摘要对2023年11月山东大学附属儿童医院神经内科收治的1例多小脑回伴血管型Ehlers-Danlos综合征患儿的临床特征及 COL3A1基因突变特点进行分析，并进行文献复习总结。患儿，女，10岁，存在癫痫发作、眼球运动异常、远视及眼球震颤、瘀斑易感性、运动及语言发育迟缓、智力发育受损等临床表现，影像学检查提示多小脑回、小脑发育不良，既往有脾破裂、胃出血病史。患儿姐姐存在特殊面容、眼球震颤、斜视、弱视及散光、瘀斑易感性、运动及语言发育迟缓、智力发育受损，影像学检查存在巨脑回及多小脑回畸形，既往有多次肺出血病史。家系全外显子测序检测发现患儿及患儿姐姐携带 COL3A1基因的c.3409G>A、c.811C>T复合杂合变异。目前国外已报道2种纯合突变位点以及2种复合杂合变异位点的多小脑回伴或不伴血管型Ehlers-Danlos综合征病例，国内未见报道。本例患儿为 COL3A1基因复合杂合突变，2个变异位点未见文献报道，扩展了该疾病的表型谱和变异谱。

abstractsThe clinical features and COL3A1 gene mutation characteristics of a child with polymicrogyria accompanied by vascular Ehlers-Danlos syndrome (vEDS) admitted to the Department of Neurology, Children′s Hospital Affiliated to Shandong University in November 2023 were reported and related literature was reviewed.The patient was an 10-year-old female who presented with clinical manifestations such as epileptic seizures, abnormal eye movements, hyperopia and nystagmus, bruise susceptibility, delayed motor and language development, and impaired intellectual development.Imaging examinations revealed polymicrogyria and cerebellar hypoplasia.The patient had splenic rupture and gastric bleeding in the past.The patient′s elder sister displayed distinct facial features, nystagmus, strabismus, amblyopia and astigmatism, bruise susceptibility, delayed motor and language development, and impaired intellectual development.Her imaging examinations revealed pachygyria and polymicrogyria malformations, and she had a history of multiple episodes of pulmonary hemorrhage.Whole-exome sequencing of the family identified compound heterozygous mutations in the COL3A1 gene, specifically c. 3409G>A and c. 811C>T, in both the patient and her elder sister.To date, 2 homozygous mutation sites and 2 compound heterozygous variant sites associated with polymicrogyria with or without vEDS have been reported internationally, but no such cases have been documented in China.This case represents a compound heterozygous mutation in the COL3A1 gene, with neither of the 2 variant types and sites previously reported in the literature.Thus, this case expands the phenotypic and mutational spectrum of this disease.