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
Rok vydání:	2015
Předmět:	Pathology medicine.medical_specialty Magnetic Resonance Imaging Scan Neuroimaging General Engineering medicine Extrapyramidal dysfunction Psychology Motor symptoms Neuroscience
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
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::996987499019b09a3f676772619b4ef3 https://doi.org/10.22379/2422402247 Zobrazit plný text záznamu