Abstract：
Aicardi syndrome is a very rare neurodevelopmental disorder, inherited as an X-linked dominant condition with a triad of infantile spasm, partial or complete agenesis of the corpus callosum, and chorio-retinal \"lacunae.\" We report a case of a female infant with the classical triad of Aicardi syndrome. A female infant presented to the Paediatric Neurology Clinic of the Federal Medical Centre Birnin-Kebbi, North-western Nigeria, at the age of two months with complaints of recurrent afebrile convulsions typical for infantile spasms. The patient was delivered at term with normal Apgar scores and anthropometry. Examination revealed an infant with no dysmorphic features and normal systemic examination. Magnetic Resonance Imaging (MRI) of the brain however, showed complete agenesis of the corpus callosum and dilatation of the posterior horn of the lateral and third ventricles. Fundoscopy showed multiple yellowish spots along the vascular arcades in the right eye. The left eye had a one-disc diameter lacuna in the superior nasal quadrant adjacent to the optic disc with multiple yellowish spots. A diagnosis of Aicardi syndrome was made. The child was placed on oral phenobarbital and followed up. At the age of 18 months, the child can only sit without support, hold an object in each hand, smile socially, and babble. The frequency of the seizures had also reduced from >100 episodes per day to 2-3 episodes per day, but the child had developed right-sided spastic hemiparesis. The patient was commenced on physiotherapy and the anti-epileptic drugs were maintained. We recommend clinicians consider Aicardi syndrome in the differential diagnosis of any child presenting with infantile spasms.
摘要：
Aicardi综合征是一种非常罕见的神经发育障碍，以X连锁优势状态遗传，伴有婴儿痉挛三联征，call体的部分或完全发育不全，和绒毛膜-视网膜\"空洞。“我们报告了一例女婴患有Aicardi综合征的经典三联征。一名女婴被送到联邦医学中心Birnin-Kebbi的儿科神经病学诊所，尼日利亚西北部,在两个月大的时候，有反复发作的发热性抽搐典型的婴儿痉挛。患者在足月分娩时具有正常的Apgar评分和人体测量学。检查显示婴儿无畸形特征且全身检查正常。然而，大脑的磁共振成像(MRI)显示call体完全发育不全，侧脑室和第三脑室后角扩张。眼底镜检查显示右眼沿血管拱廊有多个淡黄色斑点。左眼在与视盘相邻的上鼻象限中具有一个圆盘直径的腔隙，带有多个黄色斑点。诊断为Aicardi综合征。患儿口服苯巴比妥并随访。在18个月大的时候，孩子只能在没有支撑的情况下坐着，每只手里拿着一个物体，微笑社交，和胡言乱语。癫痫发作的频率也从每天>100次减少到每天2-3次，但是孩子出现了右侧痉挛性偏瘫。患者开始进行物理治疗，并维持抗癫痫药物。我们建议临床医生在任何出现婴儿痉挛的儿童的鉴别诊断中考虑Aicardi综合征。
