摘要：
Objective To summarize the correlation between clinical manifestations and imaging characteristics of schizencephaly in order to provide a basis for the diagnosis and prognosis.Methods Thirty-five outpatients with schizencephaly diagnosed at Department of Pediatric Neurology of Henan Provincial People's Hospital from January 2009 to May 2015 were retrospectively selected,and they were divided into different groups (patients with unilateral lesions or bilateral lesions) according to their cranial magnetic resonance imaging (MRI) features.The clinical manifestations were compared between different groups.Results Of 35 patients,19 (54.3％) patients were male and 16 (45.7％) patients were female.Twenty-four patients were found with unilateral lesions (68.6％),including 16 cases (66.7％) with hemiparesis and 8 cases(33.3％) with no motor impairment.Mental retardation was observed in 8 patients (33.3％) and 6 patients (25.0％) showed speech impairment.Eleven patients were found the bilateral lesions (31.4％),including 5 patients (45.4％) with tetraparesis,4 patients (36.4％) with hemiparesis,and 2 paticnts (18.2％) with no motor impairment.Mental retardation was observed in 9 patients (81.8％) and 9 patients (81.8％) showed speech impairment.There were significant differences in motor impairment,mental retardation and speech impairment between the unilateral lesion group and bilateral lesion group (Z =-2.40,P =0.002;x2 =7.09,P =0.012;x2 =9.94;P =0.003).Epileptic seizure occurred in 18 patients (51.4％).Binary Logistic regression analysis indicated that cortical dysplasia beyond the cleft and open-lip lesions were the major risk factors for seizures (OR =4.44,2.73;P =0.005,0.029).Imaging characteristics:there were closed-lip lesions in 10 patients (28.6％),open-lip lesions in 21 patients (60.0％) and open/closed-lip lesions in 4 patients (11.4％).Anatomic localization of all clefts was found in the frontal lobes in 19 patients (54.3％),in frontoparietal lobes in 11 patients (31.4％),in parietal lobes in 2 patients (5.7％),and in occipital lobes in 3 patients (8.6％).After 1-6-year follow-up,12 patients treated with antiepileptic drug were seizure-free (all with unilateral lesions),and 6 patients had refractory epilepsy (3 patients with bilateral lesions).Conclusions Schizencephaly is a rare structural disorder of cerebral cortical development.Those with bilateral lesions are usually manifested with severe motor,speech impairment and mental retardation and their prognosis is poor.Schizencephaly patients complicated with cortical dysplasia beyond the cleft or open-lip lesions are more easily attacked by seizures.MRI plays an important role in the diagnosis and prognosis judgment of schizencephaly.%目的 总结脑裂畸形患儿的临床表现与影像学特征之间联系,为本病诊断及预后判断提供参考依据.方法 分析2009年1月至2015年5月在河南省人民医院小儿神经内科门诊就诊的35例脑裂畸形患儿临床资料,根据头颅磁共振成像(MRI)特征进行分组(单、双侧脑裂畸形),比较临床特征.结果 35例脑裂畸形患儿中,男19例(54.3％),女16例(45.7％).单侧脑裂畸形24例(68.6％),其中偏瘫16例(66.7％),无运动障碍8例(33.3％);认知发育缺陷8例(33.3％),语言障碍6例(25.0％).双侧脑裂畸形11例(31.4％),其中四肢瘫5例(45.4％),偏瘫4例(36.4％),无运动障碍2例(18.2％);认知发育缺陷9例(81.8％),语言障碍9例(81.8％).单、双侧脑裂畸形患儿运动发育缺陷程度、认知发育缺陷及语言障碍比较差异均有统计学意义(Z=-2.40,P=0.002;x2=7.09,P=0.012;x2=9.94,P=0.003).癫痫发作18例(51.4％).二元Logistic回归分析显示,伴裂隙以外部位皮质发育不良、开唇型脑裂畸形是癫痫发作的主要危险因素(OR =4.44、2.73,P=0.005、0.029).影像学特征:闭唇型10例(28.6％),开唇型21例(60.0％),混合型4例(11.4％);裂隙位于额部19例(54.3％),额顶部11例(31.4％),顶部2例(5.7％),枕部3例(8.6％).经过1～6年的随访,抗癫痫治疗控制无发作的患儿12例(均为单侧脑裂畸形),耐药性癫痫患儿6例(3例为双侧脑裂畸形).结论 脑裂畸形是一种少见的大脑皮质发育的结构障碍性疾病,双侧脑裂畸形常表现为严重的运动障碍、智力低下伴语言障碍,预后最差.脑裂畸形伴裂隙以外部位皮质发育不良或开唇型脑裂畸形更易导致患儿癫痫发作.头颅MRI在脑裂畸形的诊断和预后判断中有重要作用.
