中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2015年
4期
290-295
,共6页
金丹群%丁洁%童文佳%胡克非
金丹群%丁潔%童文佳%鬍剋非
금단군%정길%동문가%호극비
肺水肿%基因%Leigh综合征
肺水腫%基因%Leigh綜閤徵
폐수종%기인%Leigh종합정
Pulmonary edema%Genes%Leigh syndrome
目的 探讨以急性肺出血为突发表现的Leigh综合征的临床、影像学特点及基因分析.方法 对2例分别于2012年和2014年入住安徽省儿童医院的以急性肺出血为突发表现的Leigh综合征患儿(男1例、女1例)临床特点和影像资料进行总结.2例患儿就诊年龄分别为7个月和7个月21 d,入院时均呈突发呼吸异常、肺出血而需紧急气管插管机械通气.例1既往4个月大时有类似发作病史,发作间歇期精神运动发育均正常,无神经系统异常表现.例2在5个月时曾因生长发育迟缓就诊,头颅MRI检查未见异常,但当时未行弥散加权成像(DWI)扫描.2例患儿均抽取静脉血送广州金域医学检验中心分子遗传室进行基因分析,通过提取外周血DNA,进行PCR扩增并测序,与参考序列(NC_012920.1)进行比较,从而发现可能存在的基因突变.结果 (1)例1入院检查血乳酸1.58 mmol/L,丙酮酸0.25 mmol/L,脑脊液乳酸6.4 mmol/L,均明显增高.例2患儿平时即有运动发育落后,肌张力低下等神经系统的发育异常,入院检查血乳酸6.8 mmol/L,丙酮酸0.31 mmol/L,脑脊液乳酸8.2 mmol/L.(2)影像检查:2例患儿胸部X线片均提示肺泡内大量渗出.例1头颅MRI:常规序列未见明显异常信号,DWI序列双侧尾状核及豆状核高信号.磁共振血流量扫描(MRS)未见乳酸双峰.例2头颅MRI检查提示:两侧大脑半球、基底节区、大脑脚、小脑及桥脑,胼胝体压部多发异常信号,多体素MRS病灶区NAA峰明显减低,Cho峰明显升高,可见高耸双乳酸峰.(3)基因检测:例1发现与Leigh综合征相符的致病ATPase6 m.9185T＞C突变.例2发现线粒体DNA的一个“杂合”突变:m.10191T＞C.2例患儿Leigh综合征诊断明确,给予机械通气支持呼吸、限制液体减轻肺部渗出、辅酶Q10、左旋肉碱等综合治疗,例1患儿出院后病情反复,例2患儿病情未见改善,均放弃治疗而死亡.结论 Leigh综合征发病以神经系统症状较多见,以急性肺出血为突发表现报道较少.及时呼吸机支持能暂时挽救生命,但最终病死率高、预后差.
目的 探討以急性肺齣血為突髮錶現的Leigh綜閤徵的臨床、影像學特點及基因分析.方法 對2例分彆于2012年和2014年入住安徽省兒童醫院的以急性肺齣血為突髮錶現的Leigh綜閤徵患兒(男1例、女1例)臨床特點和影像資料進行總結.2例患兒就診年齡分彆為7箇月和7箇月21 d,入院時均呈突髮呼吸異常、肺齣血而需緊急氣管插管機械通氣.例1既往4箇月大時有類似髮作病史,髮作間歇期精神運動髮育均正常,無神經繫統異常錶現.例2在5箇月時曾因生長髮育遲緩就診,頭顱MRI檢查未見異常,但噹時未行瀰散加權成像(DWI)掃描.2例患兒均抽取靜脈血送廣州金域醫學檢驗中心分子遺傳室進行基因分析,通過提取外週血DNA,進行PCR擴增併測序,與參攷序列(NC_012920.1)進行比較,從而髮現可能存在的基因突變.結果 (1)例1入院檢查血乳痠1.58 mmol/L,丙酮痠0.25 mmol/L,腦脊液乳痠6.4 mmol/L,均明顯增高.例2患兒平時即有運動髮育落後,肌張力低下等神經繫統的髮育異常,入院檢查血乳痠6.8 mmol/L,丙酮痠0.31 mmol/L,腦脊液乳痠8.2 mmol/L.(2)影像檢查:2例患兒胸部X線片均提示肺泡內大量滲齣.例1頭顱MRI:常規序列未見明顯異常信號,DWI序列雙側尾狀覈及豆狀覈高信號.磁共振血流量掃描(MRS)未見乳痠雙峰.例2頭顱MRI檢查提示:兩側大腦半毬、基底節區、大腦腳、小腦及橋腦,胼胝體壓部多髮異常信號,多體素MRS病竈區NAA峰明顯減低,Cho峰明顯升高,可見高聳雙乳痠峰.(3)基因檢測:例1髮現與Leigh綜閤徵相符的緻病ATPase6 m.9185T＞C突變.例2髮現線粒體DNA的一箇“雜閤”突變:m.10191T＞C.2例患兒Leigh綜閤徵診斷明確,給予機械通氣支持呼吸、限製液體減輕肺部滲齣、輔酶Q10、左鏇肉堿等綜閤治療,例1患兒齣院後病情反複,例2患兒病情未見改善,均放棄治療而死亡.結論 Leigh綜閤徵髮病以神經繫統癥狀較多見,以急性肺齣血為突髮錶現報道較少.及時呼吸機支持能暫時輓救生命,但最終病死率高、預後差.
