Spinal cord injury rehabilitation in a pediatric achondroplastic patient: case report.

Abstract

Achondroplasia is an autosomal dominant condition that occurs in approximately 1 of 25,000 births. It has long been associated with neurologic morbidity and mortality in adults, but more recently it has been increasingly identified in children. Neurological sequelae of achondroplasia includes spinal stenosis, spinal cord compression at the foramen magnum (which can result in fatal acute craniocervical junction compression), hydrocephalus, radiculopathy, paresis, and abnormal spinal curvature. We report the case of a 12-year-old achondroplastic patient who incurred an apparently nontraumatic cervical spinal cord infarction, with resultant quadriplegia, with no apparent cause, which was complicated by impaired tolerance of temperature changes and hypercalcemia of immobilization. Whereas persons with achondroplasia have many of the same physical and functional impairments from spinal cord injury as other SCI patients, they are more likely to experience certain types of neurologic deficits and are more subject to other problems because of their altered body habitus.