Aicardi综合征是一种X连锁显性遗传病,几乎只存在于女性中。为了诊断Aicardi综合征,call体发育不全的经典三合会,婴儿痉挛,脉络膜视网膜腔隙必须存在.这里,我们描述了一例妊娠36周时分娩的女性新生婴儿,手臂和腿部僵硬,到达急诊科;因此,进行了脑电图检查,显示广义的polypots确认婴儿痉挛。此外,进行了磁共振,显示call体完全发育不全。然后患者被转移进行检眼镜检查,这证明了与脉络膜视网膜腔隙相对应的多个色素减退的脉络膜视网膜病变。根据临床和放射学发现,确定了Aicardi综合征的诊断,开始抗惊厥治疗和物理治疗。该病例报告强调了临床医生怀疑这种罕见遗传病应考虑的主要特征,强调影像学和脑电图检查结果。
Aicardi syndrome is an X-linked-dominant genetic condition that is present almost exclusively in females. To diagnose Aicardi syndrome, the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae must be present. Here, we described a case of a female newborn baby delivered at 36 weeks of gestation that arrived at the emergency department with stiffening of arms and legs; therefore, an electroencephalogram was performed, showing generalized polypots confirming infantile spasms. Moreover, magnetic resonance was performed, showing complete agenesis of the corpus callosum. The patient was then transferred for an ophthalmoscopic examination, which evidenced multiple hypopigmented chorioretinal lesions corresponding to chorioretinal lacunae. Based on the clinical and radiological findings, the diagnosis of Aicardi syndrome was established, and treatment with anticonvulsive therapy and physiotherapy was initiated. This case report highlights the main characteristics that clinicians should consider to suspect this rare genetic condition, emphasizing the imaging and electroencephalographic findings.