Diffusion tensor imaging and tract-based spatial statistics analysis in Friedreich's ataxia patients.

INTRODUCTION: Friedreich's ataxia (FRDA) is the most common hereditary ataxia and thinning of the cervical spinal cord is a consistent observation in Magnetic resonance imaging (MRI), although neuropathological examination in FRDA reveals neuronal loss in gray matter (GM) nuclei and degeneration of white matter (WM) tracts in the spinal cord, brainstem and cerebellum. Using diffusion-tensor (DTI) imaging and tract-based spatial statistics (TBSS) we tested the hypothesis that WM damage in FRDA is more extensive than previously described and probably involves normal-appearing WM. METHODS: This transversal study included 21 genetically confirmed FRDA patients and seventeen healthy controls that underwent structural MRI of the brain on a 1.5 T scanner. We quantify the severity of ataxia using SARA scale. DTI was performed and diffusion data were analyzed using FMRIB's Diffusion Toolbox in FSL 4.1 in order to identify Fractional anisotropy (FA) decreases in specific brain regions and also the mean, radial and axial diffusivities (MD, RD, AD). RESULTS: The greatest decreases in FA were in the left superior cerebellar peduncle, left posterior thalamic radiation, major forceps, left inferior fronto-occipital fasciculus and corpus callosum and had a significance level of p < 0.01. No significant correlation between FA, AD, MD and RD values and the clinical findings, SARA scores and genetic expansion was found. CONCLUSION: DTI and TBSS techniques clearly demonstrate the extensive cerebral and cerebellar involvement in FRDA, partially explaining the clinical phenotype of the disease. Further studies are needed with larger samples to correlate clinical, genetic findings and ataxia scores.

Hematoma epidural espinal em paciente com lúpus eritematoso sistêmico / Spinal epidural hematoma in a patient with systemic lupus erythematosus

O hematoma epidural espinal é uma entidade rara, com incidência estimada em 0,1/100.000 habitantes. As causas mais frequentes na infância são coagulopatias e malformações vasculares. Manifesta-se por dor de forte intensidade em região vertebral. O diagnóstico é confirmado pela ressonância nuclear magnética e sua localização mais frequente é cervical e cervicotorácica. O trabalho relata o caso de uma paciente do sexo feminino portadora de lúpus eritematoso sistêmico que evoluiu com hematoma epidural. O projeto de pesquisa foi avaliado e aprovado pelo Comitê de Ética em Pesquisa em Seres Humanos do Hospital Pequeno Príncipe, Curitiba, Paraná. Por tratar-se de entidade rara, é pouco lembrado pelos médicos como possível diagnóstico diferencial. Neurologistas infantis e pediatras em geral devem estar atentos para a possibilidade desse diagnóstico em crianças com sinais neurológicos de comprometimento da medula espinal.

Epileptic seizures and EEG features in juvenile systemic lupus erythematosus.

INTRODUCTION: Juvenile systemic lupus erythematosus is more incident in female affecting different systems including the central nervous system. The aim of this study was to check the incidence of seizures and electroencephalographic features in these patients. METHOD: It was analyzed all patients with juvenile systemic lupus erythematosus referred to the Pequeno Príncipe Hospital in Curitiba, PR, Brazil, in the year of 2007. The patients were submitted to EEG and subdivided into two groups according to the presence or absence of epileptic seizures. Mann-Whitney statistical test was used. RESULTS: Forty-nine cases were included, there were 73.45% female, with an age between 3 and 28 years (micro=17.00 years; s=5.01 years). Seizures (13/26.50%) were the most frequent manifestation followed by headache (13/26.50%) and ischemic stroke (6/12.25%). Cerebral vasculites were the most frequent alteration in neuroimage. The abnormalities of EEG were characterized by asymmetry of the electric cerebral activity, diffuse disorganized background activity, focal epileptiform discharges in the right central-temporal region, generalized paroxysmal of 3 Hz spike-waves, and bursts of theta-delta slowness activity in the right parietal-occiptal region. The statistic analysis showed no significantly difference between age of onset of symptoms and the risk of seizures (p 0.675) as well as between time of the disease and the risk of seizures (p 0.436). CONCLUSION: Neurologic manifestations, in special epileptic seizures, are frequent in systemic lupus erythematosus. Age of onset of symptoms and the time of disease did not increase the risk of epileptic seizures in this disease.

