Malek Mansour

Cerebral Venous Thrombosis: Clinical Features, Risk Factors, and Long-term Outcome in a Tunisian Cohort

BACKGROUND Data from African countries regarding diagnosis, prognosis, management, and outcome of patients with cerebral venous thrombosis (CVT) are limited. The aim of the present study is to characterize clinical presentation, predisposing factors, neuroimaging findings, and outcomes of the disease in the Tunisian population. METHODS This is a prospective study including patients referred to the Neurology Department of the Military Hospital of Tunis between January 2009 and December 2012. The diagnosis of CVT was confirmed in all patients using magnetic resonance imaging and magnetic resonance venography. The demographic, clinical, radiological, and outcome data were recorded and analyzed. Median follow-up was 16 months (range 6 months to 4 years). Primary outcome was death or dependency as assessed by modified Rankin score more than 2 at the end of follow-up. RESULTS This study included 41 patients with CVT. Mean age was 41.24 years, predominantly women (68%). The mode of onset was acute in 10 patients (24%), subacute in 26 (64%), and chronic in 5 (12%). The most common presenting features were headache, observed in 83% of the patients, followed by seizures, focal motor deficits, papilledema, and mental status changes. Lateral (56%) and superior longitudinal (51%) sinuses were the most commonly involved. Multiple sinuses were involved in 46% of cases. Nineteen patients (46%) had a D-dimer level more than 500 ng/mL. Major causes of CVT were thrombophilia (56%), either genetic or acquired, obstetric and gynecological (50%), and septic (34%). Outcome was favorable in 83% of patients. At the end of follow-up, 32 patients (78%) had complete recovery (modified Rankin Scale [mRs] score 0-1), 2 (5%) had partial recovery (mRs score 2), and 4 (10%) were dependent (mRs score 3-5). One patient (2.5%) had a recurrent sinus thrombosis. CONCLUSIONS Our Tunisian population presented distinct risk factors profile with high frequency of thrombophilia, infections, and postpartum state. Oral contraceptive use is not a major risk factor in our population. The overall prognosis was good.

Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients.

OBJECTIVE The present study evaluated the role of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms and correlated these results with plasma homocysteine (Hcy) levels in Tunisian ischemic stroke (IS) patients. METHODS Overall, 84 patients with IS were included and compared with 100 healthy controls. The most common stroke risk factors were investigated. Fasting plasma Hcy levels were measured. Genotyping of the MTHFR C677T and A1298 polymorphisms was studied by polymerase chain reaction. RESULTS Aside from tobacco and alcohol use, the other studied factors were significant risk factors for IS. Mean plasma Hcy levels were significantly higher in IS patients than in controls (16.1 ± 8.28 μmol/L versus 8.76 ± 3.48 μmol/L, P < 10(-3)). Significant associations were found with both the MTHFR 677(CT + TT) and 1298 (AC + CC) genotypes in comparison with controls (P < 10(-3)). A significant synergistic interaction was also found with the double heterozygote MTHFR 677CT/1298AC (P < 10(-3)). Homocysteine levels were significantly higher in IS patients with the MTHFR C677T variant (CT and TT genotypes) (P < 10(-3)); however, the difference was not significant with the MTHFR A1298C variant (AC and CC genotypes) (P = .31). CONCLUSION The MTHFR C677T and A1298 polymorphisms (individually or in concert) and hyperhomocysteinemia represent important risk factors for IS. Elevated Hcy levels were found to be associated with the MTHFR C677T variant; however, no significant association was found with the MTHFR A1298C variant.

Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer's disease

BACKGROUND Genetic risk factors play an important role in the pathogenesis of Alzheimers disease (AD). In this case-control study, we examined the C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and their correlation with this pathology. OBJECTIVE To verify the association between MTHFR C677T and A1298C polymorphisms and Alzheimers disease. METHOD This work was conducted as a case-control study. Cases consisted of thirty-eight patients and 100 individuals without dementia constituted the control group. Genotyping of MTHFR polymorphisms was performed on patients and controls. RESULT Genetic analyses did not indicate a significant association between the MTHFR C677T mutation and AD (C/T: 63.15% versus 39%, p=0.087). However, the genotype prevalence of the missense variant MTHFR A1298C was significantly different between patients and controls (A/C: 55% versus 7%, p<10(-3)). Our data suggest an association between the MTHFR A1298C mutation and AD; however, the MTHFR C677T mutation did not contribute to susceptibility for AD. CONCLUSION The MTHFR A1298C polymorphism is a possible risk factor for Alzheimers disease.

