Transient neonatal myasthenia gravis (TNMG) and neonatal lupus are rare conditions due to the transplacental passage of antibodies. We describe a unique case of TNMG, revealing a myasthenia gravis (MG) associated with systemic lupus erythematosus (SLE) in the mother. J. M., 8 days of age, was admitted for jaundice. Examination revealed poor sucking, facial weakness, and hypotonicity. TNMG was confirmed with a high level of antiacetylcholine receptor antibodies in the infant and his mother. No sign of neonatal lupus was observed. Clinical recovery was obtained. The elder brother had autism. In case of previous maternal MG, a low percentage of infants develop TNMG (10 to 20%), but monitoring is required at birth. Improvement is usually obtained within 3 weeks. No correlation has been found between maternal symptoms, antibodies titer, and signs of TNMG. Most cases of neonatal lupus are associated with positive anti-SSA/SSB antibodies in the mother. Both conditions, MG and SLE, are reported, but pregnancies are very few. Autism in the brother focuses on its relationship with immune diseases.

Dysembryoplastic neuro-epithelial tumors (DNET) are glioneuronal tumors with a common astrocytic or oligodendroglial differentiation. We report a case of DNET with an ependymal differentiation. A 13 years-old girl had refractory focal seizures for 3 years. Successive MRI showed a stable cortical lesion of the right temporal lobe with DNET characteristics. The lesion was resected. Histological examination revealed a pure ependymal differentiation characterized by perivascular pseudorosettes containing EMA immunoreactive cells. Mib1 positive cells were absent. In spite of histologic features of ependymoma, this tumor showed clinical, radiological and behaviour characteristics of DNET. We are not aware of any other case of DNET with ependymal differentiation in the literature. Our observation suggests that the glial component of DNET may show an ependymal differentiation.

INTRODUCTION:Decompression sickness with cerebral ischemic lesions occurs even in divers who have not committed any technical error. This study sought to determine whether an acquired or inborn thrombophilic factor might be involved.METHODS:44 divers with ischemic medullar lesions (36 men, 8 women, mean age 39.9+/-4.7 yr) were compared with 44 controls (34 men, 10 women, mean age 38.2+/-5.1 yr). Coagulation screening included proteins S, C, and thrombin III and Factor VIII assays and circulating antibodies, Factor V Leiden, and mutation G20210A in Factor II gene research. Total plasma homocysteine (Hcy), an atherosclerosis factor (assayed by FPIA), folate and vitamin B12, (by microbiology), the cofactors of its metabolism, were assayed, and subjects were genotyped for mutation C677T on the MTHFR gene.RESULTS:Coagulation screening--protein C, protein S, or antithrombin III deficit or mutation G20210A--was negative in all divers. 3/44 divers were heterozygous for Factor V Leiden, 1/44 had IgG antiphospholipid antibodies (9p.cent). While not found in controls, these percentages were not greater than those reported in the general population. 3/44 divers had elevated Factor VIII levels, but repeat assays on Day 2 were much lower. 11/44 divers had a moderate increase in Hcy value (20p.cent): in 7 divers, Hcy values were>15 micromol/L, and in 4 others>12, vs. 2.3p.cent of the controls; 2/11 had normal vitamin levels and 11 divers had folate or vitamin B12 deficiency or both, vs 2.3p.cent controls with a vitamin B12 deficit (percentage significantly different). 7/26 divers were homozygous for the C677T mutation, i.e. 27p.cent vs 12p.cent of 98 healthy controls (laboratory technicians).CONCLUSIONS:A high percentage of unexplained diving accident victims had moderate HHC, a folate or vitamin B12 deficiency or both, that are easy to detect, plus a genetic predisposition to HHC or to coagulation abnormality. Easy-to-perform homocysteine, vitamin B12, and folate assays might prove helpful for primary prevention of diving accidents.

Nutritional factors and comedications are among the postulated causes of fatigue, a highly prevalent symptom in the multiple sclerosis (MS) population, with serious impact on patients' quality of life. Deficiency of carnitine may play a role by reducing energy production through fatty acid oxidation and numerous MS therapies can induce fatigue syndrome. The aim of this prospective open-labelled study was to collect and study serum carnitine levels in MS patients with and without disease-modifying treatment-induced fatigue syndrome. We investigated whether restoration of the carnitine pool might improve treatment-induced fatigue in MS patients. In our study, there was no statistical difference in fatigue frequency between treated and untreated patients (P=0.5). Matched to age, gender and treatments, carnitine levels were lower for MS treated patients compared to untreated MS patients (P <0.05) or controls (P <0.001). Consecutive patients with low plasma carnitine levels who experienced fatigue were substituted. Treatment consisted of oral levocarnitine, 3-6 g daily. All patients achieved normal plasma carnitine levels. For 63% of patients treated with immunosuppressive or immunomodulatory therapies, oral levocarnitine adjunction decreased fatigue intensity, especially in patients treated with cyclophosphamide and interferon beta.

