Presentation
Severe kyphosis and multiple skin nodules.
Patient Data
Severe kyphoscoliosis is seen at the thoracolumbar junction.
Lower thoracic and upper lumbar dural ectasia with posterior scalloping of the vertebral bodies (clearly seen at L1 vertebra).
Multiple bilateral large neurofibromas are seen involving the exiting lumbar nerve roots with widened neural foramina, in keeping with plexiform neurofibromas.
Intervertebral discs show preserved heights and hydration. No abnormal disc bulge.
Multiple cutaneous nodules are also seen.
Case Discussion
Neurofibromatosis type 1 is a genetic multisystem neurocutaneous disorder (phakomatosis) in which multiple tumours arise along the nerves; it also displays multiple changes in the skin colour. The plexiform neurofibromas starts to grow in childhood and keep stable during. They can cause pain and cosmetic disfigurement in addition to severe kyphoscoliosis. They can also cause nerve impingement and disfunction. This condition is also associated with high incidence of neoplasms (such as phaeochromocytoma and optic nerve glioma).
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