목적 탐토이급성폐출혈위돌발표현적Leigh종합정적림상、영상학특점급기인분석.방법 대2례분별우2012년화2014년입주안휘성인동의원적이급성폐출혈위돌발표현적Leigh종합정환인(남1례、녀1례)림상특점화영상자료진행총결.2례환인취진년령분별위7개월화7개월21 d,입원시균정돌발호흡이상、폐출혈이수긴급기관삽관궤계통기.례1기왕4개월대시유유사발작병사,발작간헐기정신운동발육균정상,무신경계통이상표현.례2재5개월시증인생장발육지완취진,두로MRI검사미견이상,단당시미행미산가권성상(DWI)소묘.2례환인균추취정맥혈송엄주금역의학검험중심분자유전실진행기인분석,통과제취외주혈DNA,진행PCR확증병측서,여삼고서렬(NC_012920.1)진행비교,종이발현가능존재적기인돌변.결과 (1)례1입원검사혈유산1.58 mmol/L,병동산0.25 mmol/L,뇌척액유산6.4 mmol/L,균명현증고.례2환인평시즉유운동발육락후,기장력저하등신경계통적발육이상,입원검사혈유산6.8 mmol/L,병동산0.31 mmol/L,뇌척액유산8.2 mmol/L.(2)영상검사:2례환인흉부X선편균제시폐포내대량삼출.례1두로MRI:상규서렬미견명현이상신호,DWI서렬쌍측미상핵급두상핵고신호.자공진혈류량소묘(MRS)미견유산쌍봉.례2두로MRI검사제시:량측대뇌반구、기저절구、대뇌각、소뇌급교뇌,변지체압부다발이상신호,다체소MRS병조구NAA봉명현감저,Cho봉명현승고,가견고용쌍유산봉.(3)기인검측:례1발현여Leigh종합정상부적치병ATPase6 m.9185T＞C돌변.례2발현선립체DNA적일개“잡합”돌변:m.10191T＞C.2례환인Leigh종합정진단명학,급여궤계통기지지호흡、한제액체감경폐부삼출、보매Q10、좌선육감등종합치료,례1환인출원후병정반복,례2환인병정미견개선,균방기치료이사망.결론 Leigh종합정발병이신경계통증상교다견,이급성폐출혈위돌발표현보도교소.급시호흡궤지지능잠시만구생명,단최종병사솔고、예후차.
Objective To analyze clinical and imaging features and genetic characteristics of Leigh syndrome with emergent pulmonary edema.Method The clinical features and imaging data of 2 cases (1 male,1 female) seen in Anhui Provincial Children's Hospital from 2012 to 2014 were analyzed and summarized.Venous blood samples were sent to Guangzhou Jinyu Medical Examination Center for genetic analysis.Peripheral blood DNA was extracted and amplified,then sent to a sequencing facility for presence of genetic mutation by comparing with the reference sequence (NC_012920.1).Result (1) The first patient was a 7 months old boy.The second patient was a 7 months and 21 days old girl.They were presented with abnormal respiration and pulmonary hemorrhage required mechanical ventilation.The first patient had a similar attack after 4 months of his birth,whose psychomotor development was normal,and no abnormal neurological findings.The value of blood lactate was 1.58 mmol/L.The value of pyruvic acid was 0.25 mmol/L.The value of cerebrospinal fluid lactate was 6.4 mmol/L,which was an abnormal increase.The second patient had abnormal nervous system development,which included motor development retardation and hypotonia.The value of blood lactate was 6.8 mmol/L,pyruvic acid was 0.31 mmol/L.Cerebrospinal fluid lactate was 8.2 mmol/L.(2) Imaging data:chest X-ray revealed double lung effusion.Bilateral caudate nucleus and lentiform nucleus had high signal,and bilateral internal capsule forelimbs were affected in DWI sequence of head MRI.Hemispheres,basal ganglia,cerebral peduncle,cerebellum,pons,and splenium of corpus callosum had multiple abnormal signals in head MRI of the second patient.NAA peak showed significantly reduced lesion area in magnetic resonance blood-flow scanning,and Cho peak increased significantly,which were double lactate peak.(3) Genetic testing:ATPase6 m.9185 t ＞ C mutation was found in case 1 that was consistent with Leigh syndrome pathogenesis.Hybrid mutations (m.10191 t ＞ C) in mitochondrial DNA was found in case 2.Two cases with the diagnosis of Leigh syndrome was clear.They were given combined therapy,such as mechanical ventilation,limited fluid to alleviate lung exudation,coenzyme Q10,and L-carnitine.The illness of case 1 relapsed after discharge.But in case 2,there was no improvement.They both died after treatment was given up.Conclusion Neurological symptoms were common in Leigh syndrome,in which acute lung hemorrhage was rarely reported.Timely ventilator support can temporarily save lives,but fatality rate is high and prognosis is poor.
