Charcot-Marie-Tooth disease type 1A: multimodality imaging of extensive peripheral nerve hypertrophy and cavus...

Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with significant clinical and genetic heterogeneity. CMT typically affects distal musculature or peripheral nerves in younger patients. Imaging is not required for diagnosis but may help distinguish other disease processes similar to CMT. We describe a case of a middle-aged patient with extensive osseous, muscular, and peripheral nerve imaging abnormalities that prompted neurologic and genetic evaluation, leading to a diagnosis of CMT type 1A (CMT1A). We correlate radiographic, computed tomography (CT), and magnetic resonance imaging (MRI) findings with neurophysiologic and genetic testing results. This case highlights the role of multimodality imaging in CMT1A.