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溶酶体贮积病
Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention. This mini review summarizes clinical presentations and diagnostic workup of LSDs and updates the new development in the area.
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粘多糖贮积症的颅脑CT及MRI表现
目的:探讨粘多糖贮积症的颅脑CT及MRI表现特征.方法:对经临床和实验室检查确诊为粘多糖贮积症的6例患者行颅脑CT及MRI扫描,分析其影像学表现.6例患者均行CT平扫,其中2例行CT增强扫描;6例患者中4例行MRI检查,其中1例行增强扫描.结果:CT平扫6例中4例显示两侧大脑半球白质内散在低密度灶,增强后病灶未见强化;1例仅见脑室扩大,1例未见异常.MRI检查4例中2例显示脑实质多发小囊状信号由脑室边缘向各脑叶呈放射状分布,脑白质病变呈斑片状长T1、长T2信号,增强后所有脑内病灶均未见强化;1例脑室扩大,白质减少;1例仅显示脑白质信号异常.MRI还显示3例齿状突发育不良伴周围软组织增厚,2例颅颈结合区硬脑脊膜增厚伴椎管狭窄.本组1例行脑组织活检,电镜显示神经元内有空泡状包涵体及斑马体.结论:粘多糖贮积症的颅脑CT及MRI表现有一定特征,可在一定程度上为临床诊断、估计病损程度、监察病变进程及选择治疗方案提供依据.