Introduction. Decompression sickness with cerebral ischemic lesions occurs even in divers who have not committed any technical error. This study sought to determine whether an acquired or inborn thrombophilic factor might be involved. Methods. 44 divers with ischemic medullar lesions (36 men, 8 women, mean age 39.9+/-4.7yr) were compared with 44 controls (34 men, 10 women, mean age 38.2+/-5.1 yr). Coagulation screening included proteins S, C, and thrombin III and Factor VIII assays and circulating antibodies, Factor V Leiden, and mutation G20210A in Factor II gene research. Total plasma homocysteine (Hcy), an atherosclerosis factor (assayed by FPIA), folate and vitamin B12, (by microbiology), the cofactors of its metabolism, were assayed, and subjects were genotyped for mutation C677T on the MTHFR gene. Results. Coagulation screening - protein C, protein S, or antithrombin III deficit or mutation G20210A - was negative in all divers. 3/44 divers were heterozygous for Factor V Leiden, 1/44 had IgG antiphospholipid antibodies (9p.cent). While not found in controls, these percentages were not greater than those reported in the general population. 3/44 divers had elevated Factor VIII levels, but repeat assays on Day 2 were much lower. 11/44 divers had a moderate increase in Hcy value (20p.cent): in 7 divers, Hcy values were > 15 mu mol/L, and in 4 others > 12, vs. 2.3p.cent of the controls; 2/11 had normal vitamin levels and 11 divers had folate or vitamin 812 deficiency or both, vs 2.3p.cent controls with a vitamin B12 deficit (percentage significantly different). 7126 divers were homozygous for the C677T mutation, i.e. 27p.cent vs 12p.cent of 98 healthy controls (laboratory technicians). Conclusions. A high percentage of unexplained diving accident victims had moderate HHC a folate or vitamin B12 deficiency or both, that are easy to detect, plus a genetic predisposition to HHC or to coagulation abnormality. Easy-to-perform homocysteine, vitamin B12, and folate assays might prove helpful for primary prevention of diving accidents.

UNLABELLED In divers with a vascular disease in decompression sickness, who have not committed any technical error, thrombophilic risk factors were sought. Six cases of confirmed divers, without diving technical error, were investigated. Thrombophilic screening included proteins C, S, antithrombin III, and factor VIII assays, and circulating antibodies, Factor V Leiden, and mutation G20210A mutation in Factor II gene research. Total plasma homocysteine (Hcy), an atherosclerosis factor, even when slightly increased, nutitional factors: folate and vitamins B12 and B6, the cofactors of its metabolism, and inversely correlated with Hcy values, were assayed, and subjects were genotyped for mutation C677T in the MTHFR gene. RESULTS In five divers, Hcy values were moderately increased, and in all the six, folate and/or B12 values were decreased. Three of them showed a genotype TT (mutation C677T), two, the genotype CT, and the sixth, an heterozygous Factor V Leiden. In these divers, a predisposition for vascular diseases, was detected, which was partially curable.

introduction. The imaging presentation of some forms of multiple sclerosis may be misleading. In patients with a history of recent infection or vaccination, especially for adolescents or young adults, the differential diagnosis with acute disseminated encephalomyelitis can be difficult. Case report. We report an unusual clinical and radiological presentation of multiple sclerosis, mimicking acute disseminated encephalomyelitis. We discuss clinical and radiological differential diagnosis, and the outcome after immunosuppressive treatment. Conclusion. Distinguishing between acute disseminated encephalomyelitis and the first relapse of multiple sclerosis can be diffficult. Brain imaging is a precious tool for differentiating between the two diseases.

