case report: hallervorden–spatz syndrome with seizures
نویسندگان
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.
منابع مشابه
Case Report: 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 with progressive muscle dystonia, neuroregression, frequent fall and multiple injur...
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عنوان ژورنال:
basic and clinical neuroscienceجلد ۷، شماره ۲، صفحات ۱۶۵-۱۶۶
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