Prevalence of Systemic and Intraspinal Anomalies in Congenital Deformity of the Spine

We reviewed 266 patients with congenital deformity of the spine and found 162 patients who had adequate clinical documentation and had a MRI study of the entire spine. Eleven had kyphosis, 12 kyphoscoliosis, 20 Klippel-Feil syndrome, 119 scoliosis. The type and level of anomalous vertebra(e) were recorded. Deformity from other than an isolated hemivertebra was termed complex. Associated syndromes, intraspinal anomalies, renal anomalies, and limb anomalies were recorded. We hoped to determine which patients with congenital spine deformity required MRI of the spine to identify intraspinal anomalies. MRI revealed 72 patients (44%) with an intraspinal anomaly. Isolated hemivertebra was seen in 15 (21%) of these patients, and complex multi-level involvement in 57 patients (79%). Intraspinal anomalies were seen in 9/11 (82%) with kyphosis, 8/12 (67%) with kyphoscoliosis, 11/20 (55%) with Klippel-Feil syndrome, and 44/119 (37%) with scoliosis. Twenty of the 72 patients (28%) required neurosurgical intervention. Only 11/72 (15%) patients had abnormal neurologic findings on exam. An associated syndrome was found in 24/162 patients (15%), and 13/24 (56%)had an intraspinal anomaly. Renal anomalies were seen in 41/162 (25%), and 23/41 (56%) had an intraspinal anomaly. Limb anomalies were seen in 21/162 patients (13%), and 16/21 (76%) had an intraspinal anomaly. Higher prevalences of intraspinal anomalies were seen in patients with complex patterns of vertebral involvement (79%), congenital kyphosis (82%) and kyphoscoliosis (67%), and associated syndrome (54%), renal anomaly (56%), and limb anomaly ((76%). Unfortunately, physical findings alone were inadequate in their predictive capacitiy (15%).