儿童Sturge-Weber综合征27例临床及影像学特征分析

【摘要】 目的 分析儿童Sturge-Weber 综合征的临床及影像学特征。方法 回顾性分析徐州医科大学附属徐州儿童医院2013年7月至2019年12月诊治的27例儿童Sturge-Weber 综合征患者的临床资料。结果 27例患儿中，男17例，女10例，就诊年龄2 d至10岁7个月，平均2.54岁。27例均有面部鲜红斑痣，皮损分布跨越面部中线位置，淡红色至紫红色不等，其中偏侧优势分布者21例，双侧对称分布者6例。17例患儿合并眼脉络膜血管畸形，其中先天性青光眼14例，眼压高5例，视神经萎缩伴短暂性失明1例。神经系统损害主要临床表现为癫痫，12例。27例均行影像学检查，其中20例发现异常：计算机断层扫描检查结果异常的10例中8例有局部钙化灶，8例皮损侧颅骨局部增厚；核磁共振平扫检查结果异常的14例中13例有脑萎缩征象；9例核磁共振增强检查提示脑回样强化血管影；5例核磁共振血管造影提示患侧大脑前中动脉分支减少等异常征象。结论 Sturge-Weber 综合征患儿以面部鲜红斑痣偏侧优势分布为主要临床特征，部分伴有癫痫、青光眼或智力低下，影像学检查提示局部钙化灶、脑萎缩、局部颅骨板障增厚、脑回样强化血管影等异常，需早期明确诊断后系统综合治疗，降低致残率及致死率，并长期随访。

Clinical and imaging features of 27 cases of childhood Sturge-Weber syndrome

【Abstract】 Objective To analyze clinical and imaging features of Sturge-Weber syndrome in children. Methods Clinical data were collected from 27 children with Sturge-Weber syndrome in Xuzhou Children′s Hospital, Xuzhou Medical University from July 2013 to December 2019, and analyzed retrospectively. Results Among the 27 children, 17 were males and 10 were females. Their age at the clinic visit ranged from 2 days to 10 years and 7 months, and averaged 2.54 years. All the 27 patients presented with facial port-wine stains of varied color from light red to purple red, which were all distributed across the facial midline, including 21 with predominantly unilateral port-wine stains and 6 with bilateral symmetrical port-wine stains. There were 17 patients with ocular choroidal vascular malformations, including 14 with congenital glaucoma, 5 with high intraocular pressure, and 1 with optic nerve atrophy accompanied by transient blindness. Neurological impairment occurred in 12 patients, and all manifested as epilepsy. All the 27 children underwent imaging examination, and abnormalities were found in 20. Among the 10 patients with abnormal computed tomography images, local calcification was observed in 8, and local thickening of the skull on the side affected by skin lesions in 8; 13 of 14 patients with abnormal magnetic resonance imaging scan results had signs of brain atrophy, 9 showed enhanced gyrus-like blood vessel formation by enhanced magnetic resonance imaging, and 5 showed decreased branches of the anterior and middle cerebral artery on the affected facial side by magnetic resonance angiography. Conclusions Children with Sturge-Weber syndrome are clinically characterized by predominantly unilateral port wine stains on the face, some of whom are accompanied by epilepsy, glaucoma or mental retardation, and imaging examinations mainly show local calcification, brain atrophy, local thickening of the skull plate, enhanced gyrus-like blood vessel formation, etc. Early definite diagnosis and comprehensive systemic treatment are needed to reduce disability and mortality rates in patients with Sturge-Weber syndrome, and long-term follow-up should be considered.