Neurodegeneration with brain iron accumulation: A case report

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron...

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Detalles Bibliográficos
Autores principales: Nassif, Daniel, Pereira, João Santos, Spitz, Mariana, Capitão, Cláudia, Faria, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação de Neurologia Cognitiva e do Comportamento 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642409/
https://www.ncbi.nlm.nih.gov/pubmed/29213449
http://dx.doi.org/10.1590/S1980-5764-2016DN1002014
Descripción
Sumario:Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

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