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

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.

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Publication Details

Journal
Journal of Spine Practice (JSP)
Published
2026-03-31
DOI
https://doi.org/10.18502/jsp.v5i2.19990
Primary Topic
Spinal Fractures and Fixation Techniques
Type
article
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article

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

Fawaz N. Alshaalan, Anouar Bourghli, Khalid Almusrea, Khalid Fawwaz Beidas et al.
Journal of Spine Practice (JSP)
Spinal Fractures and Fixation Techniques
article

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

Fawaz N. Alshaalan, Anouar Bourghli, Khalid Almusrea, Khalid Fawwaz Beidas, Faisal Mohammed Konbaz, Majd M Alrayes
article en

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.

Journal of Spine Practice (JSP)Vol. 5(2)
Alfaisal University (SA), King Faisal Specialist Hospital & Research Centre (SA)
Good health and well-being
Openalex Percentile: Top 39%
Spinal Fractures and Fixation Techniques
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