Spinal bone defects in neurofibromatosis type I with dural ectasia: stress fractures or dysplastic? A case series.

Abstract

Neurofibromatosis type I (NF1) is a multisystem neurocutaneous disorder with varied musculoskeletal manifestations. Dural ectasia is a known association, whilst pedicular anomalies have been described, although not as frequently as other skeletal manifestations. However, reports of pedicular and other spinal clefts or fractures in combination with dural ectasia in NF1 are scarce. We aimed to identify osseous defects in the posterior elements of NF1 patients with dural ectasia. Images of patients with NF1 and back pain were reviewed for osseous defects in the posterior elements. Four patients were identified with NF1, back pain, dural ectasia and bone defects. The imaging appearances of the defects are illustrated. Defects in the spinal posterior elements of patients with NF1, back pain and dural ectasia may be dysplastic, stress fractures or, most probably, multifactorial in origin. Computed tomography demonstrates these defects most clearly.