Universidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós-graduação em Medicina em Ciências Médicas, Porto Alegre, RS, Brazil.
Universidade do Vale do Taquari (UNIVATES), Faculdade de Medicina, Lajeado, RS, Brazil; Sistema Nacional de Informação sobre Agentes Teratogênicos (SIAT), Porto Alegre, RS, Brazil.
J Pediatr (Rio J). 2019 Sep-Oct;95(5):600-606. doi: 10.1016/j.jped.2018.05.013. Epub 2018 Jul 4.
The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infection was at its peak in northeast Brazil.
This was a cross-sectional study where all notifications of congenital microcephaly in the state of Rio Grande do Sul were included for analysis. Evaluation of cases followed the guidelines of the Brazilian Ministry of Health. Dysmorphological and neurological evaluations were performed by a specialized team, and genetic tests and neuroimaging were performed when clinically indicated. STORCH infections were diagnosed using standard tests. ZIKV infection was diagnosed through maternal serum RT-PCR and/or neuroimaging associated with clinical/epidemiological criteria.
From 153744 registered live births in the study period, 148 cases were notified, but 90 (60.8%) of those were later excluded as "non-confirmed" microcephaly. In the 58 confirmed cases of microcephaly (prevalence = 3.8/10000 live births), congenital infections (syphilis, toxoplasmosis, cytomegalovirus, and ZIKV) constituted the predominant etiology (50.0%), followed by isolated CNS (15.5%), and genetic syndromes (10.3%). Congenital ZIKV syndrome (CZS) with typical phenotype was diagnosed in three cases (5.2% of all confirmed microcephaly cases or 10.4% of all congenital infections).
In Rio Grande do Sul, where no outbreak of ZIKV infection was recorded, congenital infections were the leading cause of congenital microcephaly, and the attributable risk for CZS in the etiology of microcephaly was 5.2%.
本研究旨在确定 2015 年 12 月至 2016 年 12 月期间，巴西南部南里奥格兰德州先天性小头畸形的病因，当时寨卡病毒（ZIKV）在巴西东北部的感染达到高峰，但该州未发现寨卡病毒爆发。
这是一项横断面研究，分析了南里奥格兰德州所有先天性小头畸形的报告病例。病例评估遵循巴西卫生部的指导方针。由专门小组进行形态学和神经学评估，在临床指征时进行遗传测试和神经影像学检查。采用标准检测方法诊断 STORCH 感染。通过母亲血清 RT-PCR 和/或神经影像学结合临床/流行病学标准诊断寨卡病毒感染。
在研究期间登记的 153744 例活产儿中，报告了 148 例病例，但其中 90 例（60.8%）后来被排除为“非确诊”小头畸形。在 58 例确诊的小头畸形病例（患病率=3.8/10000 活产儿）中，先天性感染（梅毒、弓形虫病、巨细胞病毒和寨卡病毒）构成主要病因（50.0%），其次是孤立性中枢神经系统（15.5%）和遗传综合征（10.3%）。诊断出 3 例先天性寨卡病毒综合征（CZS）（所有确诊小头畸形病例的 5.2%或所有先天性感染的 10.4%），表现为典型表型。
在南里奥格兰德州，未记录寨卡病毒感染爆发的情况下，先天性感染是先天性小头畸形的主要病因，CZS 在小头畸形病因中的归因风险为 5.2%。
