Radiological Imaging in Hirschsprung's Disease, Its Variants, and Colorectal Motility Disorders: A Comprehensive Review of Diagnostic Findings and Interventional Applications

Abstract Objectives: To synthesize current evidence on radiological imaging modalities used in the assessment of Hirschsprung’s disease (HD), its variants, pseudo-Hirschsprung’s conditions, and colorectal motility disorders, highlighting characteristic findings, diagnostic pathways, and interventional procedures. Design: Narrative review of radiological techniques and their diagnostic utility in congenital and acquired colorectal dysmotility syndromes. Methods: Data Sources: Peer-reviewed literature, clinical guidelines, and radiological case series retrieved from PubMed, Radiopaedia, and institutional imaging protocols. Eligibility Criteria: Studies and reviews describing imaging findings in HD (short-segment, long segment, total colonic aganglionosis, ultrashort segment), pseudo-Hirschsprung’s (e.g., internal anal sphincter achalasia), and colorectal motility disorders (e.g., chronic intestinal pseudo-obstruction, slow-transit constipation). Results:Contrast enema remains the cornerstone for identifying the transition zone and rectosigmoid ratio abnormalities in HD.Ultrasound shows promise in detecting rectal wall thickening and muscularis hypertrophy.MRI and CT aid in complex cases and postoperative evaluation.Nuclear scintigraphy and fluoroscopic motility studies differentiate neuropathic from myopathic dysmotility.Interventional radiology supports image-guided biopsy, decompression, and botulinum toxin injection in selected cases. Conclusions: Radiological imaging provides critical anatomical and functional insights in the diagnosis and management of HD and related disorders. A multimodal approach enhances diagnostic accuracy, especially in atypical presentations and variant forms. Integration of imaging with manometry and histopathology is essential for definitive diagnosis and surgical planning.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-01-04
DOI
https://doi.org/10.5281/zenodo.18500977
Primary Topic
Congenital gastrointestinal and neural anomalies
Type
article
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article

Radiological Imaging in Hirschsprung's Disease, Its Variants, and Colorectal Motility Disorders: A Comprehensive Review of Diagnostic Findings and Interventional Applications

Patel Reenal R, Govani Nd, Mehta AR, Zaparackaite I et al.
Zenodo (CERN European Organization for Nuclear Research)
Congenital gastrointestinal and neural anomalies
article

Radiological Imaging in Hirschsprung's Disease, Its Variants, and Colorectal Motility Disorders: A Comprehensive Review of Diagnostic Findings and Interventional Applications

Patel Reenal R, Govani Nd, Mehta AR, Zaparackaite I, Patel RV, Singh H, Midha PK, Singh SJ
article en

Abstract

Abstract Objectives: To synthesize current evidence on radiological imaging modalities used in the assessment of Hirschsprung’s disease (HD), its variants, pseudo-Hirschsprung’s conditions, and colorectal motility disorders, highlighting characteristic findings, diagnostic pathways, and interventional procedures. Design: Narrative review of radiological techniques and their diagnostic utility in congenital and acquired colorectal dysmotility syndromes. Methods: Data Sources: Peer-reviewed literature, clinical guidelines, and radiological case series retrieved from PubMed, Radiopaedia, and institutional imaging protocols. Eligibility Criteria: Studies and reviews describing imaging findings in HD (short-segment, long segment, total colonic aganglionosis, ultrashort segment), pseudo-Hirschsprung’s (e.g., internal anal sphincter achalasia), and colorectal motility disorders (e.g., chronic intestinal pseudo-obstruction, slow-transit constipation). Results:Contrast enema remains the cornerstone for identifying the transition zone and rectosigmoid ratio abnormalities in HD.Ultrasound shows promise in detecting rectal wall thickening and muscularis hypertrophy.MRI and CT aid in complex cases and postoperative evaluation.Nuclear scintigraphy and fluoroscopic motility studies differentiate neuropathic from myopathic dysmotility.Interventional radiology supports image-guided biopsy, decompression, and botulinum toxin injection in selected cases. Conclusions: Radiological imaging provides critical anatomical and functional insights in the diagnosis and management of HD and related disorders. A multimodal approach enhances diagnostic accuracy, especially in atypical presentations and variant forms. Integration of imaging with manometry and histopathology is essential for definitive diagnosis and surgical planning.

Zenodo (CERN European Organization for Nuclear Research)
Nottingham University Hospitals NHS Trust (GB), RK University (IN), Mount Sinai Hospital (US), Evelina London Children's Healthcare (GB), Cardiovascular Medical Group (US)
Good health and well-being
Openalex Percentile: Top 64%
Congenital gastrointestinal and neural anomalies
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