RESUMO
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.
Assuntos
Doenças do Sistema Nervoso Central/patologia , Doenças do Sistema Nervoso Central/psicologia , Sarcoidose/patologia , Sarcoidose/psicologia , Corticosteroides/uso terapêutico , Adulto , Idade de Início , Encéfalo/patologia , Líquido da Lavagem Broncoalveolar/citologia , Doenças do Sistema Nervoso Central/complicações , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/patologia , Estudos Retrospectivos , Sarcoidose/complicações , Resultado do TratamentoRESUMO
AIM OF THE STUDY: Platelet-activating factor interacts with its specific receptor and mediates leucocytes transmigration into central nervous system and expression of HLA molecules on antigens-presenting cells. These features are the major characteristics of multiple sclerosis pathology. In the present study, we investigated the role of platelet-activating factor receptor A224 mutation in the susceptibility to relapsing-remitting form of MS in a Tunisian population. PATIENTS AND METHODS: Forty-seven multiple sclerosis patients and 72 healthy controls were genotyped for platelet-activating factor receptor A224D mutation using polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: We used three models of inheritance: the codominant, dominant and recessive models. Our results showed a predisposing effect of platelet-activating factor receptor 224D variant on susceptibility to relapsing-remitting multiple sclerosis (30% vs 48.1%, OR [IC 95%]=2.04 [1.04-3.99], P=0.023). Our results were also consistent with a dominant model of inheritance when comparing mild genotype (AA) with carriers of one or two copies of mutant allele (AD+DD) (55.7% vs 31.9%, OR [IC 95%]=2.92 [1.34-6.81], P=0.006). No effect of this mutation was shown when considering the age at disease onset, disease severity or gender. CONCLUSION: This first study reports an implication of platelet-activating factor receptor A224D mutation in the susceptibility to relapsing-remitting multiple sclerosis in Tunisian population. Further studies will be necessary to confirm the dominant role of PAFR A224D mutation and to elucidate the effect of this mutation on platelet-activating factor/platelet-activating factor receptor pathways.
Assuntos
Esclerose Múltipla Recidivante-Remitente/genética , Mutação de Sentido Incorreto , Glicoproteínas da Membrana de Plaquetas/genética , Receptores Acoplados a Proteínas G/genética , Adulto , Alanina/genética , Substituição de Aminoácidos/genética , Ácido Aspártico/genética , Progressão da Doença , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genética Populacional , Humanos , Masculino , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Esclerose Múltipla Recidivante-Remitente/epidemiologia , Mutação de Sentido Incorreto/fisiologia , Índice de Gravidade de Doença , Tunísia/epidemiologia , Adulto JovemRESUMO
PURPOSE: The aim of the present study is to provide a clinical and etiological analysis of cerebral venous thrombosis (CVT) in the Tunisian population. METHODS: This is a prospective monocentric study including 26 patients referred to the Neurology Department of the Military Hospital of Tunis between January 2005 and January 2008. The diagnosis of CVT was confirmed in all patients by magnetic resonance imaging (MRI) and angiography. The clinical and biological risk factors of cerebral venous thrombosis were analyzed. The average follow-up was 18 months (range six to 30). The outcome was assessed clinically with the modified Rankin scale and with MRI. RESULTS: Mean age was 38.26 years, predominantly females (sex-ratio 4.2). The clinical onset was acute in 88.46% of the cases. Headache was the most common inaugural sign (84.6%). Lateral and superior longitudinal sinuses were the most commonly involved with equal frequency (61.53%). Parenchymal lesions were frequently noted (77%), especially hemorrhagic infarcts (46.15%). The causes of CVT were variable and usually combined (85%). Specifically, thrombophilia and obstetric-gynecological causes were predominant with a prevalence of 61.5 and 42.3%, respectively. Septic causes (38.46%) are also frequent, mainly oral infections (27%). Outcome was favorable in 77% of patients given heparin therapy, followed by oral anticoagulants and antibiotics as needed. CONCLUSION: Our Tunisian population presented distinct clinical features compared with previous studies, including a high frequency of thrombophilia and gyneco-obstetrical disorders as well as infectious causes.
