Lu M. Clinicopathologic features of allied disorders of Hirschsprung disease and status update. World J Gastrointest Surg 2025; 17(8): 104954 [DOI: 10.4240/wjgs.v17.i8.104954]
Corresponding Author of This Article
Miao Lu, Professor, Department of Pathology, Pingshan District Central Hospital of Shenzhen, No. 51 Julongshan Road, Kengzi Subdistrict, Shenzhen 518100, Guangdong Province, China. lumiaolm0725@163.com
Research Domain of This Article
Pathology
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastrointest Surg. Aug 27, 2025; 17(8): 104954 Published online Aug 27, 2025. doi: 10.4240/wjgs.v17.i8.104954
Clinicopathologic features of allied disorders of Hirschsprung disease and status update
Miao Lu
Miao Lu, Department of Pathology, Pingshan District Central Hospital of Shenzhen, Shenzhen 518100, Guangdong Province, China
Author contributions: Lu M contributed to the concept, study design, definition of intellectual content, manuscript review, data acquisition, data analysis, statistical analysis, manuscript preparation, and manuscript editing.
Conflict-of-interest statement: The author reports no relevant conflicts of interest for this article.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Miao Lu, Professor, Department of Pathology, Pingshan District Central Hospital of Shenzhen, No. 51 Julongshan Road, Kengzi Subdistrict, Shenzhen 518100, Guangdong Province, China. lumiaolm0725@163.com
Received: January 8, 2025 Revised: April 29, 2025 Accepted: June 10, 2025 Published online: August 27, 2025 Processing time: 230 Days and 1 Hours
Abstract
Allied disorders of Hirschsprung diseases (ADHDs) have abnormal enteric ganglia and symptoms that are similar to congenital megacolon. The classification of ADHDs includes neuronal dysplasia, enteric gangliocytomatosis, isolated ganglion dysfunction, immature ganglion, and internal anal sphincter achalasia. The diagnosis, treatment and prognosis of ADHDs are distinct from congenital megacolon. This review summarizes the classification, epidemiology, pathogenesis, gene basis, pathology, diagnosis, treatment, and prognosis of ADHDs based on existing diagnostic criteria.
Core Tip: While allied disorders of Hirschsprung disease share clinical similarities with Hirschsprung’s disease (Q43.1), the pathologic manifestation and therapeutic approaches are distinct from Hirschsprung’s disease. To address the challenges in pathological diagnosis, it is necessary to develop a consensus on a reliable classification methods at the international level. First, the global standard diagnostic criteria should be established, and artificial intelligence technology can be used to perform deep learning on global data. These advances will help overcome diagnostic obstacles and enhance the accuracy of pathologic diagnosis. To define clinical guidelines, additional data collection, follow-up, and analysis are necessary to acquire improved treatment methods, prognosis, etiology, and genetic investigations.
