摘要
目的分析儿童Sturge?Weber综合征(SWS)患者面部鲜红斑痣分布特征及颅脑影像学特点。方法回顾性分析2017年7月至2020年8月在首都儿科研究所附属儿童医院皮肤科确诊的22例儿童SWS患者临床表现及影像学资料,探讨SWS患儿鲜红斑痣沿面部三叉神经分布特征及颅脑影像学特点。结果22例患儿中,男10例,女12例,年龄0.08~9.92岁,中位年龄1.67岁。SWSⅠ型13例,Ⅱ型9例。鲜红斑痣分型:粉红型4例,年龄0.50~2.17岁;紫红型14例,年龄0.08~8.83岁;增厚型4例,年龄4.92~9.92岁;按颜面部三叉神经分布,三叉神经眼支(V1)区22例,上颌支(V2)区20例,下颌支(V3)区8例。眼部异常患儿17例,年龄0.08~9.92岁,其中青光眼11例,眼压增高5例,视力受损2例。青光眼患儿中,7例于2岁内发病,8例为单侧发病,3例为双侧发病,且与鲜红斑痣同侧。12例患儿颅脑影像学表现异常,主要为大脑皮层血管畸形,累及额叶、顶叶、颞叶及枕叶;其他表现为脑萎缩、点状出血、钙化灶、脑沟增宽、中线结构偏移、脑室脉络丛血管增多。11例患儿有癫痫症状,其他神经系统表现为发育迟缓、智力低下、肢体活动障碍等。结论颜面部三叉神经V1及V2区分布的鲜红斑痣可能提示更高的SWS发病风险,应行眼科及颅脑影像学筛查及长期随访。
Objective To analyze distribution characteristics of facial port-wine stains and brain imaging features of children with Sturge-Weber syndrome(SWS).Methods Clinical and imaging data were collected from 22 children with confirmed SWS at Department of Dermatology,Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to August 2020,and retrospectively analyzed.The distribution characteristics of port-wine stains along the facial trigeminal nerve and brain imaging features were investigated in these children with SWS.Results Among the 22 children,10 were males and 12 were females.Their age ranged from 0.08 to 9.92 years,and the median age was 1.67 years.There were 13 cases of SWS typeⅠand 9 cases of SWS typeⅡ.In terms of the port-wine stain type,4 children were diagnosed with pink port-wine stains,aged from 0.50 to 2.17 years;14 were diagnosed with purple port-wine stains,aged from 0.08 to 8.83 years;4 were diagnosed with thickened port-wine stains,aged from 4.92 to 9.92 years.Port-wine stains were distributed in the ophthalmic(V1)division of trigeminal nerve in 22 patients,in the maxillary(V2)division in 20 patients,and in the mandibular(V3)division in 8 patients.There were 17 children with ocular abnormalities,aged from 0.08 to 9.92 years,including 11 with glaucoma,5 with elevated intraocular pressure and 2 with visual impairment.Among the children with glaucoma,7 developed glaucoma within 2 years of age,8 suffered from unilateral glaucoma,and 3 from bilateral glaucoma,and glaucoma occurred on the same side as port-wine stains.Brain imaging abnormalities were observed in 12 children,and mainly included vascular malformations in the cerebral cortex involving the frontal,parietal,temporal and occipital lobes,as well as cerebral atrophy,punctate hemorrhage,calcification,sulcal widening,midline deviation and increased intraventricular choroid plexus vessels.Eleven children had symptoms of epilepsy and other neurological manifestations,including developmental delay,mental retardation and physical impairment.Conclusion Port-wine stains distributed in the V1 and V2 divisions of the facial trigeminal nerve may indicate a higher risk of SWS,and ophthalmic and brain imaging screening as well as long-term follow-up should be performed.
作者
苏伟
邓维
孙雪峰
张升
刘晓雁
Su Wei;Deng Wei;Sun Xuefeng;Zhang Sheng;Liu Xiaoyan(Department of Dermatology,Children′s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China;Department of Radiology,Children′s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China)
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
2022年第5期417-421,共5页
Chinese Journal of Dermatology
基金
国家自然科学基金(82073461)。
