CAJ | 학술논문

目的探讨Keutel综合征的临床特点及诊断.方法回顾性分析山东大学附属省立医院儿科诊断的1例Keutel综合征,并复习相关文献,分析本病的临床表现、影像学特点及治疗方法.结果患儿男,8个月26 d,临床表现为出生后吸气性呼吸困难,活动后加重.面中部塌陷,鼻梁低平,肺部听诊可闻及喘鸣音及湿哕音,胸骨左缘第2、3肋间闻及2/6级收缩期杂音.双上肢末节指骨短小.肺部影像学显示气管狭窄,气管-支气管管壁多发钙化影,超声心动图提示右肺动脉狭窄.曾经过支气管镜介入治疗及常规抗感染等对症支持治疗,病情好转.但出院21 d后因肺部再次感染死亡.从PubMed数据库检索到相关文献22篇共26例患者,临床主要表现为听力缺失(91％),持续呼吸道症状(68％),反复中耳炎或鼻窦炎(67％),生长发育延迟(52％)；体征主要有末节指骨短小(100％),鼻梁低平(95％),面中部发育不良(93％),心脏杂音(69％)；辅助检查可见软骨钙化(100％),肺动脉狭窄(72％),气管狭窄(50％).结论对面中部发育不良、软骨异常钙化并有末节指骨短小、肺动脉狭窄的患儿,要注意Keutel综合征的可能性.部分患儿有气管狭窄的临床表现.
목적 탐토Keutel종합정적림상특점급진단.방법 회고성분석산동대학부속성립의원인과진단적1례Keutel종합정,병복습상관문헌,분석본병적림상표현、영상학특점급치료방법.결과 환인남,8개월26 d,림상표현위출생후흡기성호흡곤난,활동후가중.면중부탑함,비량저평,폐부은진가문급천명음급습홰음,흉골좌연제2、3륵간문급2/6급수축기잡음.쌍상지말절지골단소.폐부영상학현시기관협착,기관-지기관관벽다발개화영,초성심동도제시우폐동맥협착.증경과지기관경개입치료급상규항감염등대증지지치료,병정호전.단출원21 d후인폐부재차감염사망.종PubMed수거고검색도상관문헌22편공26례환자,림상주요표현위은력결실(91％),지속호흡도증상(68％),반복중이염혹비두염(67％),생장발육연지(52％)；체정주요유말절지골단소(100％),비량저평(95％),면중부발육불량(93％),심장잡음(69％)；보조검사가견연골개화(100％),폐동맥협착(72％),기관협착(50％).결론 대면중부발육불량、연골이상개화병유말절지골단소、폐동맥협착적환인,요주의Keutel종합정적가능성.부분환인유기관협착적림상표현.
Objective To investigate the clinical characteristics,diagnosis and therapy of Keutel syndrome,and thereby to minimize the misdiagnosis.Method Data of a case of Keutel syndrome diagnosed at the Provincial Hospital Affiliated to Shandong University were analyzed and related literature were reviewed.Result An 8-month-26-day-old boy was presented with inspiratory and expiratory stridor and wheezing after movement on lung auscultation.His craniofacial appearance was characterized by midfacial hypoplasia with a broad depressed nasal bridge.The nose was small and flat.A grade 2-3/6 systolic murmur was heard between the second and third ribs at left edge of the sternum.The end phalanges of his fingers were thickened.Chest radiograph showed tracheobronchial cartilage calcification and tracheobronchial stenosis.Echocardiographic examination revealed the right pulmonary stenosis.With endoscopic surgery,antiobstructive and antibiotic therapy clinical symptoms were improved.Three weeks later he died of lung reinfection after he was discharged from our hospital.English literature search with "Keutel syndrome" as the key word at "PubMed" showed 22 articles covering 26 patients,and the clinical symptoms were hearing loss (91％),persistent respiratory symptoms (68％),recurrent otitis media/sinusitis (67％),growth development delay (52％) in turn,and signs were brachytelephalangism (100％),low nasal bridge (95％),midfacial hypoplasia (93％),cardiac murmur (69％),and auxiliary examinations showed abnormal cartilage calcification (100％),pulmonary arterial stenosis (72％),tracheobronchial stenosis (50％).Conclusion The diagnosis of Keutel syndrome should be considered in patients with brachytelephalangism,abnormal cartilage calcification,peripheral pulmonary stenosis,and midfacial hypoplasia.Tracheal stenosis was main clinical manifestation in part of patients.