摘要报道1例罕见的多小脑回伴血管型埃勒斯-当洛斯综合征(vEDS)病例。患儿，女，16岁9个月，2024年3月于首都医科大学附属首都儿童医学中心呼吸科住院，主要临床表现为反复咯血和肺内空洞，头颅影像学检查提示双侧额叶多小脑回畸形。基因检测发现患儿存在 COL3A1基因复合杂合突变(c.811C>T和c.3409G>A)，与其患有癫痫和脾破裂病史的妹妹相同，且突变分别来自父母。本病例的诊断和治疗过程为临床医师提供了参考，强调了早期识别和基因检测在vEDS管理中的重要性。

abstractsThis report presents a rare case of polymicrogyria with vascular Ehlers-Danlos syndrome (vEDS).The patient, female, aged 16 years and 9 months, was admitted to the Department of Respiratory Medicine, Captial Center for Children′s Health, Capital Medical University in March 2024, with clinical manifestations of recurrent hemoptysis and intrapulmonary cavities.Brain imaging findings revealed bilateral frontal polymicrogyria.Genetic testing identified compound heterozygous mutations in the COL3A1 gene (c.811C>T and c. 3409G>A), which were identical to those found in the patient′s younger sister with epilepsy and splenic rupture.The mutations were respectively inherited from the parents.The diagnosis and treatment of this case provide a reference for clinicians and underscore the significance of early recognition and genetic testing in the management of vEDS.