Infants with achondroplasia should have routine MRI screenings for cervical cord compression, study finds

Written by Shayna Korol | March 27, 2019 | Print  |

All infants with achondroplasia should have MRIs to detect cervical spinal cord compression, according to a study in Genetics in Medicine.

The study authors reviewed the medical records of 49 achondroplasia patients between September 1997 and January 2017, including physical exams, MRIs, polysomnograms when available and surgical histories. Appropriate polysomnogram data was available for 39 patients.

Three things to know:

1. Twenty-seven of 49 patients had cervical cord compression on MRI, and 20 of these patients required surgery.

2. Central apnea was detected in two of 23 patients with cervical cord compression for whom polysomnogram data was available. Physical examination revealed depressed deep-tendon reflexes in two patients with cord compression and one patient without cord compression.

3. Cervical cord compression is common in infants with achondroplasia and sometimes requires surgical intervention. Physical exam and polysomnograms are poor predictors of the presence of cord compression or the need for surgery, the study authors conclude. They advise that all infants with achondroplasia should have MRIs of the craniocervical junction in the first six months of life.

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