MRI imaging findings of leg musculature in CMT 2 due to dynamin 2 mutation

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J Neurol. 2008 Jun 17.

Magnetic resonance imaging findings of leg musculature in Charcot-

Marie-Tooth disease type 2 due to dynamin 2 mutation.

Gallardo E, Claeys KG, Nelis E, García A, Canga A, Combarros O,

Timmerman V, De Jonghe P, Berciano J.

Services of Radiology, Clinical Neurophysiology and Neurology,

University Hospital " Marqués de Valdecilla " , (CIBERNED and IFIMAV)

and University of Cantabria, 39008, Santander, Spain.

The purpose of the study was to prospectively assess magnetic

resonance (MR) imaging findings of lower limb musculature in an

axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in

the dynamin 2 gene (DNM2). The series comprises a proband patient

aged 55 years and her two affected daughters aged 32 and 23.

MR imaging study included T1- and fat suppressed T2- weighted spin-

echo sequences. MR imaging study showed extensive fatty infiltration

of all calf muscle compartments with relative preservation of the

deep posterior one. Fatty muscle infiltration increased distally in

19 out of 66 (23 %) visualized calf muscles in the three patients,

but this percentage increased to 64 % in the youngest and least

severe patient.

Muscle edema without contrast enhancement was present in 23 % of calf

muscles. There was massive fatty atrophy of foot musculature. We

conclude that MR imaging study accurately depicts lower limb muscle

involvement in CMT2 caused by DNM2 mutation.