Puertas-Bordallo D, Lozano-Vázquez M, de Domingo-Barón B, Ruiz-Falcó Rojas M L, González-Gutiérrez-Solana L, Fernández-Fernández J
Sección de Oftalmología/Estrabología del Hospital Infantil Universitario Niño Jesús de Madrid, España.
Arch Soc Esp Oftalmol. 2007 May;82(5):311-4. doi: 10.4321/s0365-66912007000500012.
We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes.
Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome.
我们报告一例81日龄女婴,因癫痫发作被送至急诊科。孕20周时诊断为胼胝体发育不全,后经磁共振成像证实。眼底眼科检查显示双眼视乳头周围脉络膜视网膜病变(腔隙性脉络膜视网膜病变)。
脉络膜视网膜腔隙和视网膜色素上皮异常是该综合征诊断的基础。