Assuntos
Trombose Intracraniana/etiologia , Trombose Venosa/etiologia , Adolescente , Adulto , Idoso , Anticoagulantes/uso terapêutico , Angiografia Cerebral , Infarto Cerebral/etiologia , Feminino , Humanos , Trombose Intracraniana/tratamento farmacológico , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Trombofilia/complicações , Resultado do Tratamento , Tunísia , Trombose Venosa/tratamento farmacológico , Adulto JovemRESUMO
INTRODUCTION: Cerebral aspergillosis is a severe disease most commonly suspected in immunocompromised patients. CASE REPORT: We report herein three cases of cerebral aspergillosis in immunocompetent adults. Sinus involvement was noted in two cases, but there was no extracerebral involvement in the third case. Mycology samples provided the diagnosis in two cases. In the third case, cerebral imaging visualized a tumor; the patient underwent surgery and the pathology exam of the surgical specimen established the diagnosis. All patients were given antifungal treatment and achieved a good outcome. CONCLUSION: Cerebral aspergillosis is highly uncommon in immunocompetent patients. In addition to immunodepression, the notion of pulmonary or ENT involvement may be suggestive. In the brain, aspergillosis mainly involves the basal nuclei and the thalamus.
Assuntos
Encefalopatias/microbiologia , Imunocompetência/imunologia , Neuroaspergilose/imunologia , Sinusite/imunologia , Adulto , Idoso , Encéfalo/patologia , Encefalopatias/imunologia , Encefalopatias/patologia , Feminino , Gadolínio , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neuroaspergilose/patologia , Lobo Parietal/patologia , Sinusite/patologiaRESUMO
INTRODUCTION: Despite the resurgence of tuberculosis, partly due to HIV infection, central nervous system involvement remains rare, accounting for only 2 to 5% of all tuberculosis forms. PATIENTS ET METHOD: We report six cases of brain tuberculomas occurring in patients free of HIV infection and hospitalized between 2001 and 2006 in the internal medicine department of a Tunisian military hospital (Tunis). RESULTS: Four patients had an underlying defect. Headache, fever, consciousness disorders, deficit disorder or cerebellar syndrome are the main symptoms. Tuberculomas were multiple and disseminated in four cases and localized in the brain stem in two cases. Positive diagnosis could be established in two cases on the basis of the pathology results of a brain biopsy or detection of Mycobacterium tuberculosis in the cerebrospinal fluid; the diagnosis was presumptive in the other cases. Five patients recovered under antituberculosis treatment maintained on average 13 months (11 to 16 months). Steroid treatment was associated in five patients and tapered off for four to six weeks. One 78-year-old diabetic patient died in a context of cachexia with multiple organ failure.
Assuntos
Encefalopatias/diagnóstico , Tuberculoma/diagnóstico , Adulto , Idoso , Antituberculosos/uso terapêutico , Encefalopatias/tratamento farmacológico , Encefalopatias/mortalidade , Encefalopatias/patologia , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Tuberculoma/tratamento farmacológico , Tuberculoma/mortalidade , Tuberculoma/patologiaRESUMO
Melkersson-Rosenthal (MRS) syndrome is a rare disorder defined as a triad of recurrent peripheral facial palsy, orofacial edema, and fissured tongue. The etiology of this disease is still unclear. Genetic origin has been postulated. Several theories have been advanced to provide further evidence for a hereditary basis of MRS. We describe a case of 14-year-old girl presented with the classic triad symptoms of MRS. The diagnosis of MRS was made on the basis of history, clinical, histopathological examinations and exclusion of differential diagnosis. The family history showed that some members presented similar symptoms. A chromosome analysis was performed. This observation with familial occurrence of MRS may support the genetic origin theory of MRS. However; present available studies do not provide sufficient evidence to confirm a genetic origin.
