Sturge-Weber综合征24例的临床表现和影像学分析

Clinical and Neuroimaging Analysis of 24 Cases of Sturge-Weber Syndrome

目的分析斯特奇-韦伯综合征(Sturge-Weber syndrome,SWS)的临床表现和影像学特征,分析SWS患者面部鲜红斑痣(port-wine stains,PWS)的临床特点,初步提出SWS患者的筛查建议。方法对四川大学华西医院皮肤科2017-2019年间确诊的24例SWS的临床特征、影像学表现进行回顾性分析。分析3种不同的面部PWS分布划分方式(解剖分区、面部三叉神经分布、胚胎期面部脉管分布)在SWS筛查中的表现。结果24例SWS患者中男女性别比为1∶1,平均年龄(18.9±14.0)岁,其中SWSⅠ型患者12例,Ⅱ型12例。所有患者出生时即有面部PWS,13例(54.2%)患者的面部PWS为增厚型。根据解剖分区划分,本组病例中100%(24/24)SWS患者的面部PWS均累及面中部(口裂以上);根据面部三叉神经分布划分,100%(24/24)患者累及V2区;根据胚胎期面部脉管分布划分,本组病例中有95.8%(23/24)患者累及额部区域。22例患者有眼科异常,最常见的是青光眼(70.8%,17例);4例患者有癫痫史。12例(50%)SWS患者的神经影像学检查有异常表现,SWS的主要神经影像学表现包括软脑膜强化、皮层钙化、脉络丛增大、局灶性脑萎缩、颅内异常血管影以及颅骨异常等。结论建议对面部PWS使用解剖分区划分进行SWS筛查。出生后发现面中上部存在PWS的患儿应该早期进行眼科筛查,对高度怀疑SWS的患儿在1岁以后进行MRI检查,并且进行眼科和神经系统的规律随访。

Objective To analyze the clinical manifestations and neuroimaging characteristics of Sturge-Weber syndrome(SWS),to describe the manifestations of facial port-wine stains(PWS)of SWS,and to explore the screening opinions for SWS.Methods A retrospective analysis was performed on the general condition,clinical manifestations,and neuroimaging results of 24 SWS patients from the dermatology department of West China Hospital of Sichuan University between 2017 and 2019.Three different facial PWS distribution methods(traditional anatomical distribution,facial trigeminal nerve distribution,and facial embryological vasculature distribution)in SWS patients were Analysed.Results Among the 24 patients,50%were male and 50%were female,with an average age of(18.9±14.0)years(range 1 to 54 years old).12 cases were SWS typeⅠ,and the other 12 cases were typeⅡ.All patients had facial PWS at birth,and the facial PWS of 13 cases(54.2%)were thickened.According to the anatomical division,all the PWS involved the upper and middle face(above the oral commissure);according to the trigeminal nerve distribution,100%(24/24)patients involve the V2 area;according to the distribution of facial embryological vasculature,95.8%(23/24)of the patients involved frontal region.22 patients had ophthalmic abnormalities,the most common was glaucoma(70.8%),and 4 patients had a history of epilepsy.The typical neuroimaging presentations of SWS include leptomeningeal enhancement,cortical calcification,enlarged choroid plexus,focal cerebral atrophy,abnormal intracranial vessels,and local thickening of the skull.Conclusion Early intervention is recommended for facial PWS in patients with SWS,and ophthalmological screening should be performed on children with PWS found in any part of the upper and middle face after birth.Moreover,neuroimaging examination(MRI)for patients with high suspicion of SWS should be performed after 1 year old,and regular ophthalmological examination and intraocular pressure measurement is necessary.