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Spontaneous Resolution of Craniocervical Junction Stenosis in a Child with Achondroplasia: A Case Report

Year: 2026
Type: article
Study design: Case Report
Abstract: Background: Craniocervical junction (CCJ) stenosis is a well-recognized and potentially life-threatening complication in children with achondroplasia, frequently requiring early surgical intervention. If left untreated, it can lead to devastating outcomes, including permanent neurological deficits or even death. Case Presentation: We report a rare case of a 9-year-old boy with achondroplasia and familial hemophagocytic lymphohistiocytosis who initially presented with significant CCJ stenosis. After being lost to follow-up, he was later found to have experienced spontaneous resolution of the stenosis, with no surgical intervention and no resulting neurological impairment. Conclusion: This case highlights the variability in the clinical course of CCJ stenosis in patients with achondroplasia and suggests that the need for early surgical intervention may vary among individuals. To move toward more precise and personalized care, larger studies are essential to identify predictors of spontaneous resolution and to help define clear, evidence-based management guidelines.
Language: English
Field: Medicine
Open Access status: diamond
OpenAlex ID: W7143295283
FWCI:
Cites: 12
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