Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI

Neurodegeneration with brain iron accumulation (NBIA) is a subtype of inherited metabolic disorders. It includes pantothenate kinase-associated neurodegeneration (PKAN), which is a rare autosomal recessive disorder caused by the mutation of pantothenate kinase 2-gene (PANK2). It affects the deep gre...

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Detalles Bibliográficos
Autores principales: Hakim, A, Rozeik, C, Fedorcak, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180817/
https://www.ncbi.nlm.nih.gov/pubmed/30363610
http://dx.doi.org/10.1259/bjrcr.20150011
Descripción
Sumario:Neurodegeneration with brain iron accumulation (NBIA) is a subtype of inherited metabolic disorders. It includes pantothenate kinase-associated neurodegeneration (PKAN), which is a rare autosomal recessive disorder caused by the mutation of pantothenate kinase 2-gene (PANK2). It affects the deep grey matter nuclei causing progressive extrapyramidal motor impairment.1 We present a case of genetically proven PKAN in a child with mosaic trisomy 21 in which T2- hyperintensity of the basal ganglia was seen followed by the classic eye-of-the-tiger sign in a follow-up MRI.

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