School of Medicine, University of Belgrade, and Dermatovenerology Clinic, Clinical Center of Serbia, Belgrade, Serbia.
Orphanet J Rare Dis. 2013 Feb 13;8:25. doi: 10.1186/1750-1172-8-25.
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.
本研究旨在对中枢神经系统（CNS）类型的异常进行系统综述，并探讨将 CNS 异常纳入色素失禁症（IP）标准的可能性。分析的文献数据来自 1993 年至 2012 年期间的 1393 例 IP 病例。在调查的 IP 患者中，30.44%被诊断为 CNS 异常。每位患者 CNS 异常的总类型数为 1.62。在本研究中，女性患者的异常数量并不明显多于男性。最常见的 CNS 异常类型是癫痫发作、运动障碍、智力迟钝和小头畸形。使用脑成像方法发现的最常见 CNS 病变是脑梗死或坏死、脑萎缩和胼胝体病变。在基因确诊的 IP 患者中，IKBKG 外显子 4-10 缺失的发生率为 86.00%。与严重程度相似的 CNS 异常的频率，支持将其识别为 IP 次要标准列表中的一项。
