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Hallervorden–Spatz Syndrome with Seizures
Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy wi...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Iranian Neuroscience Society
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892321/ https://www.ncbi.nlm.nih.gov/pubmed/27303611 http://dx.doi.org/10.15412/J.BCN.03070210 |
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author | Gothwal, Sunil Nayan, Swati |
author_facet | Gothwal, Sunil Nayan, Swati |
author_sort | Gothwal, Sunil |
collection | PubMed |
description | Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of different stages. Seizures are rare with PANK2. This child had seizure onset at 4 years of age and seizure free on valproate and levetricetam. The CT scan showed tiger eye appearance and mutations on PANK2 gene. |
format | Online Article Text |
id | pubmed-4892321 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Iranian Neuroscience Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-48923212016-06-14 Hallervorden–Spatz Syndrome with Seizures Gothwal, Sunil Nayan, Swati Basic Clin Neurosci Case Report Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia, neuroregression, frequent fall and multiple injury marks of different stages. Seizures are rare with PANK2. This child had seizure onset at 4 years of age and seizure free on valproate and levetricetam. The CT scan showed tiger eye appearance and mutations on PANK2 gene. Iranian Neuroscience Society 2016-04 /pmc/articles/PMC4892321/ /pubmed/27303611 http://dx.doi.org/10.15412/J.BCN.03070210 Text en Copyright© 2016 Iranian Neuroscience Society This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. |
spellingShingle | Case Report Gothwal, Sunil Nayan, Swati Hallervorden–Spatz Syndrome with Seizures |
title | Hallervorden–Spatz Syndrome with Seizures |
title_full | Hallervorden–Spatz Syndrome with Seizures |
title_fullStr | Hallervorden–Spatz Syndrome with Seizures |
title_full_unstemmed | Hallervorden–Spatz Syndrome with Seizures |
title_short | Hallervorden–Spatz Syndrome with Seizures |
title_sort | hallervorden–spatz syndrome with seizures |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892321/ https://www.ncbi.nlm.nih.gov/pubmed/27303611 http://dx.doi.org/10.15412/J.BCN.03070210 |
work_keys_str_mv | AT gothwalsunil hallervordenspatzsyndromewithseizures AT nayanswati hallervordenspatzsyndromewithseizures |