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Stéphane Mathis
Service de Neurologie
CHU La Milétrie
86021 POITIERS, France
s.mathis@chu-poitiers.fr

Journal articles

2008
 
PMID 
S Mathis, G C Scheper, N Baumann, E Petit, R Gil, van der der MS, J P Neau (2008)  The ovarioleukodystrophy   Clin Neurol Neurosurg 110: 10. 1035-7 Dec  
Abstract: The "ovarioleukodystrophies" comprise a group of rare leukodystrophies associated with primary or premature ovarian failure. Some of the patients have a variant of "vanishing white matter disease" with mutations in subunits of eukaryotic initiation factor 2B (EIF2B). A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context of amenorrhea since the age of 18 years was found to be homozygous for a mutation in the EIF2B5 gene: c.338G>A/p.Arg113His. She had a progressive disease with development of tetraparesia in less than 6 years. Our observation confirms that ovarian failure in the context of a leukodystrophy warrants mutational analysis of the genes encoding the subunits of EIF2B.
Notes:
2007
 
PMID 
S Mathis, P Levillain, P Vandermarcq, R Gil, V Auche, J Ciron, J P Neau (2007)  Histiocytose langerhansienne encéphalique isolée à forme pseudo-tumorale : une observation et revue de la littérature[Solitary intracerebral langerhans cell histiocytosis : report of one case and literature review]   Rev Med Interne 28: 9. 645-50 Sep  
Abstract: INTRODUCTION: Langerhans cell histiocytosis is a multivisceral pathology. Neurological manifestations are rare. EXEGESIS: We report the case of a 31 year old man hospitalized for left partial motor seizure revealing a right frontal tumor with criteria for histiocytosis X. The histological and biological examination found criteria for Langerhans cell histiocytosis (CD1a and S100 reactivity). The check-up for extracerebral localisations of the disease was negative. The outcome was favourable after a total surgical resection. The review of the literature and a discussion on neurological manifestations of this disease were carried out. CONCLUSION: A neurological manifestation can be the first and only symptom of a Langerhans cell histiocytosis.
Notes:
2006
2005
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