Apolipoprotein E Genotypes Associated with Alzheimer Disease and Concomitant Stroke

BACKGROUND The ɛ4 allele of the apolipoprotein E (APOE) gene is a well-characterized genetic risk factor for Alzheimer disease (AD). The association between stroke and a higher risk for AD has also been reported. Our study sought to determine the relationship between the APOE gene and AD and the comorbid risk of stroke. METHODS The subjects of this study consisted of 48 patients with AD and 48 members of a control group. All subjects were genotyped for APOE. RESULTS The results clearly show a significant increased risk of AD in carriers of the APOE ε3/ε4 genotype (P = .003, odds ratio [OR] = 4.1) or ε4 allele (P = .001, OR = 4.2). The risk for stroke in AD patients was also increased for carriers of the APOE ε3/ε4 genotype (P = .02, OR = 9.0) and for carriers of the APOE ε4 allele (P = .004, OR = 5.5). CONCLUSIONS The present study is the first to establish a relationship between APOE ε4 and concomitant AD and stroke in the Tunisian population.

Association of HLA-DR/DQ polymorphism with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in Tunisian patients.

BACKGROUND AND OBJECTIVE Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune-mediated disorder of the peripheral nervous system (PNS). The aim of this study was to investigate associations between HLA-DR/DQ alleles and CIDP in Tunisian patients. PATIENTS AND METHODS HLA DR/DQ genotyping was performed using polymerase chain reaction sequence-specific primers (PCR-SSP) with 36 CIDP patients and 100 healthy individuals serving as the control group. RESULTS CIDP in Tunisian patients was found to be associated with the HLA-DRB1*13 allele (pc=0.03) (where pc denotes the Bonferroni corrected probability value). Moreover, the two haplotypes, DRB1*13/DQB1*06 (22.22% of patients vs. 8.5% of controls, pc=0.017) and DRB1*07/DQB1*03 (13.88% of patients vs. 3% of controls, pc=0.005), were found to confer a susceptibility to CIDP. CONCLUSION To our knowledge, this is the first study performed to analyze the association of HLA-DRB1/DQB1 alleles on CIDP susceptibility in a Tunisian population.

Transient global amnesia like syndrome associated with acute infarction of the corpus callosum: a case report

The corpus callosum (CC) constitutes the largest white matter bundle and it connects the two cerebral hemispheres [1]. Infarction of the CC is rare. The clinical picture varies from an acute onset to slow evolving symptoms, frequently with poor localizing signs; however, the location of the infarct in the callosum often correlates with a specific etiology [2]. In previous studies, lesions in the CC caused permanent, but not transient global amnesia (TGA) by involving the thalamocortical portion of the Papez’ circuit. We present a patient with TGA like syndrome after a corpus callosum infarct to highlight its involvement in cognitive impairments. We discuss the pathophysiology of this rare entity and the more important clinical symptomatologies.

Recurrent cerebral venous thrombosis revealing celiac disease: an exceptional case report.

Celiac disease (CD) is an autoimmune disorder that occurs in genetically predisposed individuals in response to ingestion of gluten. Classical forms revealed by the triad malabsorption, diarrhea and abdominal pain represent only 10–20 % of cases and clinical presentation is often polymorphic [1]. Thrombotic events may occur in CD, and thrombosis is usually of atypical site (abdominal veins) [2]. Cerebral venous thrombosis (CVT) is rarely reported during CD and is exceptionally a revealing mode [3, 4]. We report on CD revealed by a recurrent CVT.

