Neurofibromatosis type I: spinal neoplasia without symptoms

Neurofibromatosis1 (NF-1) or von Recklinghausen disease is the most common of the neurocutaneous syndromes. It is characterized by presence of hamartomas in multiple organs. Inheritance is autosomal dominant but spontaneous mutations are seen in half the cases. The authors are reporting a classical case of this syndrome with spinal neoplasia which was interestingly asymptomatic. Authorities seem to agree that because the risk of developing intradural disease is significant in patients with NF-1, a routine MRI of the entire spine should be obtained.