Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

Neuronal ceroid-lipofuscinosis (NCL) is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI). Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease), in which intraneuronal accumulation of gangliosides (sphingolipids) is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky) type and a brother and a sister of the juvenile (Spielmeyer-Sjögren) type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

Cromomicose cerebral: registro de um caso

A case of brain abscess and meningitis due to pigmented fungi is reported. The patient was a 59-year-old white male, who had enjoyed excellent health until October 1977, when he developed headache, later accompanied by paresthesias and weakness in the left-sided extremities. These symptoms worsened progressively and in November of that year he had to quit his job. From February 1978 on he became inactive and anorexic. Intense continuous headache was associated with frequent episodes of vomiting. He gradually became tor-porous, and according to his relatives, suffered from visual and possibly auditory deficiency. On examination, he was malnourished and dehydrated, with decubitus ulcers. Temperature was 38,5°C. A left-sided spastic hemiplegia and prominent meningorradicular signs were noted. The CSF was examined six times between May 17th and June 1st and showed variable hypercytosis (143 to 4,437 leucocytes/ cu mm) with predominance of neutrophils (up tp 95%), low glucose and high protein concentrations. No microorganisms were identified. Electroencephalographic study disclosed a low background activity especially in left temporal areas. Despite supportive care and antibiotic therapy he lapsed into coma. Carotid angiography was normal on June 1st. He remained in deep coma until his death on June 6th, 1978. Necropsy was limited to the brain, which weighed 1,550 g after fixation and showed diffuse intense edema and hyperemia. On coronal sectioning an encapsulated abscess was found in the right basal ganglia, which also involved the internal capsule, and measured 1.5 cm in diameter. Microscopical examination disclosed large numbers of brownish fungi, appearing both as oval yeasts and as septate hyphae in the thick fibrous capsule and in the necrotic content of the abscess. The same organisms were demonstrated in moderate numbers in the leptomeninges of the medulla oblongata and , less frequently, of the hippo-campal region and cerebellum.

Desenvolvimento de equações generalizadas para estimativa da coordenação motora em crianças e adolescentes portadores de deficiencia mental

Universidade Estadual de Campinas . Faculdade de Educação Física

Esgrima em cadeira de rodas : pedagogia de ensino a partir das dimensões e contexto da modalidade

Universidade Estadual de Campinas . Faculdade de Educação Física

Medalhistas de ouro nas Paraolimpiadas de Atenas 2004 : reflexões de suas trajetorias no desporto adaptado

Universidade Estadual de Campinas . Faculdade de Educação Física

Analise do movimento de arremessar em diferentes tarefas realizadas por crianças portadoras de Sindrome de Down

Universidade Estadual de Campinas. Faculdade de Educação Física

Barreiras socio-culturais e lazer das pessoas portadoras de deficiencia fisica : um estudo do grupo Fraternidade Cristã de Doença e Deficiencia de Campinas, SP

Universidade Estadual de Campinas. Faculdade de Educação Física

Anosognosia : imagem corporal na hemiplegia

Universidade Estadual de Campinas . Faculdade de Educação Física

Indicadores de saude em mulheres acima de 50 anos de idade participantes de um programa de atividades fisicas no complexo da Mare-RJ

Univesidade Estadual de Campinas. Faculdade de Educação Física

A ação do professor de ensino superior na educação fisica adaptada : construção mediada pelos aspectos dos contextos historicos, politicos e sociais

Universidade Estadual de Campinas. Faculdade de Educação Física

As artes marciais chinesas para pessoas com deficiência : contextos, dilemas e possibilidades = Chinese martial arts for people with disabilities : contexts, dilemmas and possibilities

Universidade Estadual de Campinas . Faculdade de Educação Física

Avaliação do desempenho anaeróbio de atletas de rugby em cadeira de rodas = : Anaerobic performance evaluation of wheelchair rugby athletes

Universidade Estadual de Campinas . Faculdade de Educação Física

Proposta de ensino de polybat para pessoas com paralisia cerebral

Universidade Estadual de Campinas . Faculdade de Educação Física

Dança em cadeira de rodas : os sentidos da dança como linguagem não-verbal

Universidade Estadual de Campinas. Faculdade de Educação Física

Aspectos de formação e transição em programas para adolescentes e adultos portadores de deficiencia mental em instituições especializadas

Universidade Estadual de Campinas. Faculdade de Educação Física