L'épendymome est une tumeur rare, un peu plus fréquente chez l'enfant que chez l'adulte, représentant environ 4 % des tumeurs du système nerveux central. La classification de l'Organisation mondiale de la santé distingue quatre types de tumeurs épendymaires : l'épendymome et ses variantes, l'épendymome anaplasique, l'épendymome myxopapillaire et le subépendymome. L'épendymome, développé à partir des cellules épendymaires, peut avoir une situation intraventriculaire ou paraventriculaire, exceptionnellement intraparenchymateuse. Deux aspects architecturaux sont caractéristiques de ces lésions modérément cellulaires : les pseudorosettes périvasculaires et les rosettes épendymaires vraies. Cette tumeur, de localisation sus- ou sous-tentorielle, s'exprime le plus souvent par une hypertension intracrânienne, les signes de localisation n'inaugurant le tableau clinique que dans 20 % des cas. La qualité de l'exérèse chirurgicale a un impact pronostique important, la récidive étant essentiellement locale. La radiothérapie focale est considérée comme le traitement standard en postopératoire. Son utilisation devient moins systématique pour les lésions de bas grade et pour lesquelles l'exérèse a été complète. Le rôle de la chimiothérapie reste à préciser ; elle permet essentiellement de différer l'utilisation de la radiothérapie chez les enfants les plus jeunes. Le pronostic de cette tumeur a bénéficié des progrès thérapeutiques avec une survie à 5 ans estimée à 60 %.

The imaging presentation of some forms of multiple sclerosis may be misleading. In patients with a history of recent infection or vaccination, especially for adolescents or young adults, the differential diagnosis with acute disseminated encephalomyelitis can be difficult.We report an unusual clinical and radiological presentation of multiple sclerosis, mimicking acute disseminated encephalomyelitis. We discuss clinical and radiological differential diagnosis, and the outcome after immunosuppressive treatment.Distinguishing between acute disseminated encephalomyelitis and the first relapse of multiple sclerosis can be difficult. Brain imaging is a precious tool for differentiating between the two diseases.

Les gliomes malins demeurent le problème majeur de la neuro-oncologie, par leur fréquence, leur gravité et les difficultés de traitement qu’ils posent. Les étapes de diagnostic clinique et neuroradiologique sont bien établies et performantes ; la stabilité de ces acquis contraste avec le paradoxe des avancées de la recherche biologique qui demeurent sans conséquence pratique, sinon de susciter une multitude de protocoles de recherche clinique. En neuropathologie des gliomes malins, les nouvelles méthodes d’immunohistochimie et de génétique moléculaire font entrevoir les insuffisances des seuls aspects morphologiques au profit de critères d’ontogenèse cellulaire auquel le neuropathologue n’avait pas accès antérieurement. Ces données de biologie moléculaire et de génétique tumorale sont attendues en routine pour établir des diagnostics précis guidant les stratégies de traitement spécifique de chaque type tumoral. En neurochirurgie, le lien entre l’étendue des exérèses et la durée de survie a été établi et la chirurgie « optimale » aidée par les nouvelles technologies peropératoires est devenu le temps essentiel du traitement initial et parfois de la récidive des gliomes. Surtout, le développement des méthodes de nanoneurochirurgie, d’implantation in situ d’agents cytotoxiques ou immunomodulateurs et les réponses obtenues par ces dépôts ouvrent un champ d’actions thérapeutiques imaginées de longue date, mais demeurées virtuelles faute de disposer des technologies adéquates de mise en œuvre. En radiothérapie, les méthodes d’imagerie, les algorithmes de recalage conformationnel et de dosimétrie ont permis la réduction considérable des effets iatrogènes mais les résultats obtenus sont encore modestes et surtout transitoires. En chimiothérapie, les obstacles pharmacocinétiques, le faible nombre de molécules disponibles et les capacités innées ou acquises des systèmes de chimiorésistance et de réparation des lésions alkylantes sont retenus pour rendre compte de la médiocrité de l’apport objectif pour les patients, mais il y a espoir : des sous-groupes chimiosensibles peuvent être identifiés, de nouvelles molécules (fotémustine, témozolomide) et surtout les antagonistes des boucles de prolifération cellulaire, autocrines et paracrines, font envisager la mise à disposition des cliniciens de nouvelles associations et espérer des complémentarités d’action. Enfin, les multiples possibilités de l’immunothérapie et des thérapies géniques sont en exploration dans des études de phase I et II ; elles tentent de combler cette distance entre les connaissances acquises par la recherche fondamentale et les résultats obtenus en clinique. Au total, les gliomes malins demeurent d’un pronostic très défavorable, mais les avancées des méthodes diagnostiques et thérapeutiques sont certaines ; dès à présent, quelques types tumoraux relèvent de traitements spécifiques qui montrent que ces nouvelles approches dérivées des recherches en oncogenèse sont possibles et valident les théories biologiques qui les sous-tendent.

