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Neurosurgical Evaluation and Management of Adults with Achondroplasia
Mari L Groves1, Alon Kashanian2, Moise Danielpour3
1Division of Pediatric Neurosurgery, Johns Hopkins Hospital, 600 N Wolfe Street, Phipps 556, Baltimore, MD 21287, USA.
Insights
This review highlights the shift in neurosurgical concerns for achondroplasia patients from cranial issues in infancy to spinal problems in adulthood. It guides adult specialists on managing these complex skeletal dysplasia cases.
Area of Science:
- Neurosurgery
- Skeletal Dysplasia
- Genetics
Background:
- Achondroplasia is a common skeletal dysplasia with unique neurosurgical challenges.
- Focus often remains on pediatric concerns, particularly cranial issues due to impaired endochondral ossification and synchondrosis fusion.
- As patients age, the neurosurgical landscape transitions towards spinal complications.
Purpose of the Study:
- To review the common neurosurgical concerns in adult patients with achondroplasia.
- To provide guidance for adult neurosurgeons and orthopedic surgeons encountering these patients.
- To bridge the gap in understanding neurosurgical needs across the lifespan.
Main Methods:
- Literature review of neurosurgical issues in achondroplasia.
- Analysis of common cranial and spinal complications.
- Synthesis of current management strategies.
Main Results:
- Early childhood concerns include craniosynostosis and hydrocephalus.
- Adulthood brings increased risk of spinal stenosis, kyphosis, and associated neurological deficits.
- Transition of care from pediatric to adult specialists is critical.
Conclusions:
- Neurosurgical management of achondroplasia requires lifelong attention, with a significant shift to spinal issues in adulthood.
- Adult neurosurgeons and orthopedic surgeons must be aware of these specific challenges.
- Comprehensive, age-appropriate neurosurgical care is essential for improving outcomes in achondroplasia.
Abstract:
Much of the current medical discussion for within centers for skeletal dysplasia and specifically patients with achondroplasia focuses on infancy and early childhood. Most neurosurgical concerns arise due to a defect in the endochondral ossification, resulting on early fusion of the synchondrosis. As patients age, the neurosurgical focus shifts from primarily cranial to spinal concerns. Often pediatric neurosurgeons may continue to follow their patients with skeletal dysplasia. However, general adult neurosurgeons and orthopedic surgeons may see these graduated adults in their practice. This article provides a review of the common neurosurgical concerns for patients with achondroplasia.
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