Mouna Aissi

Prevalence and score of minor physical anomalies in patients with schizophrenia and their first degree relatives: A Tunisian study

UNLABELLED Minor physical anomalies (MPAs) have been consistently reported to be more frequent in schizophrenia subjects. Limited research has been conducted on these anomalies among biological relatives of patients with schizophrenia. The aims of this study were to investigate the MPAs in a Tunisian population: subjects with schizophrenia, their healthy siblings and control subjects. This study hypothesized that the mean MPAs score would be greater in patients than controls and that siblings would have intermediate scores. Furthermore, it was hypothesized that MPAs scores would be associated with negative and disorganised symptoms of schizophrenia. METHODS We assessed 93 subjects with schizophrenia, 59 of their healthy siblings and 71 healthy controls, matched on gender and age. MPAs were assessed through use of a standardized scale derived from the Waldrop Scale [D. Gourion, G. Viot, C. Goldberger, M. Cartier, M.C. Bourdel, M.F. Poirier, J.P. Olié, H. Lôo, M.O. Krebs, 2001. French validation of a Minor Morphologic Anomalies Scale in schizophrenic patients and their parents. Encephale 27, 143-147]. The schizophrenia psychopathology was evaluated by the Positive and Negative Syndrome Scale (PANSS), Global Assessment of Functioning (GAF) and the Clinical Global Impression-Severity (CGI-S). RESULTS Subjects with schizophrenia showed significantly higher MPAs score than siblings (4.6 ± 2.8 vs. 3.0 ± 2.1, p<0.0001) and controls groups: 1.9 ± 1.5 (p<0.0001). Siblings had significantly higher score than control subjects (p=0.02). MPAs were correlated negatively with age of onset of the disease, and age of first hospitalisation, and positively with number of hospitalisations. Positive correlations were found between MPAs and PANSS total score, PANSS negative sub-score and CGI-S score. COMMENTS Results of this study showed that MPAs are more frequent in subjects with schizophrenia and their siblings compared to control subjects. Positive correlations were found between MPAs, age of onset, severity of illness, and negative symptoms of schizophrenia, suggesting that those anomalies are correlated to severe form of schizophrenia.

Hypertension intracrânienne idiopathique et mutation du facteur V de Leiden

Activated proteinC resistance is a frequent prothrombotic abnormality. In most cases it is due to factorV Leiden mutation by nucleotide G1691A substitution. This recently described thrombophilic defect of activated proteinC resistance has been postulated to be implicated in the pathogenesis of idiopathic intracranial hypertension (IIH). We report a case of factorV Leiden mutation in association with IIH and their likely link and implication in the management of IIH.

Anévrismes intracrâniens et sclérose tubéreuse de Bourneville : une association rare

INTRODUCTION Tuberous sclerosis is an autosomal dominant inherited phakomatosis. It is associated with a wide variety of central nervous system abnormalities, but intracranial aneurysms are rare. CASE REPORT We report a 34-year-old patient fulfilling the diagnostic criteria of tuberous sclerosis in association with intracranial aneurysm. DISCUSSION This association has been reported in only 17 other cases of tuberous sclerosis. We discuss the etiopathogenic mechanisms, preferential localizations and the various therapeutic propositions.

Maladie de Lobstein révélée par une crise convulsive

Resume L’osteogenese imparfaite (OI) est un groupe d’affections hereditaires le plus souvent reliees a une anomalie de la synthese du collagene. Les manifestations cliniques sont tres variees, les manifestations neurologiques sont exceptionnelles. Un homme de 40 ans aux antecedents de fractures multiples fut admis aux urgences pour une crise tonico-clonique generalisee d’emblee. Le bilan metabolique etait sans anomalies. Des douleurs a la moindre mobilisation de deux epaules etaient constatees, la radiographie standard ainsi que l’imagerie par resonance magnetique (IRM) des epaules confirma l’existence d’une fracture –– luxation des deux epaules. L’IRM cerebrale ainsi que l’electroencephalogramme etaient sans anomalies. Le patient fut mis sous Valproate de sodium ; il n’a pas refait de crise apres un recul de 8 mois. L’enquete etiologique a conduit au diagnostic de maladie de Lobstein.

Acute ischemic stroke revealing late-onset glycogen storage disease

Revue Neurologique - In Press.Proof corrected by the author Available online since mercredi 28 decembre 2016

Association of the IL-10 receptor A536G (S138G) loss-of-function variant with multiple sclerosis in Tunisian patients.

Interleukin‐10 (IL‐10), a potent anti‐inflammatory T‐cell cytokine, has been shown to be a regulatory cytokine that is associated with disease remission in multiple sclerosis (MS) and exerts its activity through its cognate cell surface receptor complex, IL‐10 receptor 1 (IL‐10R1) and IL‐10R2. The purpose of this study was to investigate the IL‐10R1 S138G loss‐of‐function polymorphism (A536G: rs3135932) for possible influence on susceptibility and outcome of MS in Tunisian patients. A total of 103 Tunisian MS patients and 160 control subjects were studied. Genomic DNA samples were extracted from leukocytes and used to investigate S138G polymorphism in IL‐10R1 gene by multiplex allele‐specific polymerase chain reaction. Associations between G allele [odds ratio (OR) = 5.57; 95% confidence intervals (CI) = 3.26–9.54; p = 10−7], GG genotypes [OR = 10.41; 95% CI = 2.28–47.58; p = 0.0007] and AG genotype [OR = 4.14; 95% CI = 2.16–7.93; p = 0.000016] with the risk development of MS were found. In contrast, the AA genotype seemed to be associated with protection against MS [OR = 0.17; 95% CI = 0.09–0.30; p = 10−7]. No association was found between S138G SNP and clinical features or disease activity of MS patients. In conclusion, our results suggest that S138G loss‐of‐function polymorphism of the IL‐10R1 may be important risk factor in increasing susceptibility to MS.

A Tunisian Case of Oculo-dento-digital Syndrome Revealed by Spastic Paraplegia

Oculo-dento-digital syndrome (ODD) is a rare congenital disorder that associates eye and facial abnormalities, defects in teeth enamel and type III syndactyly. It is a genetic disorder inherited in an autosomal dominant fashion and displays high penetrance but variable clinical expression. A few patients with ODD syndrome also manifest spastic paraparesis. The authors report a sporadic case with ODD syndrome, who was referred for evaluation of spastic paraplegia associated with bladder dysfunction. The report shows that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia. Cerebral MRI must be carried out to complete the phenotyping of this syndrome.