Del Campo Miguel, Feitosa Ian M L, Ribeiro Erlane M, Horovitz Dafne D G, Pessoa André L S, França Giovanny V A, García-Alix Alfredo, Doriqui Maria J R, Wanderley Hector Y C, Sanseverino Maria V T, Neri João I C F, Pina-Neto João M, Santos Emerson S, Verçosa Islane, Cernach Mirlene C S P, Medeiros Paula F V, Kerbage Saile C, Silva André A, van der Linden Vanessa, Martelli Celina M T, Cordeiro Marli T, Dhalia Rafael, Vianna Fernanda S L, Victora Cesar G, Cavalcanti Denise P, Schuler-Faccini Lavinia
Division of Dysmorphology and Teratology, Department of Pediatrics, UCSD, San Diego, California.
Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170.
In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF. A recognizable phenotype of microcephaly, anomalies of the shape of skull and redundancy of the scalp consistent with the Fetal Brain Disruption Sequence (FBDS) was present in 70% of infants, but was most often subtle. In addition, features consistent with fetal immobility, ranging from dimples (30.1%), distal hand/finger contractures (20.5%), and feet malpositions (15.7%), to generalized arthrogryposis (9.6%), were present in these infants. Some cases had milder microcephaly or even a normal head circumference (HC), and other less distinctive findings. The detailed observation of the dysmorphic and neurologic features in these infants provides insight into the mechanisms and timings of the brain disruption and the sequence of developmental anomalies that may occur after prenatal infection by the ZIKV.
2015年10月，寨卡病毒（ZIKV）疫情爆发于巴西卫生部。作为回应，巴西医学遗传学学会成立了一个特别工作组（SBGM-ZETF），以研究因寨卡病毒先天性感染而患有小头畸形的婴儿的表型，并描绘这种新发现的致畸原的表型谱。这项研究基于对2015年7月至2016年3月期间出生并由SBGM-ZETF登记的83名婴儿的临床评估和神经影像学检查。所有83名婴儿在神经影像学检查中均有与寨卡病毒先天性感染相符的显著发现，其中12名婴儿脑脊液中寨卡病毒IgM检测呈阳性。70%的婴儿存在一种可识别的小头畸形表型、颅骨形状异常和头皮冗余，与胎儿脑破坏序列（FBDS）相符，但通常较为细微。此外，这些婴儿还存在与胎儿活动受限相关的特征，从酒窝（30.1%）、手部/手指远端挛缩（20.5%）和足部位置异常（15.7%）到全身关节挛缩（9.6%）不等。一些病例小头畸形较轻，甚至头围（HC）正常，还有其他不太明显的发现。对这些婴儿畸形和神经学特征的详细观察，有助于深入了解脑破坏的机制和时间，以及寨卡病毒产前感染后可能出现的发育异常序列。