Assuntos
Família , Síndrome de Melkersson-Rosenthal/diagnóstico , Adolescente , Feminino , Glucocorticoides/uso terapêutico , Humanos , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Síndrome de Melkersson-Rosenthal/genética , Metilprednisolona/uso terapêutico , Linhagem , TunísiaRESUMO
BACKGROUND: cerebral venous thrombophlebitis (CVT) is a rare but serious pathology. The pregnancy and especially the postpartum constitute supporting circumstances occured of the CVT. AIM: the aim of our study is to remember the symptomatology of CVT, the importance of the IRM and the angio IRM in the diagnosis of CVT, and its treatment. OBSERVATIONS: We present a retrospective study relating to 7 cases of CVT during gravidopuerperality over 7 years (1996 to 2002). The average age of our patients is 32.1 years. The CVT occured during the first trimester of the pregnancy in one case and in the postpartum in 6 cases. The symptomatology was dominated by cephalgia and the signs of intracranian hypertension. Convulsions occured in 3 cases. The diagnosis of CVT was confirmed by IRM coupled with the Angio-IRM in all cases. The treatment by heparinotherapy was instaured immediately and relayed by the Anti-Vit K as the evolution was favorable in all cases. CONCLUSION: cerebral venous thrombophebitis (CVT) is a serious pathology (especially in pregnancy and post partum). The diagnosis is performed by the magnetic resonance imaging (IRM) and the early introduction of the heparinotherapy.
Assuntos
Trombose Intracraniana/diagnóstico , Complicações Hematológicas na Gravidez/diagnóstico , Trombose Venosa/diagnóstico , Adulto , Feminino , Humanos , Gravidez , Estudos RetrospectivosRESUMO
INTRODUCTION: Opsoclonus-myoclonus-ataxia (OMS) is a rare clinical syndrome, of paraneoplastic infectious, post-infectious, post-vaccinal or idiopathic origin. CASE REPORT: We report a 24-year-old young man who presented with gait disorder preceded by a febrile rash and retroauricular lymph nodes. Three days before admission, he had headache, vertigo, nausea and vomiting followed by gait unsteadiness and movement disorders of limbs and eyes. On examination, he had OMS syndrome. Brain MRI, total body scan, MIBG scintigraphy, tumor markers and onconeural antibodies were normal. Cerebro-spinal fluid (CSF) analysis showed lymphocytic meningitis. Positive serum and CSF immunoglobulin M antibody against rubella virus was demonstrated. He received acyclovir with full recovery within two weeks. We discuss the peculiarities of this association with a literature review. CONCLUSION: This observation enlarges the spectrum of neurological manifestations of rubella as well as that of OMS etiologies.
Assuntos
Meningoencefalite/virologia , Síndrome de Opsoclonia-Mioclonia/virologia , Rubéola (Sarampo Alemão)/virologia , Aciclovir/uso terapêutico , Anticorpos Antivirais/sangue , Anticorpos Antivirais/líquido cefalorraquidiano , Antivirais/uso terapêutico , Humanos , Imunoglobulina M/sangue , Imunoglobulina M/líquido cefalorraquidiano , Masculino , Meningoencefalite/diagnóstico , Meningoencefalite/tratamento farmacológico , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Rubéola (Sarampo Alemão)/diagnóstico , Rubéola (Sarampo Alemão)/tratamento farmacológico , Vírus da Rubéola/imunologia , Adulto JovemRESUMO
OBJECTIVE: To report the clinical findings and the genetic linkage mapping of an autosomal recessive cerebellar ataxia associated to peripheral neuropathy, showing an early onset cerebellar ataxia with retained tendon reflexes (EOCA) phenotype. BACKGROUND: EOCA is a clinical syndrome delimited by Harding distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes. Molecular genetic study of patients with EOCA has demonstrated genetic heterogeneity. A form of autosomal recessive spastic ataxia has been described in Charlevoix Saguenay area in Quebec (ARSACS); the gene responsible has been mapped to chromosome 13q. METHODS: Genetic linkage analysis was performed on 18 members of a large family including 8 of 9 members with EOCA. After exclusion of FA and ataxia with vitamin E deficiency loci as well as loci of autosomal dominant cerebellar ataxias, we performed a linkage analysis to markers of 13q11-12 region. RESULTS: The 9 affected members of this family showed stereotyped clinical features with cerebellar ataxia, pyramidal syndrome, and a variable degree of axonal peripheral neuropathy. Linkage was detected between the disease locus and the microsatellite marker D13S232. Surrounding markers to D13S232 confirmed the linkage and showed the homozygosity of the affected members. CONCLUSION: The family reported here showed the same locus as autosomal recessive spastic ataxia Charlevoix Saguenay disease.
