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Resume Introduction L’induction therapeutique dans les formes tres inflammatoires de sclerose en plaques remittente recurrente (SEP-RR) est une strategie interessante, jusqu’a maintenant limitee a la mitoxantrone. Observations Nous rapportons l’evolution clinico-radiologique rapidement favorable de trois patientes ayant une forme tres active de SEP-RR, des le premier mois apres l’initiation du traitement par natalizumab. Discussion Chez les trois patientes decrites, le natalizumab a montre une efficacite precoce, avec disparition du rehaussement des lesions par le gadolinium sur l’IRM realisee un mois apres l’initiation du traitement. Une strategie d’induction par natalizumab pourrait etre une option interessante chez les patients ayant une forme agressive de SEP-RR.

Resume Introduction Les lesions cavitaires, definies par une degenerescence kystique de la substance blanche, ont ete decrites dans des atteintes hereditaires de la substance blanche (« leucodystrophies »). Cette atteinte est une des caracteristiques du childhood ataxia with central nervous system hypomyelination syndrome (CACH). Elles n’ont pas ete decrites dans la sclerose en plaques. Methodes Nous rapportons une serie retrospective multicentrique de 20 patients atteints de sclerose en plaques et presentant de larges lesions cavitaires. Les donnees cliniques, biologiques, electrophysiologiques, moleculaires et IRM ont ete collectees. Resultats Vingt patients ont ete inclus dans cette etude (6 hommes et 14 femmes). L’âge moyen au debut de la maladie etait de 37,6 ans (extremite 17–58 ans) et la duree moyenne d’evolution de 10 ans (extremite 2–20 ans). La moitie des patients (10/20) etait une forme primaire progressive. Le score EDSS moyen etait de 5,5 (extremite 2–8). Le score MMS moyen etait a 20/30. La recherche genetique de mutation du gene EIF2B codant pour le CACH syndrome a ete recherchee dans 7 cas et a toujours ete negative. Les lesions cavitaires etaient strictement supratentorielles et localisees au sein d’une leucopathie diffuse, avec une predominance posterieure chez la plupart des patients. Conclusion Les formes cavitaires de sclerose en plaques semblent representer un sous-groupe de patients caracterisee par une evolution clinique severe (forme primaire progressive, scores EDSS eleves et atteinte cognitive severe).

BACKGROUND AND PURPOSE: Multiple sclerosis (MS) patients can present with atypical cavitary lesions mimicking vanishing white matter disease (VWMD). Our objective was to identify brain magnetic resonance imaging (MRI) findings that differentiate these two disorders. METHODS: A cross-sectional study was performed including 14 patients with MS with cavitary lesions and 14 patients with VWMD. Two neuroradiologists retrospectively reviewed the MRI including at least T1-, T2- and fluid-attenuated inversion recovery weighted images. RESULTS: The main differences included ovoid lesions perpendicular to the lateral ventricle, punctate isolated juxtacortical lesions (both 100% in MS versus 0% in VWMD) and symmetrical infratentorial hyperintensities (0% in MS versus 50% in VWMD). Other statistically significant differences included midbrain (79% in MS versus 29% in VWMD) and thalamus lesions (71% vs. 7%) as well as extensive external capsule involvement (29% vs. 86%) and extensive corpus callosum lesions (64% vs. 100%). Cavitary lesions usually had periventricular predominance in MS (36% vs. 0%) whereas they were more frequently anterior in VWMD (0% in MS versus 57% in VWMD). CONCLUSION: Despite many similar MRI findings, our results suggest that a careful analysis of the morphology and the location of the lesions is helpful to differentiate these distinct disorders.

International audience; Etiologic diagnosis of adulthood leukodystrophy is challenging in neurologic practice. We describe here the clinico-radiological features of a novel autosomal dominant leukodystrophy in a single family. Clinical and MRI features were recorded in a three generation family. Exome sequencing was performed in two affected relatives and one healthy member. Four total relatives (3 women and 1 man, mean age at onset: 45, range 32-59) were followed: 2 for migraine and 2 for cognitive loss. MRI features were homogeneous in the four affected relatives: extensive and symmetrical white matter hyperintensities on T2-weighted images, with a posterior predominance, involvement of the middle cerebellar peduncles, corpus callosum and the posterior limb of the internal capsules. An extensive metabolic screening was negative. In addition, sequencing of pathogenic genes involved in dominant leukodystrophies (NOTCH3, LMNB1, GFAP, CSF1R) was negative. No mutation has been identified yet with exome sequencing. This report is peculiar because of dominant inheritance, adult onset, highly homogeneous white matter hyperintensities on T2-weighted MR images, predominant in the middle cerebellar peduncles and posterior part of internal capsule and absence of mutation of the genes involved in dominant leukodystrophies.