Occipital Sinus Thrombosis: An Exceptional Case Report

BACKGROUND Variations of the dural venous sinuses may result in inaccurate imaging interpretation or complications during surgical approaches. One variation of the dural venous sinuses reported infrequently in the literature is the occipital sinus. We report an exceptional case of occipital sinus thrombosis. CASE REPORT A 48-year-old right-handed man with a 5-month history of hypertension and chronic renal failure presented with cephalalgia, vomiting, and blurred vision evolving over 48 hours. Neurological examination revealed papillary edema stage 1 with no others abnormalities. An initial brain computed tomography (CT) scan performed was normal. The opening pressure of cerebrospinal fluid (CSF) was 35 cmH2O with normal level of protein and no hypercellularity in CSF analysis. The evolution was marked by the occurrence of generalized tonic-clonic seizure. A second CT scan performed showed a hyperdensity of the occipital sinus. Magnetic resonance imaging and magnetic resonance venography studies confirmed the diagnosis with highlighting the thrombosis of the occipital sinus in association to an ectasia of the torcular. The patient received adequate anticoagulation for 6 months in association to antiepileptic drugs with a good evolution. DISCUSSION According to our review, such a thrombosis must be a rare condition, because our literature search has shown a lack of any report describing this condition. Herein, we review the anatomy of the occipital sinus and we illustrate the characteristics of this unusual thrombosis with multiple imaging modalities. CONCLUSION Understanding of the cerebral venous anatomy and recognition of venous variations essentially help when dealing with a pathology, which presents along with a particular venous variation, no matter how rare this combination is.

Recurrent status epilepticus in posterior reversible encephalopathy syndrome as initial feature of pediatric lupus: A newly diagnosed case and literature review

INTRODUCTION Posterior reversible encephalopathy syndrome (PRES) is a recently described clinico-neuroradiological syndrome with several predisposing conditions. Systemic lupus erythematosus (SLE), beginning in 15-20% in childhood, is considered as a potential underlying etiology of PRES. In children, status epilepticus (SE) rarely complicates PRES, and exceptionally occurs in SLE. METHODS We report on an illustrative case of PRES complicating pediatric lupus revealed by recurrent SE, and we further review through a Pubmed search the previously reported cases of pediatric SLE, PRES and SE. RESULTS We describe the case of a 12-year old girl who presented with recurrent status epilepticus associated to high blood pressure and renal involvement. Brain imaging showed classical aspects of PRES. Immunological tests including antinuclear, anti-DNA, and anticardiolipin antibodies were positive. The diagnosis of SLE was established. The Pubmed search identified a total number of 9 children with SE in SLE, and 26 with PRES, including our patient. CONCLUSIONS We discussed the clinical and paraclinical features of PRES in SLE with epilepsy, their underlying pathophysiological aspects, and their management challenges. PRES should be considered in initial recurrent SE in children, justifying a battery of tests comprising immunological testing. Anticardiolipin antibodies seem to play a crucial role in epilepsy, PRES and renal involvement in pediatric SLE. Further studies are needed to clarify whether PRES should be considered one of the neuropsychiatric manifestations of SLE or a consequence of active disease in other organ systems or its treatment.

Les manifestations neurologiques de la sarcoïdose : étude de 18 cas

INTRODUCTION Sarcoidosis is a multisystemic granulomatous disease of unknown aetiology. Neurologic manifestations are found in 5 to 10% of cases. PATIENTS AND METHODS We conducted a retrospective study over 6-year period including 18 patients diagnosed with neurosarcoidosis in the Neurologic department of the Military Hospital of Instruction of Tunis. Clinical, radiological, therapeutic features and outcome were studied. RESULTS The mean age was 43.44 years. Neurologic signs were the first symptom in 10 cases. Peripheral nervous system impairment was often found. Meningitis was noted in 8 cases. Biological tests are not contributive for the diagnosis. The brain magnetic resonance imaging was pathologic in 10 cases. Corticosteroids were administrated in the majority of cases. Eight patients did not show any sign of improvement. Ten cases improved with treatment. DISCUSSION AND CONCLUSION Diagnosis of neurosarcoidosis is difficult because of its clinical and radiological polymorphism. It is based on a clinical history suggestive of neurosarcoidosis, laboratory, imaging and histological studies.