BACKGROUND:Favorable prognostic factors for oligodendroglial tumors include age younger than 40 years, low tumor grade, and extent of resection.OBJECTIVE:To assess survival time and prognostic factors of 100 patients with oligodendrogliomas diagnosed between 1995 and 2002.METHODS:The tumors were rated histologically by the WHO classification as low grade (grade II) or anaplastic (grade III). One hundred patients were categorized into three groups: group A: grade II, group B: secondary grade III (low grade with anaplastic transformation during the follow-up), group C: de novo grade III. All patients were symptomatic at presentation and underwent neurosurgical procedure for histologic diagnosis. Follow-up was performed with clinical assessment, brain MRI, and MIBI scintigraphy.RESULTS:There were 66 men and 34 women (mean age at diagnosis 46.7 years). The most common first symptom was partial epileptic seizure (75%). Fifty-six patients had initial gadolinium enhancement (A: 15.6%; B: 36.8% as grade II, 95% as grade III; C: 90%), generally associated with MIBI hypermetabolism (p < 0.0001). Survival rates at 2, 5, and 10 years were A: 88%, 88%, 85%; B: 79%, 64%, 42%; C: 43%, 16%, 15%.CONCLUSIONS:Secondary anaplastic oligodendroglioma patients were younger than patients with de novo anaplastic oligodendrogliomas. Histologic confirmation is mandatory because some low grade oligodendrogliomas had gadolinium enhancement on MRI and some anaplastic did not. Survival time was longer for secondary than for de novo anaplastic oligodendrogliomas without difference in the duration of the malignant phase of the disease.

Introduction. Magnetic resonance imaging (MRI) has transformed management of patients with multiple sclerosis. The exact contribution of brain MRI remains a subject of debate, but it is generally considered to provide a more specific and more sensitive outcome measure for monitoring purposes and for testing new therapies. The choice of MRI techniques, and measurement reproducibility for multiple sclerosis brain lesions are not defined with precision for routine practice. There are many sources of error when comparing successive images which can be overcome to some extent with repositioning and image processing techniques. Methods. We evaluated the impact of image repositioning on treatment decision-making for twelve relapsing remitting patients. Brain MRIs were performed every three months for a one-year period. Two neurologists interpreted the non -repositioned and repositioned images giving their analysis of changes in the lesions visualized on the T2 sequences and their therapeutic decisions. Results: For the first neurologist, analysis of the non-repositioned images yielded six patients whose lesions had worsened while for the repositioned images there were only three. For the second neurologist, four patients had more lesions with the non-repositioned images and only three with repositioning. The subjective interpretations were the same for the two neurologists when they used repositioned images. Conclusions: Comparison by two neurologists of non-repositioned and repositioned MRI, with no other image processing, affected the analysis and in certain cases propositions for treatment.

Introduction. Cyclophospamide is used in the treatment of progressive multiple sclerosis. We were looking for predictive indicators of treatment response. Material and methods. Forty-seven patients with secondary progressive multiple sclerosis and seven others with primary progressive received monthly infusions of cyclophosphamide (750mg/m(2)) and methylprednisolone (500mg). During the year before cyclophosphamide the EDSS had worsened one point in all patients with or without surimposed relapses. Evaluation was based on EDSS change at 6, 12, 24 months and 5 years. Results. Among secondary progressive patients, 91 per 100 (43147) were stable or improved at 12 months, 65 per 100 (26140) at 24 months and 22 per 100 (5123) at 5 years. Annual relapse rate decreased from 0.81 before treatment to 0.48 during treatment and 0.12 after treatment (p<0.001). At 24 months, efficacy was correlated to a progressive phase lasting less than 5 years (p<0.01) and to a rapid increase of EDSS of at least 2 points the year before treatment (p<0.05). There were no influences of age, EDSS and surimposed relapses at the beginning of treatment, and other immunoactive drugs administrated before cyclophosphamide. There was no significant difference in quality of response to treatment between patients with primary progressive and secondary progressive multiple sclerosis. Conclusion. Cyclophosphamide appears to be more efficient in early stage of progressive multiple sclerosis independently of age, relapses or neurological disability scale.