Dejerine-Sottas syndrome with early onset in childhood

Dejerine-Sottas syndrome with early onset in childhood

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. The phenotype is genetically heterogeneous with autosomal dominant and autosomal recessive inheri...

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Bibliographic Details
Published in:Romanian journal of neurology Vol. 13; no. 3; pp. 153 - 159
Main Authors: Epure, Diana, Geanta, Ana-Maria, Vasile, Daniela, Teleanu, Daniel, Teleanu, Raluca
Format: Journal Article
Language:English
Published: Amaltea Medical Publishing House 30-09-2014
Subjects:
child
electroneurophysiology
hypertrophic interstitial neuropathy
magnetic resonance neurography
progressive evolution
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Description
Summary: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. The phenotype 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 to sensory 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 investigations together with magnetic resonance neurography in diagnosing the Dejerine-Sottas syndrome.
ISSN:1843-8148
2069-6094
DOI:10.37897/RJN.2014.3.10