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.

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.

[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.

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.

[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.

[Hematologic abnormalities in infantile visceral leishmaniasis]. / Anomalies hématologiques au cours de la leishmaniose viscérale infantile.

The clinical and biological manifestations of visceral leishmaniasis are often confusing, most particularly because it can mimic and lead to a variety of hematological disorders. The aim of this study was to investigate the hematologic abnormalities observed in infantile visceral leishmaniasis from January 2000 and December 2013. The study included 35 children with a mean age of 3.5 years. Clinical manifestations were dominated by splenomegaly, fever, and paleness, defining the classic triad in 16% of our patients. Anemia was present in all patients. Leukopenia was found in 51% of the cases. Thrombocytopenia was observed in 48% of our patients and 36% had pancytopenia. All cases were confirmed by the presence of Leishman bodies (amastigotes) in the bone marrow smears. Quantitative and qualitative megakaryocyte abnormalities were found. Similarly, dysgranulopoiesis was observed in 31% of the cases, eosinophilia was present in 6%, erythroid hypoplasia in 3%, and erythroid hyperplasia in 34%. Different features of dyserythropoiesis were revealed in 71% of the patients with images of hemophagocytosis in 6% and multiple dysplasias in 9%. The knowledge of these hematological abnormalities associated with infantile visceral leishmaniasis can assist us in searching for Leishman bodies in the bone marrow smears to provide a diagnosis more quickly without necessarily resorting to more sophisticated tests.

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.