Coexistence of Neurofibromatosis 1 and Chiari Type I Malformation: An Unusual Association

Abstract

Neurofibromatosis 1 (NF-1) is a relatively common, autosomally dominant disorder, comprised of characteristic skin lesions. NF-1 is also associated with a variety of cerebral dysplasias. We describe a patient with both NF-1 and Chiari type I malformation. The frequency of this correlation depends on the magnetic resonance imaging (MRI) findings in patients with NF-1, because some cases of Chiari malformations are asymptomatic. Awareness and further observation of this unusual association are required, and Chiari type I malformation should be added to the differential diagnosis of the central nervous system dysplasias in patients affected by NF-1.