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Acta Neurológica Colombiana

versão impressa ISSN 0120-8748

Resumo

BELTRAN CARRASCAL, Elkin Jose et al. Typical and atypical presentation pantothenate kinase deficiency: reports of two cases and a review of current literature. Acta Neurol Colomb. [online]. 2014, vol.30, n.2, pp.124-127. ISSN 0120-8748.

Neurodegenerations associated with iron deposites are an important secondary cause extrapiramidalism. Their onsets are between 6 and 40 years, and are associated with behavioral changes and dementia. The pathophysiological bases are iron deposits at the basal ganglia. Of these diseases, the most frequent is Pantothenate kinase associated neurodegeneration (PKAN by its acronym), which constitutes over 50% of cases of the disease. Two forms of presentation have been described: typical (early onset) and atypical (late onset). We report two cases in the following: one typical and one atypical presentation, both diagnosed in San Ignacio Hospital in Bogotá, Colombia.

Palavras-chave : Pantothenate Kinase; PKAN; Neurodegeneration; Iron Deposits; Extrapiramidalism.

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