儿童Sturge-Weber综合征影像学诊断

Imaging diagnosis of Sturge-Weber syndrome in children

目的:探讨Sturge-Weber综合征(SWS)的临床特点及CT、MRI等影像诊断价值,总结SWS最适当的影像诊断方法。方法:回顾性分析及总结44例SWS患儿的临床及影像学特点。结果:44例SWS中临床表现为癫痫发作35例,33例有颜面部血管瘤,均位于三叉神经分布区;4例伴有头痛,4例伴有一侧肢体乏力。30例SWS患儿行CT检查;38例行MRI检查(增强34例),1例行磁共振波谱(MRS).5例行磁敏感序列(SW1)扫描;14例行DSA检查。经各项影像诊断结合临床表现,44例均有脑内软脑膜血管瘤(12例累及双侧)。头颅CT可清晰显示脑回样钙化(25例)。MRI增强软脑膜强化伴静脉畸形(34例),脉络膜丛增大强化(21例),病侧不同程度脑萎缩(34例)。10例眼环增厚,提示青光眼(1例双侧青光眼术后)。2例伴额面部皮肤增厚。结论:SWS是一种少见疾病,在儿童临床表现怀疑sws病例,建议行CT平扫、MRI增强及SWI序列进行早期诊断及随访复查。

Objective:To summarize the clinical manifestations,image characteristics and proper imaging modalities of di-agnosis of Sturge-W eber syndrome(SWS),and to improve the understanding and reduce misdiagnosis of SWS.Methods:Clini-cal features,CT,MRI and DSA images of 44 children with SWS were retrospectively reviewed.Results:Forty-four cases had ipsilateral leptomeningeal angiomatosis(12 cases were bilateral)diagnosed with CT,MRI and DSA,children presenting with seizures(n=35),ipsilateral port-wine nevus affecting the area innervated by the first and second sensory branch of the trigemi-nal nerve(n=33),headache(n=4),hemiparesis(n=4).CT,MRI and DSA examinations were performed in 30,38 and 14 children respectively.One child had MR spectroscopy(MRS)and 5 children had further study of susceptibility weighted imaging(SWI).Forty-four SWS children were diagnosed with ipsilateral leptomeningeal angiomatosis after different imaging modalities and clinical manifestations.CT images showed gyriform calcifications in different regions(n=25),especially in the occipitoparietal,frontoparietal,temporoparietal or fronto-temporo-occipital regions.Ipsilateral leptomeningeal angiomatosis and abnormal veins(n=34),choroidal angioma(n=21),cerebral atrophy(n=34),and glaucoma(n=10)were shown in postcontrast MRI in 34 children.Conclusion:SWS is a rare sporadic and congenital neurocutaneous syndrome.CT is sensitive in gyriform calcifications.MRI has advantages of non-radiation and multi-planar scanning.Contrast enhanced MRI and SWI sequence should be suggested in any child presented with epilepsy and intracranial unilateral calcification,which can also be used as the preferred imaging method for the early diagnosis and follow-up study of SWS.