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苏丹儿童先天性脑畸形:一项基于门诊的研究。

Congenital brain malformations in Sudanese children: an outpatient-based study.

作者信息

Mohammed Inaam Noureldyme, Suliman Soad Abdalaziz, Elseed Maha A, Hamed Ahlam Abdalrhman, Babiker Mohamed Osman, Taha Shaimaa Osman

机构信息

Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum, Sudan.

Ministry of Health, Khartoum, Sudan.

出版信息

Sudan J Paediatr. 2018;18(1):48-56. doi: 10.24911/SJP.2018.1.7.

Abstract

Congenital brain malformations (CBMs) are a heterogeneous group characterised by abnormal structure of the developing brain. Their aetiology includes in-utero infections, teratogenicity and in a considerable group, genetic causes. Due to the high rate of consanguineous marriages and the possible high prevalence of prenatal infections in Sudan, CBMs are likely to be common. The main aim of this study was to review the clinical profile of children with CBMs attending two main tertiary paediatrics neurology outpatient clinics in Khartoum State, Sudan. Children under the age of 18 years who presented with developmental delay, seizures or abnormal head size were evaluated clinically and with neuroimaging for possible CBMs. Out of 2,114 patients seen within 6 months (September 2016-March 2017) at the Outpatient Departments, 105 patients (5%) were diagnosed with CBMs. Sixty patients (57.1%) had a single brain anomaly, 36 patients (34.1%) had two brain anomalies while nine patients (8.6%) had multiple brain anomalies. Collectively, cortical malformations either isolated or in combination with other anomalies were observed in 37 patients (35.1%), thus by representing the commonest CBMs. Community-based epidemiological studies are needed to ascertain CBMs prevalence, common causes and long-term outcomes.

摘要

先天性脑畸形(CBMs)是一组异质性疾病,其特征为发育中的大脑结构异常。其病因包括宫内感染、致畸性,以及相当一部分由遗传因素导致。由于苏丹近亲结婚率高且产前感染患病率可能较高,CBMs可能很常见。本研究的主要目的是回顾在苏丹喀土穆州两家主要的三级儿科神经科门诊就诊的CBMs患儿的临床特征。对18岁以下出现发育迟缓、癫痫发作或头围异常的儿童进行临床评估和神经影像学检查,以排查是否患有CBMs。在门诊6个月内(2016年9月至2017年3月)就诊的2114例患者中,105例(5%)被诊断为CBMs。60例(57.1%)有单一脑异常,36例(34.1%)有两种脑异常,9例(8.6%)有多种脑异常。总体而言,37例(35.1%)患者观察到孤立或与其他异常合并存在的皮质畸形,因此是最常见的CBMs类型。需要开展基于社区的流行病学研究,以确定CBMs的患病率、常见病因和长期预后。

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