Pérez-García Carlos, Martín Yolanda Ruíz, Del Hoyo Alejandra Aguado, Rodríguez Carlos Marín, Domínguez Minia Campos
Department of Radiology, General University Hospital Gregorio Marañón, Madrid.
Department of Pediatric Radiology, Mother and Child Hospital Gregorio Marañón, Madrid, Spain.
Pediatr Rep. 2017 Jun 26;9(2):7211. doi: 10.4081/pr.2017.7211.
We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS. Some of these lesions may be secondary to birth trauma (given the skull defect) whilst others have a watershed location, perhaps as further evidence of vascular disruption and decreased perfusion during critical periods of fetal brain development as the previously proposed pathogenesis of this syndrome.
我们报告了一例早产女新生儿，其患有头皮和颅骨缺损以及足部短指畸形，符合亚当斯 - 奥利弗综合征（AOS）。该患者存在中枢神经系统异常，如脑室周围钙化、胼胝体发育不全以及双侧半球皮质下皮质出血性病变。诊断出患有肌部室间隔缺损和门体分流。据我们所知，这是首例与AOS相关的先天性幕上灰白质交界区病变且无硬脑膜窦血栓形成的报告。其中一些病变可能继发于出生创伤（鉴于颅骨缺损），而其他病变位于分水岭区域，这可能进一步证明在胎儿脑发育关键期血管破坏和灌注减少，这是该综合征先前提出的发病机制。
