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Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil

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Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil

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Título Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil
Autor Puga, Ana Cristina Scheidt
Jardim, Laura Bannach
Souza, Carolina Fischinger Moura de
Abstract The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and juvenile (JNCL). Several variant subtypes have been described. Genetic and biochemical analysis are helping to better understand, diagnose and classify these disorders. We report on clinical, neurophysiological, neuroradiological, and morphological data from 17 patients with different forms (infantile, late infantile, and juvenile ) of neuronal ceroid lipofuscinoses (NCL) evaluated at Hospital de Clínicas de Porto Alegre, Southern Brazil, during 6 years (1992-1997). Seven cases were infantile; 5 were late infantile; and 5 were juvenile NCL. Gender ratio was male:female, 11:6. Age at presentation varied from 2-24 months for INCL; 2,5 to 5 years for LINCL ; and 4-10 years for the JNCL cases. Seizures (6 patients) and psychomotor retardation (1 patient) were the initial symptoms in the INCL group. All the patients in the group of LINCL had the usual findings. JNCL patients manifested different initial symptoms, although tending to follow a similar clinical picture within familial cases. Epidemiological data on the prevalence of NCLs in Brazil are not available, we expect this series of cases to contribute to further research in our population.
Contido em Arquivos de neuro-psiquiatria. São Paulo. Vol. 58, n. 3A (set. 2000), p. 597-606
Assunto Erros inatos do metabolismo
Lipofuscinoses ceróides nueronais
[en] Batten-Spielmeyer-Vogt disease
[en] Haltia-Santavuori disease
[en] Jansky-Bielschowsky disease
[en] Lysosomal storage disease
[en] Neuronal ceroid lipofuscinoses
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/21880
Arquivos Descrição Formato
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