Surgical treatment of segmental spinal dysgenesis: a report of 19 cases

Abstract

Study design: Retrospective review.

Objective: To describe clinical presentation, surgical management, long-term results, and complications in patients with segmental spinal dysgenesis (SSD). In addition, we sought to emphasize early surgery for this complex congenital abnormality. SSD is a rare congenital malformation characterized by focal stenosis, spinal subluxation, kyphosis, and absence of the nerve roots. Neurologic function ranges from normal to complete paraplegia. Progression of the deformity and neurologic deterioration is the rule.

Methods: An independent spinal surgeon reviewed the complete records of 19 patients with SSD, between 1998 and 2015 at a single institution. Mean follow-up was 10 years and 6 months (2-14 years).

Results: We evaluated 11 males and 8 females, with a mean age of 2 years and 9 months (5 months-15 years). The dysgenetic segment involved an average of 2.9 vertebrae (1-5); the upper thoracic region was most commonly involved in ten cases. Fifteen patients had severe spinal stenosis. 14 patients presented neurological deficits and 15 patients had associated organ and musculoskeletal anomalies.Twenty-seven surgeries were performed, a mean of 1.76 procedures (1-5) to obtain solid fusion. Neurologic function improved in four, deteriorated in three, and remained unchanged in 12 patients Seven complications were recorded.

Conclusion: We strongly recommend decompression and fusion as soon as possible to preserve or prevent neurologic deterioration. Although challenging, it was possible to achieve a solid instrumented fusion in all cases; however, a high rate of patients may deteriorate or not recover neurological status after surgery.

Level of evidence: Level IV evidence.

Keywords: Congenital subluxation; Deformity progression; Early surgery; Neurological impairment; Segmental spinal dysgenesis.