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伴有癫痫发作的苍白球黑质红核色素变性综合征

Hallervorden-Spatz Syndrome with Seizures.

作者信息

Gothwal Sunil, Nayan Swati

机构信息

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Department of Obstetrics and Gynecology, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.

出版信息

Basic Clin Neurosci. 2016 Apr;7(2):165-6. doi: 10.15412/J.BCN.03070210.

Abstract

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.

摘要

哈勒沃登-施帕茨综合征是一种以肌张力障碍、帕金森症和脑部铁蓄积为特征的疾病。该疾病由编码泛酸激酶2(PANK2)的基因突变引起,患者患有泛酸激酶相关神经退行性变。我们报告一名8岁男孩,患有进行性肌肉肌张力障碍、神经功能衰退、频繁跌倒以及不同阶段的多处损伤痕迹。PANK2相关疾病很少出现癫痫发作。该患儿4岁时开始出现癫痫发作,使用丙戊酸盐和左乙拉西坦后无癫痫发作。CT扫描显示有虎眼征以及PANK2基因存在突变。

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