Melbourne-Chambers R, Singh Minott I, Mowatt L, Johnson P, Thame M
Department of Obstetrics, Gynaecology, and Child Health, University of the West Indies, Kingston, Jamaica.
Dev Med Child Neurol. 2007 Jun;49(6):464-6. doi: 10.1111/j.1469-8749.2007.00464.x.
Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, 'morning glory' appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.
艾卡迪综合征是一组三联征异常，包括胼胝体完全或部分发育不全、脉络膜视网膜缺损和婴儿痉挛症。该综合征于1965年首次被描述。本报告描述了一名患有艾卡迪综合征并伴有鼻筛部脑膨出的女婴。她自出生以来有单侧鼻分泌物史，自1周龄起有癫痫发作史。她小头畸形且有视力障碍。左侧鼻孔可见一肉质肿物。眼科检查发现左眼外斜视、视神经盘和视网膜发育异常、左眼视神经盘呈“牵牛花”样外观以及双侧脉络膜视网膜缺损。脑部磁共振成像显示胼胝体缺如、侧脑室形态异常、第三脑室位置偏高、额叶异位灰质、左侧鼻筛部脑膨出以及左侧额叶闭合性唇裂脑畸形。这名女婴在8周龄时出现不对称性婴儿痉挛症。脑膨出的手术矫正被拒绝。她因喂养时误吸继发反复肺炎，并在8个月大时因其中一次发作死亡。
