Introduction The objective of this study is to summarize the clinical characteristics and management of rare diseases of colorectal vascular malformation (CRVM) in children.

Methods We retrospectively analyzed the clinical data of CRVM patients admitted to the Children's Hospital of Fudan University from 2004 to 2019.

Results A total of 23 cases (16 males, 7 females) were enrolled. The median age of symptom onset was 1.4 years. Hematochezia and anemia were cardinal symptoms. Fourteen patients (60.9%) were misdiagnosed as anal fissures (n = 4), internal hemorrhoids (n = 3), rectal polyps (n = 2), inflammatory bowel disease (n = 2), portal hypertension (n = 2), and Meckel's diverticulum (n = 1), respectively. The average time from symptom onset to diagnosis was 4.5 ± 4.4 years. Other vascular malformations were detected in eight patients (34.8%). All patients showed a positive anomalous vascular image on contrast-enhanced computed tomography (CT) or magnetic resonance imaging (MRI). The sensitivity of colonoscopy in the diagnosis of CRVM was 82.6% (19/23). A total of 21 patients underwent a modified Soave procedure. The lesions were mostly restricted to the colorectum and showed transmural diffuse distribution, with an average length of 20 ± 5.4 cm. Two patients (9.5%) experienced surgical complications. Bloody stools reappeared in two patients (9.5%), and colonoscopy showed abnormal angiogenesis at the anastomotic site, which were cured by sclerotherapy and/or electrocautery. The median follow-up time was 78 months. Bloody stools were absent at the last time of follow-up, and hemoglobin was in the normal range for all patients.

Conclusion The identification of CRVM in children often is delayed. Colonoscopy, CT, and MRI are essential in making the correct diagnosis. The modified Soave procedure is safe and feasible to treat CRVM in children. Endoscopic sclerotherapy and/or electrocautery can be used for residual lesions.

引言 本研究的目的是总结儿童结直肠血管畸形（CRVM）罕见疾病的临床特征和治疗。

方法 回顾性分析2004年至2019年复旦大学附属儿童医院收治的CRVM患者的临床资料。

结果 共纳入23例（男16例，女7例）。症状发作的中位年龄为 1.4 岁。便血和贫血是主要症状。14例患者（60.9%）被误诊为肛裂（n  =4）、内痔（n  =3）、直肠息肉（n  =2）、炎症性肠病（n  =2）、门脉高压症（n  =2）、和梅克尔憩室（n  = 1）。从症状出现到诊断的平均时间为 4.5 ± 4.4 年。8 名患者（34.8%）发现其他血管畸形。所有患者在对比增强计算机断层扫描 (CT) 或磁共振成像 (MRI) 上均显示出阳性异常血管图像。结肠镜诊断CRVM的敏感性为82.6%（19/23）。共有 21 名患者接受了改良的 Soave 手术。病灶多局限于结直肠，呈透壁弥漫性分布，平均长度20±5.4 cm。两名患者 (9.5%) 出现手术并发症。两名患者（9.5%）再次出现血便，结肠镜检查显示吻合口血管生成异常，经硬化剂治疗和/或电灼治愈。中位随访时间为 78 个月。末次随访时均未出现血便，血红蛋白均在正常范围内。

结论 儿童CRVM的发现常被延误。结肠镜检查、CT 和 MRI 对于做出正确诊断至关重要。改良Soave手术治疗儿童CRVM是安全可行的。内窥镜硬化疗法和/或电灼可用于残留病灶。