DOORS综合征一例病例报道及文献复习  

DOORS Syndrome:a Case Report and the Literature Review

作　　者：艾丹阳 周建国 AI Dan-yang;ZHOU Jian-guo(Neonatology department,Children’s Hospital of Fudan University,Shanghai,201102)

机构地区：[1]复旦大学附属儿科医院新生儿科,上海201102

出　　处：《农垦医学》2021年第1期93-96,共4页Journal of Nongken Medicine

摘　　要：目的:通过一例DOORS(耳聋-指甲发育不良-骨发育不良-神经发育迟缓-惊厥)综合征新生儿病例报道及文献复习,分析该病的临床特点及诊断。方法:报道复旦大学附属儿科医院收治的1例DOORS综合征病例,结合文献复习,分析DOORS综合征的临床特点、诊断等。结果:一例足月出生新生儿,因出生后反复惊厥入院,入院查体发现面容粗狂,指/趾甲发育不良,小指短,心前区杂音,肌张力低下。脑干诱发电位显示极重度听力损害,手足部影像学检查提示指/趾骨发育不良,头颅磁共振检查提示脑干及双侧基底节区异常信号,脑电图有多灶尖波,尖慢波发放,心脏彩超提示室间隔缺损,卵圆孔未闭。通过文献检索,自2000年以来,10篇病例报道发表,包括本例患儿在内,共报道13例患者。男性患者7例,女6例,除DOORS特征性表现外;脑部影像学检查异常,先天性心脏病等是常见合并症。结论:DOORS综合征发病率低,临床上一旦发现指/趾甲发育不良、惊厥的患儿,需进一步检查,警惕其他相关畸形,如耳聋、神经发育迟缓等,以便早期诊断,评估相关并发症,及时干预,改善预后。Objective:To detect the clinical characteristics of DOORS syndrome and to review the latest relevant clinical literatures.Method:Clinical features and investigations of a case with DOORS syndrome admitted to Children’s hospital of Fudan University was reported.Clinical characteristics of DOOR syndrome cases reported in English databases such as PubMed and OVID were analyzed and reviewed.Results:A male neonate was admitted to neonatal intensive care unit due to refractory seizure events,and physical examinations and following investigations revealed deafness,onychodystrophy,osteodystrophy,mental retardation.So the diagnosis of DOORS syndrome was confirmed.After literature review since 2000,thirteen cases including the current case with DOORS syndrome were retrieved and analyzed.Associated clinical symptoms and anomalies apart from the typical five anomalies of DOORS included abnormal cranial CT/MRI images,and congenital heart defects.Conclusions:DOORS syndrome as a rare disease should be suspected when nail dystrophy and seizure are found in the clinical practice.Identification of associated malformations and close follow-up are required,and interventions should be carried out early in order to ensure a good outcome.

关 键 词：DOORS综合征 耳聋 指甲发育不良 骨发育不良 神经发育迟缓 惊厥 

分 类 号：R722.1[医药卫生—儿科]