Discussion The spectrum of COL4A1-related disorders includes perinatal cerebral hemorrhage and porencephaly [2] , cerebral small vessel disease with retinal arteriolar tortuosity and leukoencephalopathy [3] , HANAC syndrome (Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps) and other eye abnormalities, including the Axenfeld-Rieger anomaly and cataract. A frequent white matter involvement is reported [3, 4] . Interestingly, some HANAC patients may have a normal brain MRI. However, except for one patient who suffered from migraine, these patients were free from neurologic symptoms [5, 6] . Recently, Weng et al. [7] reported COL4A1 variants in 2/96 patients with sporadic ICH. Their phenotype was not described in Introduction Ten to fifteen percent of strokes are related to an intracerebral hemorrhage (ICH). Etiologies are mainly arterial hypertension, amyloid deposition, and vascular malformations. In cases of a young age without vascular risk factors and vascular malformations, a genetic cause has to be suspected, especially a mutation in the gene coding for type IV collagen alpha 1 (COL4A1) [1] . We report a COL4A1 gene mutation in a 45-year-old woman with an isolated ICH in the absence of any other MRI abnormality, which further extends the clinical spectrum of COL4A1 mutations.

Background and Purpose Approximately 30% of strokes are cryptogenic despite an exhaustive in-hospital work-up. Analysis of clot composition following endovascular treatment could provide insight into stroke etiology. T-cells already have been shown to be a major component of vulnerable atherosclerotic carotid lesions. We therefore hypothesize that T-cell content in intracranial thrombi may also be a biomarker of atherothrombotic origin. Materials and Methods We histopathologically investigated 54 consecutive thrombi retrieved after mechanical thrombectomy in acute stroke patients. First, thrombi were classified as fibrin-dominant, erythrocyte-dominant or mixed pattern. We then performed quantitative analysis of CD3+ cells on immunohistochemically-stained thrombi and compared T-cell content between “atherothrombotic”, “cardioembolism” and “other causes” stroke subtypes. Results Fourteen (26%) thrombi were defined as fibrin-dominant, 15 (28%) as erythrocyte-dominant, 25 (46%) as mixed. The stroke cause was defined as “atherothrombotic” in 10 (18.5%), “cardioembolism” in 25 (46.3%), and “other causes” in 19 (35.2%). Number of T-cells was significantly higher in thrombi from the “atherothrombotic” group (53.60 ± 28.78) than in the other causes (21.77 ± 18.31; p

Introduction Les patients qui presentent une forme cavitaire de sclerose en plaques (SEP) et ceux qui presentent un syndrome childhood ataxia with cerebral hypomyelination (CACH) peuvent se presenter avec des IRM similaires. Objectifs Identifier les anomalies IRM qui permettent de differencier ces 2 entites. Methodes Nous avons effectue une analyse retrospective des donnees d’imagerie de 28 patients avec une sclerose en plaque cavitaire (n = 14) ou un syndrome CACH (n = 14). Deux neuroradiologues ont analyse en aveugle les donnees IRM selon une grille predefinie etudiant les caracteristiques (topographie, type, etc.) des hypersignaux et de l’atrophie dans ces 2 groupes. Resultats Quatorze patients de chaque groupe ont ete inclus. L’âge au debut de la maladie etait respectivement de 40 ans (SEP cavitaires) contre 33 ans (CACH) pour des durees d’evolution de 9 et 2 ans. Seuls les patients SEP presentaient une atteinte thalamique, des hypersignaux callosofuges et des lesions juxtacorticales punctiformes. L’atteinte du mesencephale et les cavitations perivasculaires etaient egalement plus frequentes chez les SEP. Les patients CACH avaient plus frequemment des lesions isointenses au LCR. Discussion La presentation clinique de ces 2 maladies est parfois tres proche caracterisee par des troubles de la marche et de l’equilibre. De meme les IRM des ces 2 groupes patients presentent de nombreuses similitudes. Malgre cela, une analyse precise de certaines regions (thalamus, corps calleux, regions sous corticales et fosse posterieure notamment) ainsi qu’une analyse qualitative de ces lesions permettent le plus souvent d’etablir le diagnostic. Conclusion Meme si la presentation clinique et IRM des SEP cavitaires et des CACH est parfois tres proche, une analyse detaillee et qualitative de l’IRM cerebrale doit permettre de distinguer ces 2 entites.