Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome)

Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Jews of Ashkenazi descent, with only some 500 recognized cases. The causative gene was identified on chromosome 9. FD is of considerable orthopedic interest, because of the prevalence of skeletal deformity. About 90% of surviving dysautonomic children will develop a spinal curvature, commonly a scoliosis. The scoliotic curve is usually kyphotic rather than lordotic, and appears during the first decade of life. Fifty-one of the 90 reported cases of familial dysautonomia in Israel involved patients who were seen at the scoliosis clinic for assessment and treatment of their spinal deformities. Most of the patients presented with a scoliotic deformity associated in 37 cases with an increased thoracic kyphosis. In our series orthotic treatment and physiotherapy were found to be minimally successful at best. Surgical treatment of the spine was performed in 13 of 51 patients in this series. A retrospective review of these patients' charts and radiographs was carried out. Six years of follow-up are reported. The primary indication for surgery was progression of the spinal curve. Only posterior spinal fusions were performed. Anterior transthoracic procedures were avoided in spite of the significance of the kyphotic deformity, because of the frequency of pulmonary complications. Harrington distraction and compression instrumentation was used. Three-millimeter compression rods were used in a distraction mode in thin, young children. 'Harri-Luque' segmental sublaminar wiring technique and Wisconsin spinous process segmental wiring was used in some. In all cases, the spine fusion was supplemented by bank bone only, to avoid the additional trauma of graft removal. We believe that surgical intervention is advantageous, if done early in the evolution of spinal deformity. Greater technical difficulties and a higher complication rate were encountered in this series relative to the problems usually seen after spinal deformity surgery in children; this is all the more important in a disease in which general anesthesia is an additional major complicating factor. It is hoped that the improved physical condition now seen after early gastrostomy and fundoplication will aid in reducing this high complication rate. Only a small degree (about 25%) of correction was achieved in the majority of patients. Some of this apparent rigidity derived from the inability to apply sufficient instrumental corrective force because of the friable osteoporotic bone. After surgery, there was a marked decrease in the frequency of pneumonia and an improvement in the degree of ataxia, for reasons not understood, which led to an obvious improvement in the quality of life.