CAJ | 학술논문

目的：对婴儿期起病的一组具有共同特征的不明原因白质脑病的患儿进行临床表型分析,以期使临床儿科医师了解此类遗传性白质脑病的临床特征,并为发现新的遗传性白质脑病的致病基因提供线索。方法收集2006年1月至2014年12月北京大学第一医院小儿神经科婴儿期起病的不明原因白质脑病患儿13例的临床资料,分析其临床症状和头颅磁共振成像( MRI)特点及演变特征。结果1.一般资料：男7例,女6例；起病年龄平均11个月(4~25个月)；38%(5/13例)起病前存在诱因；均急性起病,起病后1个月内达高峰；100%(13/13例)表现为运动功能快速倒退；15%(2/13例)病程中伴惊厥；起病1个月后病情平稳进入稳定期,认知及运动部分恢复,至末次随访无死亡病例。2.影像学表现：头颅MRI特征主要累及深部白质：均为脑室周围长T1、长T2、液体衰减反转恢复序列( FLAIR)高信号,病灶呈团块状对称分布,病灶内信号不均匀,均伴囊性改变；弥散加权像(DWI)部分病灶呈片状、团块状高信号。随访MRI：88%(8/9例)原病灶缩小,55%(5/9例)白质萎缩,囊变仍存在或囊变扩大,88%(8/9例)DWI部分病灶呈点状或线状高信号,范围较前明显缩小,分布于原病灶周边。结论本组病因不明的白质脑病患儿以线粒体白质脑病的可能性大,本研究为探索白质脑病可能的新的致病病因提供了依据。
목적：대영인기기병적일조구유공동특정적불명원인백질뇌병적환인진행림상표형분석,이기사림상인과의사료해차류유전성백질뇌병적림상특정,병위발현신적유전성백질뇌병적치병기인제공선색。방법수집2006년1월지2014년12월북경대학제일의원소인신경과영인기기병적불명원인백질뇌병환인13례적림상자료,분석기림상증상화두로자공진성상( MRI)특점급연변특정。결과1.일반자료：남7례,녀6례；기병년령평균11개월(4~25개월)；38%(5/13례)기병전존재유인；균급성기병,기병후1개월내체고봉；100%(13/13례)표현위운동공능쾌속도퇴；15%(2/13례)병정중반량궐；기병1개월후병정평은진입은정기,인지급운동부분회복,지말차수방무사망병례。2.영상학표현：두로MRI특정주요루급심부백질：균위뇌실주위장T1、장T2、액체쇠감반전회복서렬( FLAIR)고신호,병조정단괴상대칭분포,병조내신호불균균,균반낭성개변；미산가권상(DWI)부분병조정편상、단괴상고신호。수방MRI：88%(8/9례)원병조축소,55%(5/9례)백질위축,낭변잉존재혹낭변확대,88%(8/9례)DWI부분병조정점상혹선상고신호,범위교전명현축소,분포우원병조주변。결론본조병인불명적백질뇌병환인이선립체백질뇌병적가능성대,본연구위탐색백질뇌병가능적신적치병병인제공료의거。
Objective To summarize the phenotypic features of an unrecognized leukoencephalopathy in infants sharing same clinical features,and to better understand the disease and provide new evidence for identification of new leukoencephalopathy. Methods Clinical and follow-up data of 13 patients with unrecognized infantile leukoen-cephalopathy were collected from Peking University First Hospital from January, 2006 to December, 2014. Results (1) There were 7 male and 6 female. The average age of onset was 11 months (4-25 months). Thirty-eight percent (5/13 cases) of patients had incentives before the onset;all of the cases had acute onset and rapid motor function regression. Fifteen percent (2/13 cases) of the patients suffered from seizures in the course of the disease. Patients′condition became stable,and cognition and motor function improved gradually 1 month after onset. No patient died till the last follow-up. (2) Imaging features:magnetic resonance imaging (MRI) of the patients was characterized by im-plicating deep white matter,presenting T1 hypointense,T2 and fluid attenuated inversion recovery ( FLAIR) hyperin-tense in the periventricular area. All of MRI showed massive and symmetric lesions with heterogeneous signal and cystic degeneration. DWI showed patch or massive hyperintense in some of the lesions. The follow-up MRI showed the original lesions decreased in 88% ( 8/9 cases ) of patients, and white matters atrophied in 55% ( 5/9 cases ) of patients;the cystic degeneration still existed and even expanded;DWI showed regional linear or spot hyperintense in 88% (8/9 cases) of patients,which was smaller than before,and distributed around the original lesions. Conclusions The patients with leukoencephalopathy caused by unknown pathogenic gene were much likely to be mitochondrial leukoencephalopathy. This study provided evidence for further exploration of new pathogenic genes causing leu-koence-phalopathy.