Déficit de pantotenato quinasa asociado a neurodegeneración. Reporte de un caso clásico y revisión de la literatura

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.