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1.
We report a case of acute myelitis that developed in a seven-year-old girl with measles. Attention is drawn to the isolated occurrence of this complication in our patient who had no other neurologic abnormalities, and specifically no encephalitis, whereas spinal cord involvement in measles is usually overshadowed by prominent manifestations of encephalitis. Furthermore, we point out that intrathecal production of antibodies may occur but does not militate against the immunoallergic mechanism usually thought to be involved in this type of disease. 相似文献
2.
D Doummar B Roussat B Pelosse H Ducou Le Pointe M Iba-Zizen A Roubergue D Rodriguez T Billette de Villemeur 《Archives de pédiatrie》2004,11(11):1384-1388
Acute or rapidly progressive visual loss in children needs urgent attention and treatment. It may be unilateral orbilateral. Etiology depends upon the involved areas: eye ball, optic nerve, retro-chiasmatic pathways. Psychogenic origin is quite common in school-age children, however, it has to be considered last. Unilateral visual loss may be overlooked. Acute total transitory visual loss may be due to epilepsy or to migraine. Rapidly progressive visual loss may be due to retinal disease, optic neuritis or cortical blindness. Management of visual loss depends on clinical features, associated symptoms, and aspect of the optic disc. It needs collaboration between ophthalmologist,pediatrician and neuropediatrician. Retinal hemorrhages first call to mind a traumatic origin. Swelling of the optic disc may be due to increased intracranial pressure or due to optic neuritis. When the optic disc is normal it is necessary to rule out organic diseases before establishing the diagnosis of a psychogenic vision disturbance. In emergency, brain neuroimaging is the best way to diagnose intracranial mass and visualize optic pathways. 相似文献
3.
Viollet L Zarhrate M Maystadt I Estournet-Mathiaut B Barois A Desguerre I Mayer M Chabrol B LeHeup B Cusin V Billette De Villemeur T Bonneau D Saugier-Veber P Touzery-De Villepin A Delaubier A Kaplan J Jeanpierre M Feingold J Munnich A 《European journal of human genetics : EJHG》2004,12(6):483-488
Chronic distal spinal muscular atrophy (Chronic DSMA, MIM (*)607088) is a rare autosomal recessive disorder characterized by a progressive motor weakness and muscular atrophy, predominating in the distal parts of the limbs. A form of Chronic DSMA gene has been previously mapped to chromosome 11q13 in the 10.3 cM interval defined by loci D11S1889 and D11S1321. By linkage analysis in 12 European Chronic DSMA families, we showed that a disease gene maps to chromosome 11q13.3 (Z(max)=6.66 at theta=0.00 at the DSM4 locus) and suggested that this condition is genetically homogeneous. Recombination events allowed us to reduce the genetic interval to a 2.6 cM region, telomeric to the IGHMBP2 gene, excluding this gene as the disease causing gene in Chronic DSMA. Moreover, partial linkage disequilibrium was found between three rare alleles at loci D11S1369, DSM4 and D11S4184 and the mutant chromosome in European patients. Analysis of the markers at these loci strongly suggests that most Chronic DSMA chromosomes are derived from a single ancestor. Refinement of the Chronic DSMA locus will hopefully allow to test candidate genes and lead to identification of the disease-causing mutations. 相似文献
4.
Billette J; Janse MJ; van Capelle FJ; Anderson RH; Touboul P; Durrer D 《The American journal of physiology》1976,231(4):1129-1139
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Damien Galanaud Ayman Tourbah Stéphane Lehéricy Nathalie Leveque Bénédicte Heron Thierry Billette de Villemeur Nathalie Guffon Fran?ois Feillet Nicole Baumann Marie T. Vanier Frédéric Sedel 《Molecular genetics and metabolism》2009,96(2):55-58
Niemann-Pick C (NPC) is a fatal progressive neurolipidosis. Miglustat, an inhibitor of glycosphingolipid synthesis, has been proposed to treat patients but questions remain regarding its efficacy. A major problem has been the lack of suitable objective efficacy endpoints. Three adults with NPC were treated with miglustat for 24 months. Efficacy of treatment was assessed clinically and using brain magnetic resonance spectroscopy. All patients reported mild clinical improvement or stabilization. Furthermore, a sustained decrease in the choline/creatine ratio was observed in all three patients over time. Although these preliminary results require confirmation on a larger cohort of patients, they suggest that miglustat has some beneficial effect on brain dysfunction in NPC and that MRS could be used routinely as a non invasive surrogate marker of treatment efficacy. 相似文献
7.
