J Korean Neurol Assoc.  2022 Feb;40(1):70-72. 10.17340/jkna.2022.1.12.

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

Affiliations
  • 1Department of Neurology, Jeju National University Hospital, Jeju, Korea
  • 2Department of Neurology, Jeju National University College of Medicine, Jeju, Korea

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.

Keyword

Chiari malformation; Neurofibromatosis; Syringomyelia
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