Assuntos
Cromossomos Humanos Par 13/genética , Ligação Genética/genética , Degenerações Espinocerebelares/genética , Adolescente , Adulto , Idade de Início , Biópsia , Potenciais Somatossensoriais Evocados/genética , Feminino , Genes Recessivos/genética , Marcadores Genéticos , Humanos , Escore Lod , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/inervação , Músculo Esquelético/patologia , Condução Nervosa/genética , Linhagem , Nervo Fibular/patologia , Degenerações Espinocerebelares/epidemiologia , Tunísia/epidemiologiaAssuntos
Encefalite/etiologia , Toxocara canis , Toxocaríase , Albendazol/administração & dosagem , Albendazol/uso terapêutico , Animais , Anti-Helmínticos/administração & dosagem , Anti-Helmínticos/uso terapêutico , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/uso terapêutico , Quimioterapia Combinada , Encefalite/diagnóstico , Encefalite/tratamento farmacológico , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prednisona/administração & dosagem , Prednisona/uso terapêutico , Fatores de Tempo , Toxocaríase/diagnóstico , Toxocaríase/tratamento farmacológico , Resultado do TratamentoRESUMO
Chemokines and their receptors are known to mediate inflammation and tissue damage in autoimmune disorders such as multiple sclerosis (MS). Multiple sclerosis is an inflammatory disease of the central nervous system, characterized by myelin damage and neurological complications. Monocyte chemoattractant protein-1 (MCP-1) interacts with the C-C chemokine receptor 2 (CCR2) and plays a role in the migration of leukocytes into the central nervous system, thus contributing to the T cell-mediated pathogenesis of MS. Genomic DNA obtained from 58 MS patients and 72 healthy controls was tested for the MCP-1 -2518 A>G and CCR2 Val64Ile polymorphisms using polymerase chain reaction-restriction fragment length polymorphism analysis. Neither the MCP-1 -2518G (p=0.43) nor the CCR2 64Ile (p=0.52) variant contributed to the risk of MS in Tunisians.
Assuntos
Quimiocina CCL2/genética , Isoleucina/genética , Esclerose Múltipla/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores CCR2/genética , Valina/genética , Adolescente , Adulto , Criança , Intervalos de Confiança , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/líquido cefalorraquidiano , Razão de Chances , Tunísia/epidemiologia , Adulto JovemRESUMO
BACKGROUND: We recently showed that the severity of MRI signal abnormalities increases with age in CADASIL, an arteriopathy due to mutations of notch 3 gene on chromosome 19. Previous results also suggest that the various hemispheric subcortical areas have a different vulnerability to ischemia in this disease. The distribution of the lesions at the brain stem level has not yet been reported. CASE DESCRIPTIONS: We reviewed the MRIs of 68 affected patients having signal abnormalities in the hemispheric white matter to assess the distribution and clinical consequences of brain stem signal abnormalities in CADASIL. We found hypersignals on T2-weighted images in the brain stem in 45% of the subjects. The pons was more frequently involved (100%) than the mesencephalon (69%) and the medulla (35%). Hyposignals on T1-weighted images, at the brain stem level, were observed only in two thirds of these subjects. The lack of signal abnormalities reaching the brain stem surface and the absence of cerebellar lesions were noteworthy. CONCLUSIONS: Brain stem signal abnormalities observed in CADASIL are found in regions irrigated only by perforating arteries. These results support parallel observations made for CADASIL-associated signal abnormalities in the cerebral hemispheres and emphasize the importance of the angioarchitecture of the cerebral vasculature to explain why a condition characterized by a systemic vessel wall pathology is manifested only as a brain disease.