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
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author Hakim, A
Rozeik, C
Fedorcak, M
author_facet Hakim, A
Rozeik, C
Fedorcak, M
author_sort Hakim, A
collection PubMed
description 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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spelling pubmed-61808172018-10-25 Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI Hakim, A Rozeik, C Fedorcak, M BJR Case Rep Case Report 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. The British Institute of Radiology 2015-07-07 /pmc/articles/PMC6180817/ /pubmed/30363610 http://dx.doi.org/10.1259/bjrcr.20150011 Text en © 2015 The Authors. Published by the British Institute of Radiology http://creativecommons.org/licenses/by/4.0/ This is an open access article under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
spellingShingle Case Report
Hakim, A
Rozeik, C
Fedorcak, M
Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
title Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
title_full Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
title_fullStr Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
title_full_unstemmed Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
title_short Pantothenate kinase-associated neurodegeneration (PKAN) in a child with Down syndrome. A case report and follow-up with MRI
title_sort pantothenate kinase-associated neurodegeneration (pkan) in a child with down syndrome. a case report and follow-up with mri
topic Case Report
url 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
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AT fedorcakm pantothenatekinaseassociatedneurodegenerationpkaninachildwithdownsyndromeacasereportandfollowupwithmri

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