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.

CT and MRI Findings of the Brain in Patients with Mucopolysaccharidosis

Objective:To study the CT and MRI features of the brain in patients with mucopolysaccharidosis.Methods:The CT and MRI findings of the brain were retrospectively analyzed in 6 patients with mucopolysaccharidosis diagnosed by clinical and laboratory materials.All of these 6 patients had plain CT,2 patients had contrast enhanced CT of brain;4 patients had plain MRI,1 patient had enhanced MRI of brain additionally.Results:Diffusely scattered low density areas in bilateral cerebral white matter were showed in 4 patients with plain CT,which showed no enhancement after contrast medium administration.CT showed only ventriculomegaly and no cerebral abnormality in 1 case each.Of the 4 patients had plain MRI,multiple cystic areas radiating out from the ventricles into all cerebral lobes,plaque-like white matter lesions displaying long T1 and long T2 signal intensities were revealed in 2 patients.All lesions of the brain showed no enhancement after intravenously administration of GD-DTPA;1 patient showed ventriculomegaly and decrease of myelination;another one showed abnormal signal intensities of white matter.Odontoid bone dysplasia and surrounding soft tissue thickening (n=3),dura mater thickening at the cranio-cervical junction and subarachnoid space narrowing (n=2) were showed.1 patient underwent brain biopsy,vacuolar inclusion bodies and zebra bodies revealed in the neuron by electron microscopy examination.Conclusion:The CT and MRI findings of the brain in patients with mucopolysaccharidosis may provide helpful information to a certain extent for clinical diagnosis,to estimate the extent of damages,to monitor the prognosis as well as treatment planning.