Mésusage traditionnel du camphre: un danger oublié pour les enfants (à propos de 2 cas)

Dans notre pays, le recours aux recettes de médecine traditionnelle et aux produits cosmétiques artisanaux est très fréquent en raison du taux élevé d'analphabétisme, du faible pouvoir d'achat et du grand nombre d'herboristes. Le camphre est un produit peu coûteux, facilement accessible et omniprésent dans presque toutes les maisons, le rendant potentiellement toxique en cas de mauvaise utilisation, en particulier chez les enfants. Nous rapportons ici l'histoire de 2 cas d'intoxication consécutifs à une recette de beauté à base de camphre en poudre. L'anamnèse donne des informations sur un empoisonnement par une poudre synthétique à base de camphre importé de Chine chez 2 enfants. Patiente 1: fille âgée de 2 mois, sans antécédents, admise aux urgences pédiatriques dans un état de pleurs incessants avec refus de manger. L'examen clinique est sans caractéristique particulière. Le test biologique standard était normal. Le nourrisson était sous surveillance neurologique, digestive et cutanée. Patiente 2: jeune fille de 6 ans admise à la suite d'une crise atonique avec syncope et mousse, suivie d'une douleur abdominale accompagnée d'une douleur abdominale accompagnée de vomissements alimentaires consécutifs à l'ingestion de lait. L'évolution était favorable après 48 heures de prise en charge symptomatique. L'entretien avec les mères a révélé qu'il s'agissait de deux voisins qui avaient reçu une recette traditionnelle pour le soin des cheveux d'un troisième voisin, après quoi ils avaient mélangé du camphre en poudre avec de l'huile d'olive, puis l'avaient appliquée pendant 1 heure sur les cheveux de leurs enfants, provoquant ainsi l'apparition de ces signes

Clinical and genetic data of Huntington disease in Moroccan patients

Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin.Methods: Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics.Results: Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754).Conclusion: Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.Keywords: Huntington disease/diagnosis, Huntington disease/epidemiology, Huntington disease/genetics, Trinucleotide repeat expansio

Clinical and genetic data of Huntington disease in Moroccan patients

Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10 /100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin. Methods: Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics. Results: Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 \ub1 0.54, and 45.37 \ub1 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754). Conclusion: Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function