摘要
目的探讨VACTERL综合征的临床表现和影像学等辅助检查特点以提高对该病的诊断认识。方法首次报道高海拔地区新生儿VACTERL综合征1例,并检索文献结合国内2000年以来已报道的16例新生儿VACTERL综合征进行文献复习。对包括本次病例在内的17例VACTERL患儿的临床特点和影像学检查等客观资料进行总结,并对其诊断及鉴别诊断进行分析。结果本例患儿主要表现为食管闭锁,食管气管瘘,右侧气管性支气管,脊柱侧弯及先天性心脏病等多发畸形,达到VACTERL综合征的诊断标准,故确诊为VACTERL综合征。17例患儿中男11例,女6例,食管闭锁16例,先天性心脏病12例,肛门闭锁10例,椎体缺陷8例,泌尿生殖系畸形2例,肢体畸形5例,气管发育异常2例。10例手术治疗(7例成活,3例术后死亡),7例家属放弃治疗后死亡。术后存活的7例随访3个月至5年均健康。结论 VACTERL综合征是一组少见的新生儿先天性畸形,食管闭锁、心脏畸形、肛门闭锁、脊柱缺陷、肾脏异常和肢体异常是其主要临床表现,影像学及超声检查有助于该病诊断。临床上对于出现上述畸形的患儿,应想到新生儿VACTERL综合征可能,完善检查进行诊断及鉴别诊断。诊断明确则早期手术治疗从而达到良好预后。
Objective To investigate the clinical manifestations and imaging features of VACTERL syndrome for improving the understanding of the diagnosis of the disease. Methods The first case of VACTERL syndrome in high altitude was reported. Sixteen neonatal VACTERL syndrome were selected by retrieving documents which had been reported since 2000. Clinical features and imaging data of all the 17 cases of children with VACTERL syndrome were summarized and the diagnosis and differential diagnosis were analyzed. Results The case reported currently mainly manifested as esophageal atresia, esophago tracheal fistula, right tracheal bronchus, scoliosis, congenital heart disease and other multiple malformations, which achieved the VACTERL syndrome diagnostic criteria. Therefore, it was diagnosed as VACTERL syndrome. There were 17 patients with 11 males and 6 females, 16 cases with esophageal atresia, 12 cases of with congenital heart disease, 10 cases with anal atresia, 8 cases with vertebral defects, 2 cases with genitourinary malformations, 5 cases with limb anomalies, 2 cases with trachea development abnormalities. The operations were conducted in 10 cases （7 survived, 3 died after operation）, while the other 7 died after giving up treatment. The 7 cases of postoperative survival were followed up for 3 months to 5 years of health. Conclusions VACTERL syndrome is a rare disease of neonatal congenital malformations. Its main clinical manifestations include esophageal atresia, heart malformation, anal atresia, vertebral defects, renal anomalies, and limb anomalies. The imaging and ultrasound examination are helpful to diagnose the disease. For patients with the above deformities, the neonatal VACTERL syndrome should be highly suspected, further examination is needed for diagnosis and differential diagnosis. Definitive diagnosis and early operation treatment can achieve good prognosis.
出处
《中华临床医师杂志（电子版）》
CAS
2016年第5期676-679,共4页
Chinese Journal of Clinicians(Electronic Edition)
