中隔-视神经发育不良并发婴儿痉挛和双侧脉络膜裂蛛网膜囊肿。
Septo-optic dysplasia complicated by infantile spasms and bilateral choroidal fissure arachnoid cysts.
机构信息
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children's Hospital Boston, Boston, MA 02115, USA.
出版信息
J Neuroimaging. 2011 Jan;21(1):89-91. doi: 10.1111/j.1552-6569.2009.00453.x.
BACKGROUND AND PURPOSE
septo-optic dysplasia (SOD) is the triad of optic nerve hypoplasia, panhypopituitarism, and agenesis of septum pellucidum, and has been described previously to be associated with heterotopias and midline interhemispheric cyst. We describe a case of SOD with arachnoid cysts, persistent primary hyperplastic vitreous, and malformations of cortical development.
METHODS
case report and review of literature.
RESULTS
our patient was found to have SOD, bilateral ventriculomegaly, pachygyria, gray matter heterotopia, bilateral choroidal cysts near the brainstem, and persistent primary hyperplastic vitreous. She later developed infantile spasms and required enucleation of the abnormal eye and cyst fenestration.
CONCLUSION
coincidence of seizures, SOD, bilateral choroid fissure cysts, heterotopias, and persistent primary hyperplastic vitreous is a unique constellation. It is unclear whether this represents a new syndrome or SOD spectrum variation. Patients with SOD and arachnoid cysts should be monitored for signs of herniation.
背景与目的
视-隔发育不良（SOD）是视神经发育不良、全垂体功能减退和透明隔缺如三联征，先前已有报道称其与异位和中线间脑裂囊肿有关。我们描述了一例伴有蛛网膜囊肿、永存原始玻璃体增生和皮质发育畸形的 SOD 病例。
方法
病例报告和文献复习。
结果
我们的患者被诊断为 SOD，伴有双侧脑室扩大、脑回肥厚、灰质异位、脑干附近双侧脉络膜囊肿和永存原始玻璃体增生。后来，她出现婴儿痉挛症，需要行异常眼的眼球摘除和囊肿开窗术。
结论
癫痫发作、SOD、双侧脉络膜裂囊肿、异位和永存原始玻璃体增生的同时出现是一种独特的组合。目前尚不清楚这是否代表一种新的综合征或 SOD 谱的变异。伴有蛛网膜囊肿的 SOD 患者应密切监测有无脑疝的迹象。
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