Dejerine-Sottas syndrome with early onset in childhood

Abstract

Dejerine-Sottas syndrome (DSS) is a progressive hypertrophic interstitial neuropathy of childhood characterized by defects in the myelin structure, with motor nerve conduction velocities below 10 m/sec.Thephenotype is genetically heterogeneous with autosomal dominant and autosomal recessive inheritance but “de novo”mutations are also described. Nerve pathology is highly variable. The clinical course is severe, leading tosensory loss, distal followed by proximal weakness, foot deformities, scoliosis and contractures, cranial nerve deficits and occasionally spinal cord compression. In this case study we evaluated a case of DSS at a ten year old boy and we outlined the importance of the electrophysiological investigationstogether with magnetic resonance neurography in diagnosing the Dejerine-Sottas syndrome.