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Diana Epure

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Articles signed on Romanian Journal of NEUROLOGY:

ANTI-MUSK ANTIBODY POSITIVE MYASTHENIA GRAVIS WITH CHILDHOOD ONSET

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Romanian Journal of Neurology, Volume XV, No. 2, 2016
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

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ANTI-MUSK ANTIBODY POSITIVE MYASTHENIA GRAVIS WITH CHILDHOOD ONSET

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ABSTRACT

Myasthenic syndromes are acquired diseases which unite the impairment of neuromuscular transmission with associated muscle weakness, occasional positive anti-acetylcholine or MuSK antibodies and characteristic electrodiagnostic features. We present the case of a ten year old girl with ocular muscle weakness at onset and positive anti-MuSK antibodies, with a favorable evolution under pyridostigmine bromide.

Keywords: myasthenia, MuSK, acetylcholine, pyridostigmine, child

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DEJERINE-SOTTAS SYNDROME WITH EARLY ONSET IN CHILDHOOD

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Romanian Journal of Neurology, Volume XIII, No. 3, 2014
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

DEJERINE-SOTTAS SYNDROME WITH EARLY ONSET IN CHILDHOOD

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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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PEDIATRIC TUMEFACTIVE MULTIPLE SCLEROSIS – A CHALLENGING CASE

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Romanian Journal of Neurology, Volume XIII, No. 4, 2014
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

PEDIATRIC TUMEFACTIVE MULTIPLE SCLEROSIS – A CHALLENGING CASE

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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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