Wang L J, Sun J H, Bei F
Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Zhonghua Er Ke Za Zhi. 2020 Jul 2;58(7):591-595. doi: 10.3760/cma.j.cn112140-20200312-00221.
To study the clinical characteristics and current treatment of neonatal capillary malformation-arteriovenous malformation (CM-AVM). Clinical data of a newborn diagnosed with neonatal CM-AVM caused by RASA1 gene variation admitted to Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine was retrospectively analyzed, and related literature was reviewed. Databases of CNKI, WanFang, and Pubmed were searched for the literature from January 1, 2009 to December 31, 2018, with the keywords of "capillary malformation-arteriovenous malformation" "neonatal" and "RASA1 gene" . The clinical features of neonatal CM-AVM were summarized. A one-day-old male infant was admitted to hospital due to swelling of both lower extremities with erythema with elevated skin temperature, who later presented with acute heart failure on the third day of hospitalization. A giant spinal arteriovenous fistula was identified by abdominal contrast-enhanced computed tomography and digital subtraction angiography. After surgical ligation of two feeding arteries, both heart failure and lower limb swelling improved. Genetic testing detected a novel paternal heterozygous variation of RASA1 gene. Digital subtraction angiography showed that spinal AVM still exist at the age of 6 months, but the heart function was good. A total of 4 cases of neonatal CM-AVM had been reported in 3 papers. According to these 5 cases, the clinical manifestations of neonatal CM-AVM were summarized: multiple dermal capillary malformation (5 cases), limb swelling or head circumference enlargement (5 cases), arteriovenous malformation (5 cases), congestive heart failure (4 cases) and positive family history (5 cases). CM-AVM is a rare disease and could present early in neonatal period. Capillary malformation and congestive heart failure of unknown origin in infants may indicate the existence of CM-AVM, and timely imaging and genetic test will help early diagnosis and treatment, and improve prognosis.
研究新生儿毛细血管畸形-动静脉畸形（CM-AVM）的临床特征及当前治疗方法。回顾性分析上海交通大学医学院附属上海儿童医学中心收治的1例因RASA1基因变异导致新生儿CM-AVM的临床资料，并复习相关文献。检索中国知网、万方和PubMed数据库中2009年1月1日至2018年12月31日的文献，关键词为“毛细血管畸形-动静脉畸形”“新生儿”和“RASA1基因”。总结新生儿CM-AVM的临床特征。1例1日龄男婴因双下肢肿胀伴皮肤红斑、皮温升高入院，住院第3天出现急性心力衰竭。经腹部增强CT和数字减影血管造影检查发现巨大的脊髓动静脉瘘。手术结扎2条供血动脉后，心力衰竭和下肢肿胀均有所改善。基因检测发现RASA1基因存在一种新的父系杂合变异。数字减影血管造影显示6个月龄时脊髓动静脉畸形仍然存在，但心功能良好。3篇文献共报道4例新生儿CM-AVM。根据这5例病例，总结新生儿CM-AVM的临床表现为：多发性皮肤毛细血管畸形（5例）、肢体肿胀或头围增大（5例）、动静脉畸形（5例）、充血性心力衰竭（4例）和家族史阳性（5例）。CM-AVM是一种罕见病，可在新生儿期早期出现。婴儿不明原因的毛细血管畸形和充血性心力衰竭可能提示CM-AVM的存在，及时进行影像学检查和基因检测有助于早期诊断和治疗，并改善预后。
