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Purpose <p>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.</p> Methods <p>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.</p> Results <p>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 (<i>n</i> = 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.</p> Conclusion <p>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.</p>

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

  • 期刊论文

  • 发表日期：

    2026年6月29日

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  • Hiroki Nakamura,
  • Hiroshi Yamakawa,
  • Nozomi Aoki,
  • Rina Tanaka,
  • Sakiko Yoshimoto,
  • Tokiko Okunobo,
  • Ryosuke Satake,
  • Prem Puri,
  • Takashi Doi

摘要

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.