Pinto P S, Ribeiro V, Moreira B
Neuroradiology Department, Centro Hospitalar do Porto; Porto, Portugal -
Neuroradiol J. 2011 Jun 30;24(3):452-5. doi: 10.1177/197140091102400317. Epub 2011 Jun 24.
Congenital cystic eye is an extremely rare congenital anomaly with fewer than 40 cases reported. Although its aetiology remains unknown, it results from partial to complete failure in invagination of the primary optic vesicle. It is usually unilateral and presents as a heterogeneous lesion with a cyst bulging the upper eyelid and a solid component consisting in neuroglial tissue. We describe a rare case of congenital cystic eye with corpus callosum hypoplasia with special focus on the magnetic resonance imaging (MRI) features and their role in the diagnosis. We conclude that MRI is not only useful in the diagnosis and management of this rare entity, but it can also be helpful in diagnosing associated brain abnormalities.
先天性囊性眼是一种极其罕见的先天性异常,报告的病例少于40例。尽管其病因尚不清楚,但它是由原始视泡内陷部分至完全失败所致。它通常是单侧的,表现为一种异质性病变,有一个囊肿使上睑膨出,还有一个由神经胶质组织构成的实性成分。我们描述了一例伴有胼胝体发育不全的先天性囊性眼罕见病例,特别关注磁共振成像(MRI)特征及其在诊断中的作用。我们得出结论,MRI不仅有助于诊断和处理这种罕见疾病,而且对诊断相关的脑部异常也有帮助。