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Congenital hypoganglionosis: phenotype-based outcomes and evolution of diagnosis and management-a systematic review

Hiroki Nakamura1, Hiroshi Yamakawa1, Nozomi Aoki1

  • 1Department of Pediatric Surgery, Kansai Medical University, Osaka, Japan.

Pediatric Surgery International
|June 29, 2026
PubMed

Insights

Congenital hypoganglionosis (CH) extent impacts outcomes. Diffuse neonatal CH has high mortality, while colon-limited CH shows favorable survival. Diagnostic advances aid phenotype-based management.

Area of Science:

  • Pediatric Gastroenterology
  • Neurogastroenterology
  • Enteric Neuropathies

Background:

  • Congenital hypoganglionosis (CH) is a rare enteric neuropathy.
  • It is characterized by reduced and small ganglion cells in the myenteric plexus.
  • Understanding CH clinical outcomes and diagnostic evolution in children is crucial.

Purpose of the Study:

  • To systematically review the clinical outcomes of CH in pediatric patients.
  • To analyze the diagnostic evolution of CH.
  • To stratify CH based on disease extent and its impact on survival.

Main Methods:

  • Systematic review following PRISMA guidelines.
  • Searched PubMed and Web of Science (1978-2025).
  • Analyzed 32 studies including 298 pediatric patients, classifying disease extent.

Main Results:

  • Diffuse/panintestinal CH (48%) had high mortality (26.7% in neonates), while colon-limited CH (8%) had no reported deaths.
  • Most diffuse cases presented neonatally.
  • Diagnostic methods evolved, with increased HuC/D staining post-2020, and surgical management shifted to phenotype-based strategies.

Conclusions:

  • Diffuse neonatal CH is associated with high mortality; colon-limited CH has favorable survival.
  • Advanced diagnostics support phenotype-based management.
  • Extent-based stratification may improve outcomes in severe CH cases.
Abstract

Keywords:
Congenital hypoganglionosisEnteric neuropathyIntestinal motility disorderPediatric surgerySystematic review

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