Abstract
ABSTRACT: We present a patient with neurofibromatosis type 1 followed in our clinic since the age of 8.9 years who developed a right upper thoracic kyphoscoliosis. The scoliosis was 14o and the kyphosis 40o at initial presentation. The patient was asymptomatic with normal neurological examination. His MRI showed paraspinal neurofibromas in the upper thoracic region. He remained under close monitoring and at age 16.9 years his kyphosis was 47° and scoliosis 21°. He was skeletally mature (Risser 5) and in the absence of symptoms he decided against our recommendation for a posterior instrumented spinal fusion. The patient then failed to attend for 2 years and returned at age 19 years with a progressive deformity (scoliosis: 65° - kyphosis: 62°) and segmental rotatory dislocation at the T2-T3 level. He remained neurologically intact and a repeat MRI demonstrated dural ectasia across the cervical/thoracic spine with multiple paraspinal neurofibromas.
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