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We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.

Neurofibromatosis type 1 (NF1) can virtually affect any organ, presenting most frequently with "cafe au lait" spots and neurofibromas. Vasculopathy is a known complication of NF1, but cerebrovascular disease is rare. We report the case of a 51-year-old man admitted to the hospital with a history of stroke four months before admission. On physical examination, he presented various "cafe au lait" spots and cutaneous neurofibromas. Neurologic examination demonstrated right-sided facial paralysis, right-sided hemiplegia, and aphasia. Computed tomography scan of head showed hypodense areas in the basal ganglia and centrum semiovale. Radiographs of cranium and cervical spine showed basilar impression. Angiography revealed complete occlusion of both vertebral and left internal carotid arteries, and partial stenosis of the right internal carotid artery. A large network of collateral vessels was present (moyamoya syndrome). It is an uncommon case of occlusive cerebrovascular disease associated with NF1, since most cases described in the literature are in young people, and tend to spare the posterior cerebral circulation. Basilar impression associated with this case may be considered a pure coincidence, but rare cases of basilar impression and NF1 have been described.

A ossificação do ligamento longitudinal posterior (OLLP) é causa incomum de mielopatia compressiva na população caucasiana. É relatado o caso de um paciente do sexo masculino com um quadro de paraparesia espástica, cuja investigação radiológica mostrou OLLP. O raio-X de coluna cervical mostrou imagem laminar, vertical, com densidade óssea, posterior aos corpos vertebrais, que se estendia de C2 a T1. A tomografia computadorizada (TC) e a mielotomografia mostravam OLLP causando compressão medular ântero-posterior no segmento descrito. Na ressonância magnética, observou-se área de hiperintensidade em T2 no segmento C7-T1, compatível com mielomalácia. O paciente foi submetido a laminoplastia tipo "open-door", com melhora do quadro parético dos membros inferiores. A OLLP deve entrar no diagnóstico diferencial das mielopatias cervicais, sendo facilmente diagnosticada através de radiografias e TC da coluna cervical. São revisados os aspectos clínicos e radiológicos e o tratamento da OLLP.Ossification of the posterior longitudinal ligament (OPLL) is an uncommon cause of compressive myelopathy in the Caucasian population. A case of spastic paraparesis in a Caucasian man whose radiological investigation showed OPLL is presented. The radiographs of the cervical spine showed a strip of bony density posterior to the vertebral bodies, extending from C2 to T1. Computerized tomography (CT) and CT myelography showed OPLL at the same level. Magnetic resonance showed an area of increased signal on T2-weighted sequences at C7-T1 level suggestive of myelomalacia. The patient underwent an open-door laminoplasty (C2 to C7) with improvement of the paraparesis. OPLL should be included in the differential diagnosis of cervical myelopathy. It can be easily detected by plain radiographs and CT of the cervical spine. A review of the clinical and radiological features and the treatment of OPLL is presented.

Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.

Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.A paraplegia espástica hereditária autossômica recessiva (PEH-AR) associada com hipoplasia de corpo caloso foi inicialmente descrita no Japão. Estudos de ligação genética mostram que a maioria das famílias estão relacionadas ao cromossomo 15q13-15. Relatamos dois pacientes de famílias brasileiras, não relacionadas, com distúrbio de marcha com início na segunda década de vida, paraparesia espástica e comprometimento das funções cognitivas. Um dos pacientes apresentava ataxia cerebelar. A ressonância magnética de encéfalo de ambos os pacientes mostrou hipoplasia de corpo caloso. PEH-AR associada com hipoplasia de corpo caloso é uma condição rara, descrita principalmente em pacientes do Japão. Encontramos apenas 4 famílias caucasianas com PEH-AR e hipoplasia de corpo caloso. Mais estudos com famílias caucasianas são necessários para delinear o perfil genético dessa síndrome em países ocidentais.

Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities. Previous studies of the paraspinal muscles of AS patients showed muscle fiber atrophy, and core fibers. On the other hand, central core disease (CCD) is a genetic condition that primarily involves the skeletal muscles, but can present articular deformities secondary to muscular weakness. We report the case of a 45-year-old man with clinical and radiological diagnosis of AS and proximal muscular weakness in the lower limbs. Needle electromyography showed myopathic features and nerve conduction study was normal. Muscle biopsy disclosed almost complete predominance of type-1 fibers, and fibers with central cores. This is the first report of AS and CCD. Whether central core myopathy is coincidental or a new association with AS is discussed.

Realizamos análise epidemiológica de 164 pacientes com AVC, cujo primeiro episódio ocorreu entre 15 e 49 anos de idade através de um estudo retrospectivo de pacientes ambulatoriais. O principal tipo de apresentação foi AVC isquêmico (AVCI) em 141 pacientes, ocorrendo AVC hemorrágico (AVCH) em16 casos e 7 pacientes com trombose venosa. A presença de fatores de risco aterotrombóticos foi prevalente, em 48,22% dos pacientes com AVCI sendo que a hipertensão arterial sistêmica (HAS), nos casos de AVCH, foi a etiologia mais frequente. Em 32% dos casos não se pode determinar a sua causa. Embora a população jovem possua determinantes diferentes e geralmente deva ter uma investigação etiológica mais abrangente, no grupo estudado foram prevalentes os fatores de risco conhecidos e potencialmente controláveis, sugerindo que campanhas de prevenção e detecção precoce devam ser incentivados.

We report on the clinical course and histopathologic muscle alterations of five patients diagnosed with neurosarcoidosis, who underwent biopsy due to their muscle manifestations. The five patients were females and only one was less than 40 years of age. Proximal muscle weakness was presented by all and only two patients complained of myalgia. Only normal values of serum muscle enzymes were detected. Electromyography revealed diverse findings such as normal, myopathic and neuropathic patterns. Granuloma was not present in one muscle biopsy. Two patients thoroughly recovered by taking only prednisone and one patient required a methotrexate addition for 3 months before becoming asymptomatic. The other two patients received azathioprine, one due to steroid side effects but without a satisfactory evolution, and the other to strengthen the prednisone régime, with excellent results.

Uma proporção variável de pacientes com distrofia muscular congênita (DMC) da forma clássica ou ocidental apresenta deficiência da cadeia α2 da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padrão de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD) e sete pacientes eram merosina-positiva (MP). Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulação, enquanto quatro dos sete pacientes MP atingiram deambulação sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos não foi estatisticamente significativa. Estudo da condução nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuição da velocidade de condução nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, não foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciação entre os casos MP e MD serve para fins de prognóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que não existe relação entre a ausência de merosina e as alterações histológicas encontradas na biópsia muscular.Merosin α2 chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD). A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patient: evaluated achieved walking. In contrast, 4 of 7 merosin-positive patients achieved independent ambulation. Creatine kinase levels were higher in merosin-deficient patients, but this difference was not statistically significant. Motor nerve conduction study was carried out on 12 children. All 4 merosin-positive patients had normal exams whereas 2 out 8 merosin-deficient patients presented decreased motor nerve conduction velocity. Among 69 histopathological features studied, we did not find any significant difference between merosin-deficient and merosin-positive patients. These results suggest that merosin status evaluation is important in the determination of the prognostic, since merosin-positive patients can achieve independent walking. This study also suggests that there is no relation between absence of merosin and histopathological features.