文献简介

出版社:Orphanet Journal of Rare Diseases

作  者:Snežana Minić1*, Dušan Trpinac2 and Miljana Obradović3

编  号:

关键字:Incontinentia pigmenti, IKBKG gene, CNS anomalies, Diagnostic criteria, Systematic review

年  份:2013   点击量:640

文献摘要


 The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993–2012.CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males.The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4–10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria. 
本文旨在介绍中枢神经系统(CNS)异常类型的系统性综述,并考虑在色素失禁症(IP)的标准中包含中枢神经系统异常的可能性。分析从1993-2012年间的1,393IP患者病历。在调查的IP患者中有30.44%的患者被诊断为中枢神经系统异常。每位患者异常的中枢神经系统类型总数为1.62。在本研究中,女性患者异常数量并没有显著高于男性患者。最常见的中枢神经系统的异常类型有抽搐、运动障碍、智力低下、小头畸形。采用脑成像方法发现最常见的已被记载的中枢神经系统病变为脑梗死或坏死,脑萎缩,和胼胝体病变。目前,在86.00%的基因确诊的IP患者上显示出IKBKG4-10号外显子的缺失。中枢神经系统异常的频率,与IP患者视网膜异常频率以及严重程度相似,因此,在IP次要标准列表中赞成他们的观点。