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Upper cervical myelopathy in achondroplasia
American Journal of Clinical Pathology
|July 1, 1977
Summary
Achondroplasia in infants can cause lethal upper cervical spinal cord compression due to small foramina magna. Early detection and avoiding head hyperextension may improve outcomes for these patients.
Area of Science:
- Pediatric Neurology
- Orthopedic Surgery
- Developmental Biology
Background:
- Achondroplasia is a common form of dwarfism characterized by impaired cartilage growth.
- Upper cervical spinal cord compression is a potential complication in infants with achondroplasia.
Observation:
- Two infants with achondroplasia presented with small foramina magna and severe upper cervical spinal cord compression.
- Histological examination revealed damage consistent with hyperextension-type spinal cord injury.
- Anterior displacement of the foramen magnum was noted in one case, suggesting a potential contributing factor.
Findings:
- The spinal cord compression in these cases led to lethal outcomes in one infant and survival for 6 months in another.
- Sublethal upper cervical spinal cord lesions in achondroplastic infants may be surgically salvageable.
- The incidence of non-lethal upper cervical spinal cord damage in achondroplasia, particularly in early infancy, is likely underestimated.
Implications:
- Avoiding hyperextension of the head in infants with achondroplasia is recommended to prevent spinal cord injury.
- Further research is needed to verify the role of foramen magnum displacement in susceptibility to hyperextension injury.
- Increased awareness and diagnostic vigilance for upper cervical spinal cord damage in achondroplastic infants are warranted.