Déficit de pantotenato quinasa asociado a neurodegeneración. Reporte de un caso clásico y revisión de la literatura
Autor: | Heidy Johanna Gómez Naranjo, Eugenia Espinosa García, Ángela Paredes |
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Rok vydání: | 2015 |
Předmět: | |
Zdroj: | Acta Neurológica Colombiana. 31:318-324 |
ISSN: | 2422-4022 0120-8748 |
Popis: | 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. |
Databáze: | OpenAIRE |
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