van der Linden Vanessa, Filho Epitacio Leite Rolim, Lins Otavio Gomes, van der Linden Ana, Aragão Maria de Fátima Viana Vasco, Brainer-Lima Alessandra Mertens, Cruz Danielle Di Cavalcanti Sousa, Rocha Maria Angela Wanderley, Sobral da Silva Paula Fabiana, Carvalho Maria Durce Costa Gomes, do Amaral Fernando José, Gomes Joelma Arruda, Ribeiro de Medeiros Igor Colaço, Ventura Camila V, Ramos Regina Coeli
Association for Assistance of Disabled Children, AACD, Recife, Brazil Barão de Lucena Hospital, HBL, Recife, Brazil
Association for Assistance of Disabled Children, AACD, Recife, Brazil Federal University of Pernambuco, UFPE, Recife, Brazil.
BMJ. 2016 Aug 9;354:i3899. doi: 10.1136/bmj.i3899.
To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus.
Retrospective case series study.
Association for Assistance of Disabled Children, Pernambuco state, Brazil.
Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic.
Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities.
The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots.
Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis. The arthrogryposis was unrelated to the abnormalities of the joints themselves, but was possibly of neurogenic origin, with chronic involvement of central and peripheral motor neurones leading to deformities as a result of fixed postures in utero. Based on the neurophysiological observations, we suggest two possible mechanisms: tropism of neurones, with involvement of peripheral and central motor neurones, or a relation with vascular disorders.
描述一系列患有关节挛缩（先天性多发性关节挛缩症）且伴有推测由寨卡病毒引起的先天性感染的儿童的临床、放射学和肌电图特征。
回顾性病例系列研究。
巴西伯南布哥州残疾儿童援助协会。
在巴西小头畸形流行期间，7名患有先天性多发性关节挛缩症且诊断为推测由寨卡病毒引起的先天性感染的儿童。
主要的临床、放射学和肌电图检查结果，以及临床与原发性神经异常之间可能的相关性。
所有7名儿童的脑部影像均具有先天性感染和先天性多发性关节挛缩症的特征。2名儿童脑脊液中寨卡病毒IgM检测呈阳性。6名儿童（86%）的手臂和腿部出现先天性多发性关节挛缩症，1名儿童（14%）仅腿部出现。髋部X线片显示7名儿童双侧脱位，3名儿童（43%）膝关节半脱位伴膝外翻，其中2名（29%）为双侧。所有儿童均接受了关节的高分辨率超声检查，未发现异常迹象。针电极肌电图（单极）显示运动单位有中度重塑迹象且募集模式减少。5名儿童接受了脑部计算机断层扫描（CT）和磁共振成像（MRI），其余2名仅接受了CT检查。所有儿童均表现出皮质发育畸形、主要在皮质和皮质下白质（尤其是皮质与白质交界处）的钙化、脑容量减少、脑室扩大以及脑干和小脑发育不全。4名儿童的脊柱MRI显示脊髓明显变细且腹侧神经根减少。
先天性寨卡综合征应纳入先天性感染和先天性多发性关节挛缩症的鉴别诊断。先天性多发性关节挛缩症与关节本身的异常无关，但可能源于神经源性，由于子宫内固定姿势导致中枢和外周运动神经元长期受累而导致畸形。基于神经生理学观察结果，我们提出两种可能的机制：神经元嗜性，涉及外周和中枢运动神经元，或与血管疾病有关。
