摘要
目的探讨神经元移行异常(NMD)的临床特征和诊断依据。方法对37例NMD患儿的临床、影像和实验室资料进行分析,并进行随访。结果37例NMD中无脑回巨脑回21例,主要临床表现为智力低下(20例)、癫(14例)和脑性偏瘫(6例),头围小于正常同龄儿是一重要体征,占80%(17/21);无脑回巨脑回合并其他畸形8例;灰质异位5例,主要表现为癫(4例);脑裂畸形3例,脑性偏瘫为其主要临床特征(2例)。16例脑电图中12例异常,全导阵发不规则尖棘慢波、慢波10例。本组随访18例,癫患儿14例,经抗癫药物治疗后均难以控制发作,运动发育有改善但语言发育障碍4例。结论NMD的临床特征以智力低下、癫及脑性偏瘫为主,头颅MRI是诊断本病的最佳检查方法。
Objective Neuronal migration disorders (NMD) are a group of malformations of the brain which ultimately disrupt migrating neuroblasts from the germinal plate to the cerebral cortex, it consists of agyria-pachygyria, polymicrogyria, schizencephaly, hemimegalencephaly and heterotopia. This study aimed to investigate the clinical characteristics and diagnostic methods of NMD. Methods The clinical data, cranial imaging and experimental examinations of 37 patients with NMD were analyzed. The patients consisted of 21 males and 16 females whose age of first hospital visit ranged from 2 months to 14 years and 6 months. Among the 37 cases, 18 were followed up. Results Of the 37 patients, 21 were agyria-pachygyria, the main clinical manifestations were mental retardation (20 cases), epilepsy (14 cases), hemiparesis (6 cases), and 17 patients had microcephaly which was an important physical sign. Eight patients had agyria-pachygyria with other malformations, they presented mental retardation (6 cases), epilepsy (4 cases), and hemiparesis (2 cases). Of the 5 patients with heterotopia, 4 manifested epilepsy. 3 patients had schizencephaly and 2 presented with hemiparesis. EEG was performed in 16 cases. Generalized irregular sharp and slow wave complexes were present in 10 cases, focal spike and slow complex in one case, hypsarrhythmia in one case, and the normal EEG in 4 cases. Eighteen cases were followed-up from seven months to eight years and three months, 14 patients had epilepsy, and still had epileptic attacks with the treatment with anticonvulsives, motor development was improved but speech development delayed in 4 cases. Conclusion The results of this study suggest that NMD is characterized by mental retardation, epilepsy and hemiparesis. Cranial MRI is the best diagnostic method.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2005年第4期248-251,共4页
Chinese Journal of Pediatrics