MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
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DOI：
10.1016/j.braindev.2012.07.008
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发表时间：
2013-05-01
影响因子：
1.7
通讯作者：
Sugimoto, Hideharu
中科院分区：
文献类型：
--
作者：
Kimura, Yukio;Sato, Noriko;Sugimoto, Hideharu
儿童期静态脑病伴成年期神经退行性变（SENDA）是最近发现的一种疾病，是神经退行性变伴脑铁积累（NBIA）的一种亚型。我们报告了首例森达性病例，患者为39岁女性。她从小就有精神运动障碍，二十年来一直保持静止。然后，在30岁时，她患上了严重的肌张力障碍和帕金森病。脑MRI示苍白球及黑质t2加权低信号，黑质t1加权高信号伴中央低信号区。这些临床和影像学表现是SENDA的特征。高级MRI，包括H-1-MR光谱（MRS）和弥散张量成像（DTI），显示了类似的泛酸激酶相关神经变性（PKAN）的发现，这是SENDA的主要综合征。MRI在NBIA尤其是SENDA的诊断中起着至关重要的作用。(c) 2012年日本儿童神经病学学会。Elsevier B.V.版权所有。
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established disorder that is a subtype of neurodegeneration with brain iron accumulation (NBIA). We presented the first case report of SENDA of a 39-year-old female. She had psychomotor retardation from childhood and remained static for two decades. Then, at the age of 30, she developed severe dystonia and parkinsonism. Brain MRI revealed T2-weighted hypointensity signal in the globus pallidus and substantia nigra, and T1-weighted hyperintensity signal in the substantia nigra with a central hypointensity area. These clinical and imaging findings are characteristic of SENDA. Advanced MRI, including H-1-MR spectroscopy (MRS) and diffusion tensor imaging (DTI), demonstrated similar findings of pantothenate kinase-associated neurodegeneration (PKAN), which is a major syndrome of SENDA. MRI plays a crucial role in the diagnosis of NBIA, especially SENDA. (c) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.