Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum

This case highlights the diagnostic and therapeutic complexity posed by overlapping features of megacolon and MMIHS, especially when hyperganglionosis was present. Our case highlights the need for clinico-pathological correlation and genetic analysis in diagnosing complex pediatric motility disorders.

Authors

Jai Kumar Mahajan (ORCID: https://orcid.org/0000-0003-0006-2028)
Shailesh Solanki (ORCID: https://orcid.org/0000-0002-0010-6193)
Hemlata Jangir (ORCID: https://orcid.org/0000-0002-8357-8347)
Nandita Kakkar

Institutions

Institute of Post Graduate Medical Education and Research (IN)
Post Graduate Medical Institute (PK)
Post Graduate Institute of Medical Education and Research (IN)

Publication Details

Journal: Fetal and Pediatric Pathology
Published: 2025-12-19
DOI: https://doi.org/10.1080/15513815.2025.2587173
Primary Topic: Congenital gastrointestinal and neural anomalies
Type: article
Field-Weighted Citation Impact: 0.00

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article

Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum

Jai Kumar Mahajan, Shailesh Solanki, Hemlata Jangir, Nandita Kakkar

Dec 19, 2025

Fetal and Pediatric Pathology

Congenital gastrointestinal and neural anomalies

article

Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic Spectrum

Jai Kumar Mahajan, Shailesh Solanki, Hemlata Jangir, Nandita Kakkar

December 19, 2025article en

Abstract

This case highlights the diagnostic and therapeutic complexity posed by overlapping features of megacolon and MMIHS, especially when hyperganglionosis was present. Our case highlights the need for clinico-pathological correlation and genetic analysis in diagnosing complex pediatric motility disorders.

Fetal and Pediatric PathologyVol. 45(1)

Institute of Post Graduate Medical Education and Research (IN), Post Graduate Medical Institute (PK), Post Graduate Institute of Medical Education and Research (IN)

Openalex Percentile: Top 39%

Congenital gastrointestinal and neural anomalies

DOI Source OpenAlex

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