Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a r...

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Detalles Bibliográficos
Autores principales: Johnson, Peter, Melbourne-Chambers, Roxanne, Desai, Nilesh, Greenaway, Emma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926227/
https://www.ncbi.nlm.nih.gov/pubmed/24600523
http://dx.doi.org/10.1155/2014/858056
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author Johnson, Peter
Melbourne-Chambers, Roxanne
Desai, Nilesh
Greenaway, Emma
author_facet Johnson, Peter
Melbourne-Chambers, Roxanne
Desai, Nilesh
Greenaway, Emma
author_sort Johnson, Peter
collection PubMed
description We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations in PANK2. This is the first reported case of PKAN from the Caribbean.
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spelling pubmed-39262272014-03-05 Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male Johnson, Peter Melbourne-Chambers, Roxanne Desai, Nilesh Greenaway, Emma Case Rep Radiol Case Report We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations in PANK2. This is the first reported case of PKAN from the Caribbean. Hindawi Publishing Corporation 2014 2014-01-28 /pmc/articles/PMC3926227/ /pubmed/24600523 http://dx.doi.org/10.1155/2014/858056 Text en Copyright © 2014 Peter Johnson et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Johnson, Peter
Melbourne-Chambers, Roxanne
Desai, Nilesh
Greenaway, Emma
Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
title Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
title_full Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
title_fullStr Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
title_full_unstemmed Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
title_short Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male
title_sort neurodegeneration with brain iron accumulation in an eleven-year-old jamaican male
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926227/
https://www.ncbi.nlm.nih.gov/pubmed/24600523
http://dx.doi.org/10.1155/2014/858056
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