Early onset Charcot‐Marie‐Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2‐related neuropathy

We report a male child with psychomotor delay, dysmorphic features and weakness of lower limbs associated with electrophysiological features of severe, sensory‐motor, axonal neuropathy. The patient was diagnosed with early onset CMT2A and severe psychomotor retardation associated to c.310C>T mutation (p.R104W) in MFN2 gene.
CMT2A should be considered in patients with both axonal sensory‐motor neuropathy and developmental delay.

Source: Journal of the Peripheral Nervous System - August 26, 2015 Category: Neurology Authors: Maria Tufano, Gerarda Cappuccio, Gaetano Terrone, Fiore Manganelli, Chiara Pisciotta, Alessandro Geroldi, Simona Capponi, Ennio Del Giudice Tags: CASE REPORT Source Type: research