Spine deformity in familial dysautonomia (riley-day syndrome)

Familial dysautonomia spanning a 30-year period reviewed retrospectively. The 16 patients identified included nine with spine deformities. Serious general medical problems were common. Spine deformities included kyphosis, scoliosis, or a combination of both. Brace treatment was attempted and was unsuccessful in three patients. Seven underwent surgical stabilization. Although all seven patients tolerated the surgical procedures, at least one postoperative complication was noted in each case. Follow-up ranged from 11/2 to 161/2 years. We recommend close observation of the deformities, early stabilization when disorders are progressive, and a high level of awareness of potential complications.