Billette J 《Journal of cardiovascular electrophysiology》2002,13(5):515-518
The anatomic and functional substrate underlying AV nodal rate-dependent and dual pathway properties remains highly controversial. This article focuses on some factors that impair the understanding of the AV nodal structure-function relationship and some clues toward sorting it out. A definition of the AV node that applies to both anatomic and functional studies, an orthogonal topographic representation of nodal structures, and the integration of rate-dependent and dual pathway behavior of the AV node are proposed as primary steps toward a better understanding of the AV nodal structure-function relationship. Further fact-based information is the key to the sorting out of this puzzle. 相似文献
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Haut S de Villemeur TB Brivet M Guiochon-Mantel A Boutron A Rustin P Legrand A Slama A 《European journal of human genetics : EJHG》2004,12(3):220-224
We report on a patient with severe growth retardation and IgF1 deficiency, in which a mitochondrial abnormality was suspected. An isolated mitochondrial respiratory chain complex III deficiency was found in blood lymphocytes and skin fibroblasts. Sequence analysis of the cytochrome b, which is the only mitochondrial DNA-encoded subunit of complex III, revealed a homoplasmic G15498A mutation, resulting in the substitution of a highly conserved amino acid (glycine 251 into an aspartic acid). The mutation was found to be homoplasmic in all tissues examined from the mother and her brother (lymphocytes, fibroblasts, hair roots and buccal cells). Complex III deficiency was also demonstrated in these cells. Nevertheless, the mother and the brother were asymptomatic. This mutation had been considered as a cardiomyopathy-generating mutation in a previously reported case, and its pathogenicity has been demonstrated recently in yeast. However, it seems not to fulfil the classical criteria for pathogenicity of a mitochondrial DNA mutation, especially the heteroplasmic status, and to be clinically silent, albeit present, in nonaffected relatives. We suggest that other factors are contributing to the clinical variability expression of the G15498A mtDNA mutation. 相似文献
10.
Saugier-Veber P Bonnet C Afenjar A Drouin-Garraud V Coubes C Fehrenbach S Holder-Espinasse M Roume J Malan V Portnoi MF Jeanne N Baumann C Héron D David A Gérard M Bonneau D Lacombe D Cormier-Daire V Billette de Villemeur T Frébourg T Bürglen L 《Human mutation》2007,28(11):1098-1107
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal overgrowth with advanced bone age. Here, we report on our experience in the molecular diagnostic of Sotos syndrome on 116 patients. Using direct sequencing and a quantitative multiplex PCR of short fluorescent fragments (QMPSF)-based assay allowing accurate detection of both total and partial NSD1 deletions, we identified NSD1 abnormalities in 104 patients corresponding to 102 Sotos families (90%). NSD1 point mutations were detected in 80% of the index cases, large deletions removing the NSD1 gene entirely in 14%, and intragenic NSD1 rearrangements in 6%. Among the 69 detected distinct point mutations, 48 were novel. The QMPSF assay detected an exonic duplication and a mosaic partial deletion. QMPSF mapping of the 15 large deletions revealed the heterogeneity of the deletions, which vary in size from 1 to 4.5 Mb. Clinical features of NSD1-positive Sotos patients revealed that the phenotype in patients with nontruncating mutations was less severe that in patients with truncating mutations. This study confirms the heterogeneity of NSD1 alterations in Sotos syndrome and therefore the need to complete sequencing analysis by screening for partial deletions and duplications to ensure an accurate molecular diagnosis of this syndrome. 相似文献