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Acta Neurológica Colombiana
versão impressa ISSN 0120-8748
Resumo
GOMEZ NARANJO, Heidy; ESPINOSA GARCIA, Eugenia e PAREDES, Ángela. Pantothenate kinase-associated neurodegeneration: A classical case report and literature review. Acta Neurol Colomb. [online]. 2015, vol.31, n.3, pp.318-324. ISSN 0120-8748.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative disease characterized by progressive extrapyramidal dysfunction and iron accumulation in the basal ganglia. The classic sign in neuroimaging of "eye of the tiger" is seen on T2-weighted magnetic resonance imaging scan. We present a classic case of the disease in a child who starts with motor symptoms at 5 years old and was studied at the Instituto de Ortopedia Infantil Roosevelt, with typical neuroimaging and confirmation of the mutation by molecular study.
Palavras-chave : Pantothenate kinase-associated neurodegeneration; neurodegeneration; dystonia; spasticity; neuroimaging with "eye of the tiger" (MeSH).