Diana Epure, Ana-Maria Geanta, Daniela VASILE, Daniel Teleanu and Raluca Teleanu

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 investigations together with magnetic resonance neurography in diagnosing the Dejerine-Sottas syndrome.

Keywords: hypertrophic interstitial neuropathy, progressive evolution, child, electroneurophysiology, magnetic resonance neurography

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Smaranda Nita, Diana Epure, Magdalena Sandu, Daniel Teleanu and Raluca Teleanu

ABSTRACT

Multiple sclerosis (MS) is an autoimmune inflammatory disease of the central nervous system which is often diagnosed in young adults. We present a case of tumefactive multiple sclerosis in a child, an unusual form of presentation of MS, especially at this age group, delineating the clinical picture, the diagnostic difficulties and the possible therapeutic options we have gathered.

Keywords: multiple sclerosis, child, tumefactive

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