Neuropediatrics 2006; 37 - THP151
DOI: 10.1055/s-2006-945974

NEUROFIBROMATOSIS TYPE 1 (NF1) AND SPINAL NEUROFIBROMAS. PRESENTATION IN 26 PATIENTS

I Pascual-Castroviejo 1, SI Pascual-Pascual 1, R Velazquez-Fragua 1, J Viaño 1, V Martinez 1
  • 1University Hospital La Paz, Madrid, Spain

Objectives: Spinal neurofibromas are a common feature in NF1. However, patients with this association are reported less frequently. We present here one of the largest series reported to date.

Methods: In a series of about 600 patients with NF1, spinal MR enhanced with gadolinium was performed in 94 cases. The MR study was extended to all parts of the body. Most patients had scoliosis.

Results: Spinal neurofibromas were observed in 26 patients, 15 males and 11 females, whose ages ranged between 1 and 28 years. Three patients corresponded to one family – mother, son and daughter – with hereditary familial spinal NF1. In two patients, the neurofibromas involved all spinal and peripheral nerves. All patients showed plexiform neurofibroma in one or several parts of the body out the spinal region, mostly in the neck. The spinal neurofibromas, bilateral in all patients, were located along the vertebral column, but they were more frequently seen in the cervical and sacrococcygeal regions. Malignancy of a neurofibroma was observed in two patients. Some of the spinal.

Conclusion: Spinal neurofibromas associated with NF1 appear frequently, particularly in patients who have scoliosis. MR study enhanced with gadolinium of the entire spinal region should be performed in all patients with NF1, especially in those who associated with scoliosis.