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Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment
G L Keiper1, B Koch, K R Crone
1The Neuroscience Institute, Department of Neurosurgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. thompdo@email.uc.edu
Insights
Early detection of cervicomedullary compression in infants with achondroplasia using clinical and MRI evaluations is crucial. Prompt surgical decompression can prevent sudden death and other serious complications.
Area of Science:
- Pediatric Neurosurgery
- Medical Imaging
- Genetics
Background:
- Achondroplasia is associated with an increased risk of sudden death due to cervicomedullary compression.
- Prospective evaluation is recommended to identify at-risk infants.
Observation:
- 11 infants with achondroplasia, asymptomatic for cervicomedullary compression, were evaluated.
- MRI revealed foramen magnum narrowing, cord signal changes, and ventriculomegaly in these infants.
Findings:
- Two infants with severe compression and two with opisthotonic posturing underwent successful foramen magnum decompression.
- Surgical findings included occipital bone extension and fibrotic epidural bands.
- Seven infants did not require surgery and remained asymptomatic.
Implications:
- Early clinical and MRI assessment is vital for identifying cervicomedullary compression in infants with achondroplasia.
- Timely surgical intervention can safely prevent severe outcomes, including sudden death.
Abstract:
The association between sudden death and cervicomedullary compression in infants with achondroplasia has been well described. Prospective clinical and imaging evaluations have been recommended to identify those infants with achondroplasia who are at risk of dying suddenly from respiratory arrest secondary to unrecognized cervicomedullary compression. Since 1988, we have prospectively evaluated 11 infants (average age 13 weeks) with achondroplasia who were asymptomatic for cervicomedullary compression on initial clinical evaluation. Craniocervical magnetic resonance imaging (MRI) findings included narrowing of the foramen magnum, effacement of the subarachnoid spaces at the cervicomedullary junction, abnormal intrinsic cord signal intensity and mild to moderate ventriculomegaly. Two patients with severe cord compression underwent immediate decompression. Two patients developed opisthotonic posturing within 3 months of evaluation and underwent foramen magnum decompression, including suboccipital craniectomy and atlantal laminectomy. Surgery in all cases revealed forward extension of the squamous portion of the occipital bone, thickened posterior rim of the foramen magnum and a dense fibrotic epidural band. There were no complications from surgery. Seven patients did not require surgery and were followed closely. All 11 patients remain asymptomatic at follow-up (mean 4.6 years; range 16 months to 7.3 years), and no patient has required a diversionary shunt procedure. The results of this prospective study confirm that early clinical and MRI evaluations are necessary to determine whether infants with achondroplasia have cervicomedullary compression. With early recognition, an immediate decompression can be performed safely to avoid serious complications associated with cervicomedullary compression, including sudden death.