TY - JOUR
T1 - Cervical spinal cord compression in infants with achondroplasia
T2 - should neuroimaging be routine?
AU - Sanders, Victoria R.
AU - Sheldon, Stephen H.
AU - Charrow, Joel
N1 - Publisher Copyright:
© 2018, American College of Medical Genetics and Genomics.
PY - 2019/2/1
Y1 - 2019/2/1
N2 - Purpose: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia. Methods: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients. Results: Twenty-seven of 49 patients had cervical cord compression on MRI, and 20 of those patients required surgery. Central apnea was detected in 2/23 patients with cervical cord compression in whom PSG data was available. Physical exam revealed depressed deep-tendon reflexes in two patients with cord compression and one patient without cord compression. Besides hypotonia in some, the neurological exams of these patients were unremarkable. Conclusions: Cervical cord compression is a common occurrence in infants with achondroplasia and necessitates surgical intervention in some patients. Physical exam and PSG are poor predictors of the presence of cord compression or the need for surgery. All infants with achondroplasia should have MRIs of the craniocervical junction in the first 6 months of life.
AB - Purpose: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia. Methods: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients. Results: Twenty-seven of 49 patients had cervical cord compression on MRI, and 20 of those patients required surgery. Central apnea was detected in 2/23 patients with cervical cord compression in whom PSG data was available. Physical exam revealed depressed deep-tendon reflexes in two patients with cord compression and one patient without cord compression. Besides hypotonia in some, the neurological exams of these patients were unremarkable. Conclusions: Cervical cord compression is a common occurrence in infants with achondroplasia and necessitates surgical intervention in some patients. Physical exam and PSG are poor predictors of the presence of cord compression or the need for surgery. All infants with achondroplasia should have MRIs of the craniocervical junction in the first 6 months of life.
KW - Achondroplasia
KW - Central apnea
KW - Cervical cord compression
KW - Foramen magnum stenosis
KW - Sudden death
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U2 - 10.1038/s41436-018-0070-0
DO - 10.1038/s41436-018-0070-0
M3 - Review article
C2 - 29872110
AN - SCOPUS:85048036125
VL - 21
SP - 459
EP - 463
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 2
ER -