A Case of Chiari Type 1 Malformation and Syringomyelia in Neurofibromatosis Type 1 Patient

Abstract

A 26-year-old woman presented with skin pigmentation and numbness on the upper arm. More than six café au lait spots over 15 mm diameter could be seen throughout her skin. Neurofibromatosis (NF) type 1 was diagnosed based on genetic study. The brain magnetic resonance imaging (MRI) showed Chiari type 1 malformation and syringomyelia was noted in the C2 to T7 level in the spinal MRI. We suggest Chiari malformation and syringomyelia could be a rare manifestation in a patient with NF type 1.