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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Radiology |
| Online Access: | http://dx.doi.org/10.1155/2014/858056 |
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| _version_ | 1849306295631347712 |
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| author | Peter Johnson Roxanne Melbourne-Chambers Nilesh Desai Emma Greenaway |
| author_facet | Peter Johnson Roxanne Melbourne-Chambers Nilesh Desai Emma Greenaway |
| author_sort | Peter Johnson |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-2e0545cd31b74656b3cbc3e02a71d990 |
| institution | Kabale University |
| issn | 2090-6862 2090-6870 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Radiology |
| spelling | doaj-art-2e0545cd31b74656b3cbc3e02a71d9902025-08-20T03:55:07ZengWileyCase Reports in Radiology2090-68622090-68702014-01-01201410.1155/2014/858056858056Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican MalePeter Johnson0Roxanne Melbourne-Chambers1Nilesh Desai2Emma Greenaway3Department of Surgery, Radiology, Anaesthetics and Intensive Care, Faculty of Medical Sciences, University of the West Indies (Mona Campus), Kingston, JamaicaDepartment of Child and Adolescent Health, Faculty of Medical Sciences, University of the West Indies (Mona Campus), Kingston, JamaicaDepartment of Radiology and Imaging Sciences, Emory University School of Medicine, Emory University Hospital, BG21, 1364 Clifton Road, Atlanta, GA 30322, USADepartment of Child and Adolescent Health, Faculty of Medical Sciences, University of the West Indies (Mona Campus), Kingston, JamaicaWe 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.http://dx.doi.org/10.1155/2014/858056 |
| spellingShingle | Peter Johnson Roxanne Melbourne-Chambers Nilesh Desai Emma Greenaway Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male Case Reports in Radiology |
| 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 |
| url | http://dx.doi.org/10.1155/2014/858056 |
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