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Updated: Jun 6, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

Hirschsprung's disease and the brain.

S W Moore¹

¹Division of Paediatric Surgery, University of Stellenbosch, Tygerberg, South Africa. swm@sun.ac.za

Pediatric Surgery International

|December 7, 2010

Summary

Hirschsprung's disease (HSCR) shares developmental pathways with the central nervous system (CNS). This review explores HSCR's syndromic associations and suggests investigating potential CNS issues in affected patients.

Area of Science:

Neuroscience
Developmental Biology
Genetics

Background:

The enteric nervous system (ENS) and central nervous system (CNS) share developmental factors.
Hirschsprung's disease (HSCR) is a congenital disorder of the ENS, often occurring with other abnormalities.
CNS anomalies are reported in 6.78% of HSCR cases, potentially underestimated.

Purpose of the Study:

To review known syndromes and ENS associations of HSCR.
To explore potential pathogenetic links between HSCR and CNS anomalies.
To highlight the need for investigating cognitive and neurological issues in HSCR patients.

Main Methods:

Literature review of HSCR, syndromic phenotypes, and ENS associations.
Analysis of potential pathogenetic mechanisms and gene-gene interactions.

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Immunostaining to Visualize Murine Enteric Nervous System Development

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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

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Published on: April 26, 2019

Immunostaining to Visualize Murine Enteric Nervous System Development

Immunostaining to Visualize Murine Enteric Nervous System Development

Published on: April 29, 2015

Examination of clinical and functional management challenges.

Main Results:

HSCR is frequently associated with syndromic phenotypes, including CNS anomalies.
Shared spatio-temporal expression of neural growth factors suggests a common developmental basis.
Borderline cognitive abilities, attention-deficit disorders, and epilepsy may be under-recognized in HSCR.

Conclusions:

The link between HSCR and CNS development warrants further investigation.
Comprehensive evaluation of neurological and cognitive function is crucial for HSCR patients.
Development of specific management guidelines for HSCR patients with associated CNS issues is needed.