Magnetic resonance imaging and sonographic evaluation of peripheral nerves in charcot-marie-tooth syndrome

We examined median nerves (MN) at wrist and posterior tibial nerves (PTN) at ankle of 11 patients with CMT1A, CMT1X or CMT2 with 7.5-13 MHz sonography, color Doppler and 1.5T MR, using a body coil, Tl- and T2-weighted SE, fat-sat sequences and i.v. administration of Gd-DTPA.Results were compared with 8 age and sex matched controls.Imaging findings were correlated with genetic, clinical and neuropathologic results.MN and PTN of patients with CMT 1A appeared significantly larger than those of patients with CMT IX and CMT2. The size of single nerve fascicles of MN was also significantly larger in patients with CMT 1A than in CMT IX and CMT2. MR signal and fasdcular pattern were always normal.US and MR are able to detect the hypertrophy of peripheral nerves in CMT.Imaging can help to differentiate CMT1A from CMT1X or CMT2, and provide a primary tool for selection of cases for high-cost genetic assessments.