PROGRESSIVE KYPHOSIS AND NEUROLOGIC COMPROMISE COMPLICATING SPONDYLOTHORACIC DYSPLASIA IN INFANCY (JARCHO-LEVIN SYNDROME)

Study Design. This is a case report and review of the literature. Objective. To review the orthopedic literature regarding the spinal abnormalities found with spondylothoracic dysplasia, and to present the history and management of severe kyphosis with neurologic impairment in an infant with spondylothoracic dysplasia. Summary of Background Data. Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a rare form of short-limbed dwarfism characterized by extensive vertebral and chest-wall abnormalities. Although the spinal anomalies generally are radiographically severe, no patient previously reported in the English orthopedic literature has required surgical stabilization. Methods. The clinical findings, course, and surgical management of an infant with spondylothoracic dysplasia and severe congenital kyphosis are presented. This patient required anterior decompression and anterior/posterior spinal fusion to obtain stabilization. The follow-up from the index surgical procedure was 2 years. Results. The patient underwent an initial anteroposterior fusion and decompression at 5 months of age. She underwent revision of both anteroposterior procedures 7 months later because of pseudarthroses and a progressive kyphosis. Her residual neurologic abnormality was minimal and she appeared to have a stable fusion at 24 months post-index procedure. Conclusions. The spinal abnormalities associated with spondylothoracic dysplasia may not be as benign as previously reported. Sagittal, as well as frontal, plane deformities may exist secondary to multiple hemivertebrae. Longer life span, possibly due to improved pulmonary care, may increase the incidence of deformities requiring intervention.