Pediatric surgery international · 2026
Congenital hypoganglionosis: phenotype-based outcomes and evolution of diagnosis and management-a systematic review.
СтатьяСистематический обзорНазвание и аннотация: Перевод в очереди
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Nakamura Hiroki, Yamakawa Hiroshi, Aoki Nozomi, Tanaka Rina, Yoshimoto Sakiko, Okunobo Tokiko, Satake Ryosuke, Puri Prem, Doi Takashi
Аннотация
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.
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.