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[Neurological aspects of ceroid-lipofuscinoses]. / Aspectos neurológicos de la ceroidolipofuscinosis.
Peña, J A; Cardozo, J; González, S; Luna, D.
Afiliação
  • Peña JA; Servicio de Neurología Pediátrica, Hospital Universitario de Maracaibo, Venezuela. jokar1@telcel.net.ve
Rev Neurol ; 31(3): 283-7, 2000.
Article em Es | MEDLINE | ID: mdl-10996929
OBJECTIVE: We discuss the historical, epidemiological, clinical, complementary tests and neuropathological details of ceroid-lipofuscinoses in children. DEVELOPMENT: Initially, we review the basic concepts and historical details of the disorders, and the frequency and distribution of the different clinical forms. Subsequently, we review the subtypes and variants most commonly found in children, together with the elements necessary for diagnosis. Finally we analyze the neuropathological studies and their clinical correlation. CONCLUSIONS: The clinical diagnosis of ceroid-lipofuscinoses should be based on a clinical history showing disorders of vision, convulsions and regression of psychomotor functions. Neuroimaging findings, neurophysiological changes and ultrastructural studies confirm the diagnosis.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Child, preschool / Humans / Infant Idioma: Es Revista: Rev Neurol Ano de publicação: 2000 Tipo de documento: Article País de afiliação: Venezuela País de publicação: Espanha
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Lipofuscinoses Ceroides Neuronais Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Child / Child, preschool / Humans / Infant Idioma: Es Revista: Rev Neurol Ano de publicação: 2000 Tipo de documento: Article País de afiliação: Venezuela País de publicação: Espanha