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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...

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Detalles Bibliográficos
Autores principales: Gothwal, Sunil, Nayan, Swati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Neuroscience Society 2016
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.
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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
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