دوره 7، شماره 2 - ( Spring 2016 -- 1395 )                   جلد 7 شماره 2 صفحات 165-166 | برگشت به فهرست نسخه ها




DOI: 10.15412/J.BCN.03070210
PMID: 27303611
PMCID: PMC4892321

Cited 0 times in PubMed Central

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Gothwal S, Nayan S. Case Report: Hallervorden–Spatz Syndrome with Seizures. BCN. 2016; 7 (2) :165-166
URL: http://bcn.iums.ac.ir/article-1-535-fa.html
Case Report: Hallervorden–Spatz Syndrome with Seizures. مجله علوم اعصاب پایه و بالینی. 1395; 7 (2) :165-166

URL: http://bcn.iums.ac.ir/article-1-535-fa.html


چکیده:  

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.

نوع مطالعه: News and Reports | موضوع مقاله: Cellular and molecular Neuroscience
دریافت: ۱۳۹۴/۴/۱۷ | پذیرش: ۱۳۹۴/۷/۲۶ | انتشار: ۱۳۹۵/۱/۱۳

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