Epileptic seizures and EEG features in juvenile systemic lupus erythematosus / Crises epilépticas e características do EEG em pacientes com lúpus eritematoso sistêmico juvenil

INTRODUCTION: Juvenile systemic lupus erythematosus is more incident in female affecting different systems including the central nervous system. The aim of this study was to check the incidence of seizures and electroencephalographic features in these patients. METHOD: It was analyzed all patients with juvenile systemic lupus erythematosus referred to the Pequeno Príncipe Hospital in Curitiba, PR, Brazil, in the year of 2007. The patients were submitted to EEG and subdivided into two groups according to the presence or absence of epileptic seizures. Mann-Whitney statistical test was used. RESULTS: Forty-nine cases were included, there were 73.45 percent female, with an age between 3 and 28 years (µ=17.00 years; s=5.01 years). Seizures (13/26.50 percent) were the most frequent manifestation followed by headache (13/26.50 percent) and ischemic stroke (6/12.25 percent). Cerebral vasculites were the most frequent alteration in neuroimage. The abnormalities of EEG were characterized by asymmetry of the electric cerebral activity, diffuse disorganized background activity, focal epileptiform discharges in the right central-temporal region, generalized paroxysmal of 3 Hz spike-waves, and bursts of theta-delta slowness activity in the right parietal-occiptal region. The statistic analysis showed no significantly difference between age of onset of symptoms and the risk of seizures (p 0.675) as well as between time of the disease and the risk of seizures (p 0.436). CONCLUSION: Neurologic manifestations, in special epileptic seizures, are frequent in systemic lupus erythematosus. Age of onset of symptoms and the time of disease did not increase the risk of epileptic seizures in this disease.

INTRODUÇÃO: Lupus eritematoso sistêmico juvenil é doença mais freqüente no sexo feminino afetando múltiplos sistemas, incluindo o sistema nervoso central. O objetivo deste estudo foi avaliar a incidência de crises epilépticas e de alterações eletrencefalográficas nestes pacientes. MÉTODO: Foram avaliados todos os pacientes com lupus eritematoso sistêmico juvenil encaminhados para o Hospital Pequeno Príncipe em Curitiba, PR, Brasil, no ano de 2007. Os pacientes foram submetidos a EEG e subdivididos em 2 grupos conforme a presença ou não de crises epilépticas. A análise foi realizada através do teste estatístico de Mann-Whitney. RESULTADOS: 49 casos foram incluídos, sendo 73,45 por cento do sexo feminino, com idade variando entre 3 e 28 anos (µ=17,00 anos; s=5,01 anos). Crises epilépticas (13/26,50 por cento) foram a manifestação neurológica mais freqüente, seguidas de cefaléia (13/26,50 por cento) e acidente vascular cerebral isquêmico (6/12,25 por cento). Vasculite cerebral foi a alteração de imagem mais freqüente. As alterações no EEG foram caracterizadas por assimetria da atividade elétrica cerebral, desorganização difusa da atividade de base, descargas epileptiformes na região centro-temporal direita, paroxismos generalizados de espícula-onda à 3 Hz e surtos de onda lenta na faixa delta-teta na região parieto-occipital direita. A análise estatística não demonstrou diferença significativa entre a idade de início dos sintomas e risco de crise epiléptica (p 0,675) e nem entre tempo de evolução da doença e risco de crise epiléptica (p 0,436). CONCLUSÃO: Manifestações neurológicas, particularmente crises epilépticas, são freqüentes no lupus eritematoso sistêmico juvenil. A idade de início dos sintomas e o tempo de duração da doença não aumentam o risco de crises epilépticas nesta doença.