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

PURPOSE: Congenital hypoganglionosis (CH) is a rare enteric neuropathy characterized by reduced and small ganglion cells in the myenteric plexus. We aimed to systematically review the clinical outcomes and diagnostic evolution of CH in children.

METHODS

A systematic review was conducted in accordance with PRISMA guidelines using PubMed and Web of Science (1978-2025). Of 396 identified records, 32 studies including 298 pediatric patients were analyzed. Disease extent was classified as diffuse/panintestinal, colon-limited, segmental, or unspecified.

RESULTS

Among 298 patients, 144 (48%) were classified as diffuse/panintestinal, 25 (8%) as colon-limited, 22 (7%) as segmental, and 107 (36%) were unspecified. Among patients with diffuse/panintestinal disease for whom mortality data were available (n = 105), 28 deaths (26.7%) were documented, whereas no deaths were reported in colon-limited cases (0/24). Most diffuse cases presented in the neonatal period. Diagnostic methods evolved over time, with increasing use of quantitative HuC/D staining after 2020. Surgical management also shifted from resection-based procedures to phenotype-based strategies, including stoma formation and intestinal rehabilitation.

CONCLUSION

Diffuse or panintestinal neonatal forms are associated with high mortality, whereas colon-limited disease is associated with favorable survival. Advances in diagnostic techniques have supported phenotype-based management. Extent-based stratification may improve outcomes in severe cases.