Age- and gender-specific effects on VDR gene polymorphisms and risk of the development of multiple sclerosis in Tunisians: a preliminary study.

The vitamin D receptor (VDR) polymorphisms have been reported to be associated with multiple sclerosis (MS); however, evidence remains conflicting. In this report, we investigated the association between two single nucleotide polymorphisms (SNPs) TaqI and ApaI of VDR gene and risk development of MS. TaqI and ApaI SNPs were detected by PCR-RFLP from the DNA of 60 Tunisian patients with MS and 114 healthy controls. Our results show a significant difference of the allelic frequency distribution between the case and control groups for TaqI SNP (P = 0.01), but genotype frequencies were not significantly different (P = 0.07 and 0.23). When adjusting frequency distribution of different alleles and genotypes by age, we found that the difference between the T allele frequencies of this SNP in the group of patients age [15-24] in comparison with the control group of the same age group was statistically significant (P = 0.026). Moreover, frequency of the T allele was significantly higher in male patients compared with controls of the same sex (P = 0.017). However, neither the genotype nor the allele frequency distribution was significantly different between the MS and control populations for the ApaI SNP. Our preliminary results indicate that VDR gene polymorphism could be associated with susceptibility to MS. The role of VDR gene polymorphism should be further studied in other large populations, and the distribution of other polymorphism, such as FokI and BsmI, should be also analysed to confirm another susceptibility polymorphisms gene for MS and to obtain more adequate strategies for treatment of MS.

[Idiopathic intracranial hypertension and factor V Leiden mutation]. / 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.

[Temporal lobe epilepsy due to an intracranial meningocele in a patient with neurofibromatosis type 1]. / Épilepsie temporale symptomatique d'une méningocèle intracrânienne chez une patiente atteinte de neurofibromatose de type 1.

Epilepsy has been rarely reported in patients with neurofibromatosis type 1 (formally known as von Recklinghausen disease), which may occur in 3 to 6% of cases. This condition is generally related to neuronal migration anomalies or cortical malformations. We report a case of temporal epilepsy secondary to temporal meningocele due to sphenoidal dysplasia in a patient who presented with neurofibromatosis type 1 and also discuss this association.

Serum copper, zinc and selenium levels in Tunisian patients with Parkinson's disease.

BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder. The etiology of this disease is still not fully clear, but free radicals have been proposed to cause neuronal injury. Metals play a key role in the intracellular oxidative balance. However their implication in the degeneration process remains unknown. AIM: To assess Cu, Zn and Se concentrations in serum of a group of PD patients in order to determinate, in comparison with age-matched controls, whether alteration in their levels could be involved in PD. METHODS: A serum level of 3 trace elements (Cu, Zn and Se) was investigated in 48 patients with PD and 36 matched controls using plasma atomic absorption spectrometry. We compared these parameters in PD patients with controls, and we also compared the variations within the PD group according to age, illness duration, stage of the disease and levodopa intake. RESULTS: Patients with PD had significantly lower Cu levels compared to controls. The mean Zn and Se levels in PD patients did not differ significantly from those of controls. Levodopa therapy, age, stage, and illness duration did not significantly influence the measured parameters. CONCLUSION: These results suggest that a disturbance of the plasmatic rate of Cu could be a marker of PD or at least, a risk factor for the development of this disease. Although zinc participates to the reduction of oxidative stress and the antioxidant role of the selenium, their implication in the onset of PD is not clearly established. Perspectives for the future could include antioxidant therapy. For this reason, other prospective studies should be conducted on this subject to elucidate the implication of trace elements in PD.

[Tuberous sclerosis and intracranial aneurysms: a rare association]. / 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.

[Multiple cranial nerve involvement: consider the diagnosis of cephalic tetanus. A case report and review of the literature]. / Atteinte multiple des nerfs crâniens : atteinte multiple des nerfs crâniens au cours du tétanos céphalique. À propos d'une observation et revue de la littérature.

INTRODUCTION: Cephalic tetanus is the most serious form of localized tetanus. It associates trismus with impairment of one or more cranial nerves. It was a rare condition, whose diagnosis can raise several problems. CASE REPORT: A 49-year-old-man presented multiple and unilateral cranial nerve involvement revealing cephalic tetanus. CONCLUSION: This case illustrates the importance of considering cephalic tetanus when patients present cranial nerve palsy associated with injury.

A clinical and magnetic resonance spectroscopy study of a brain tumor in a patient with segmental neurofibromatosis.

INTRODUCTION: Segmental neurofibromatosis 1 (segmental NF-1) is a rare genodermatosis caused by somatic mutations in the NF-1 gene. It consists of localized characteristic skin lesions. A serial study using magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of a brain tumor in a 16-year-old patient with segmental NF-1 is reported. CASE REPORT: A 16-year-old boy with congenital dorsal scoliosis and segmental NF-1 was evaluated for bilateral optic atrophy. Neurological examination showed an isolated tetra pyramidal syndrome. The cerebral MRI showed a bilateral brain lesion involving the basal ganglia, optic pathways, temporal lobes, and the midbrain. Serial MRSs showed a decreased N-acetylaspartate (NAA)/creatine ratio and increased choline/creatine ratio. An increase in the myoinositol (MYO)/creatine ratio and the presence of a lipid/lactate peak were also recorded. A neuroimaging follow-up with MRI and MRS performed 2 years later showed similar findings. COMMENTS AND CONCLUSION: We describe an MRS study of a brain tumor in a patient with segmental NF-1 for the first time. The MRS study showed similar findings, described earlier in rare studies of patients with the classic form of NF-1. MRS is a noninvasive technique for detecting the presence of tumor tissue in the brain through its metabolic activity. MRS plays an important role in clinical studies and it can be used to differentiate malignant and nonmalignant brain lesions from normal brain tissue.

