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case report: hallervorden–spatz syndrome with seizures
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نویسنده
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gothwal sunil ,nayan swati
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منبع
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basic and clinical neuroscience - 2016 - دوره : 7 - شماره : 2 - صفحه:165 -166
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چکیده
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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 andmultiple 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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کلیدواژه
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pantothenate kinase-associated neurodegeneration ,autosomal recessive ,seizures
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آدرس
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department of pediatrics, all india institute of medical sciences, new delhi, india., هندوستان, department of obstetrics and gynecology, sawai man singh medical college, jaipur, rajasthan, india., ایران
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پست الکترونیکی
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dr.swatigothwal@gmail.com
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Authors
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