diagnosis and exclusion of Hirschsprung's disease by ARM with increasing age. Results: Overall, 113 patients were included in this study. The median patient age (range) at the time of ARM was 103 (3–3913) days. Most patients (83.2 %) underwent ARM under intravenous sedation or inhalation anesthesia. ARM revealed higher sensitivity than did biopsy in neonates (100 % vs. 45.5 %, P = 0.012) and infants aged ≤6 months (97.1 % vs. 79.6 %, P = 0.022). With increasing age, the probability of accurate diagnosis for Hirschsprung's disease by ARM significantly decreased (P = 0.031), although the probability of accurate exclusion showed no significant change (P = 0.35). Conclusion: ARM, when performed under appropriate sedation or anesthesia, yields superior sensitivity for diagnosing Hirschsprung's disease in young children than does biopsy. However, diagnostic accuracy decreases with age, requiring careful interpretation in patients aged >6 months.http://www.sciencedirect.com/science/article/pii/S2667009725000132Anorectal manometryDiagnosisHirschsprung's diseaseInfantsNeonatesRectal mucosal biopsy
spellingShingle Yohei Sanmoto
Atsuki Naoe
Yudai Goto
Mikihiro Inoue
Kouji Masumoto
Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study
Global Pediatrics
Anorectal manometry
Diagnosis
Hirschsprung's disease
Infants
Neonates
Rectal mucosal biopsy
title Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study
title_full Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study
title_fullStr Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study
title_full_unstemmed Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study
title_short Anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for Hirschsprung's disease in neonates and young infants: A multicenter retrospective study
title_sort anorectal manometry under adequate sedation or anesthesia as a highly reliable diagnostic tool for hirschsprung s disease in neonates and young infants a multicenter retrospective study
topic Anorectal manometry
Diagnosis
Hirschsprung's disease
Infants
Neonates
Rectal mucosal biopsy
url http://www.sciencedirect.com/science/article/pii/S2667009725000132
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