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.

Biballism due to non-ketotic hyperglycaemia.

We describe the case of a 70-year-old woman, with type 1 diabetes mellitus, who suddenly developed a movement disorder on the left side of her body that rapidly extended to the right side, evoking biballism. There was no facial involvement and no vascular lesions on cerebral MRI but non-ketotic hyperglycaemia was present. A combination of a reduction in glucose levels and the use of neuroleptic drugs resulted in the disappearance of the abnormal movements. In this report, we discuss the association between non-ketotic hyperglycaemia and ballism along with a review of the literature.

[Lobstein's disease presenting with seizures]. / Maladie de Lobstein révélée par une crise convulsive.

Osteogenesis imperfecta (OI) is a group of hereditary disorders most often due to an anomaly of collagen biosynthesis. Divers clinical manifestations are reported. Neurological manifestations are exceptional. A 40-year-old man with a history of multiple bone fractures was admitted for a generalized tonic-clonic seizure. There was no metabolic disorder, the patient however complained of bilateral shoulder pain. Standard radiography and shoulder MRI revealed bilateral humeral fractures. The electroencephalogram and the brain MRI showed no abnormalities. He was given valproate acid and eight months later was free of crises. Search for an etiological favored the diagnosis of Lobstein disease.

[Pseudotumoral presentation of multiple sclerosis]. / Présentation pseudotumorale d'une sclérose en plaques.

INTRODUCTION: Multiple sclerosis is one of the most common diseases of the central nervous system with a variety of clinical and radiological presentations. Several cases have been reported of demyelinating processes mimicking a tumour of the central nervous system. OBSERVATION: A 45-year-old man was admitted with acute right hemiparesis associated with intracranial hypertension syndrome. Initial CT scan and magnetic resonance imaging of the brain revealed a mass lesion in the left hemisphere. Combined, careful history taking, assessment of the clinical course and magnetic resonance imaging findings led to the final diagnosis of multiple sclerosis. COMMENTARY AND CONCLUSION: This case report illustrates the wide variety of multiple sclerosis presentation. Recognition of the demyelinating tumor like lesions is essential; the diagnosis of multiple sclerosis should be considered in young adults with similar presentations.

Peripheral blood markers of oxidative stress in Parkinson's disease.

Oxidative stress and generation of reactive oxygen species are believed to be implicated in Parkinson's disease (PD). Erythrocyte activity of superoxide dismutase (SOD) and catalase, the blood glutathione system, and plasma levels of thiobarbituric-acid-reactive substances (TBARS) were measured in 80 PD patients. These biochemical parameters were also measured in 29 age-matched controls. Patients with PD had significantly higher red blood corpuscle (RBC) activity of SOD. The mean RBC activity of catalase in PD patients did not differ significantly from those of controls. RBC catalase activity was significantly lower in advanced cases of PD compared to early cases. Oxidized glutathione was significantly higher in RBCs of PD patients, although there were no changes in total glutathione and reduced glutathione compared to controls. TBARS content was increased in patients with PD. Levodopa therapy, age and duration of illness did not significantly influence the measured parameters. Our study supports the previous hypothesis that oxidative stress is implicated in the pathogenesis of PD. Perspectives for treatment of PD in the future could include antioxidant therapy.

[Coeliac disease an spastic paraplegia]. / Maladie coeliaque et paraplégie spasmodique.

INTRODUCTION: Celiac disease (CD) is an immune-mediated disease triggered by the ingestion of gluten in genetically susceptible individuals. Neurological manifestations are rare and severe and must be sought systematically. CLINICAL CASES: Two non related patients each from a consanguineous marriage developed progressive spastic paraplegia 2 and 8 years respectively after onset of CD. The radiological and biological findings were normal except for the presence of abnormalities related to CD. CONCLUSION: The relationship between spastic paraplegia and CD is not well established. Autoimmune, metabolic and genetic mechanisms could be considered but the probability of a fortuitous association should not be ruled out.

[Cardiac involvement in Steinert's myotonic dystrophy]. / Anomalies cardiaques au cours de la dystrophie myotonique de Steinert.

INTRODUCTION: Cardiac involvement is described as one of the most frequent multisystemic manifestations of Steinert myotonic dystrophy (DM1). This study was performed to determine the frequency of cardiac abnormalities in Steinert myotonic dystrophy and to decipher the correlation between the severity of cardiac involvement and the degree of neurologic deficit. PATIENTS AND RESULTS: Thirty-four DM1 patients 23 men and 11 women, aged 13-61 years (mean 37.3+/-13.2 years) underwent neurological and cardiac evaluations. According to the MDRS scale, 32.5 percent were classified in the second stage, 23 percent in stage 3; 32.5 percent in stage 4 and 12 percent in stage 5. There was a positive correlation between neurological symptoms duration and the MRDS scale. Cardiac involvement was detected in 77.4 percent of patients. Electrocardiographic conduction abnormalities were the most frequent, represented by first-degree atrioventicular block in 64 percent of patients and bundle-branch block in 32 percent. From 5 patients having an invasive electrophysiology testing, subhisien block was observed in 3 patients. We respectively found alterations in systolic and diastolic left ventricular function in 22 percent and 30 percent of patients and a cardiac pacemaker was implanted in 3 patients. The frequency of cardiac manifestations was correlated to the degree of the neurological involvement assisted by MDRS scale, but it seam that the severity of cardiac abnormalities is not correlated to the degree of neurological deficit. CONCLUSION: We recommend that patients with DM1 undergo 24-h electrocardiogram monitoring and echocardiography at least yearly. Long-term prospective follow-up is required to determine the prognostic value of the observed abnormalities.