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

PMID: 27303611


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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: 1394/4/17 | پذیرش: 1394/7/26 | انتشار: 1395/1/13

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