先天性双侧外侧裂综合征(附4例报告)

先天性双侧外侧裂综合征是一种少见的以假性球麻痹、癫痫、智力低下和双侧外侧裂区皮质发育异常为特征的神经发育障碍。本文4例根据临床表现和影像学检查诊断为该综合征的患者,其中男3人,女1人,年龄范围12～26岁。4例患者均因癫痫发作就诊,影像学检查均显示双侧外侧裂皮质发育异常。临床表现为轻至中度的智力障碍、言语发育迟缓、构音障碍,咽反射消失和轻度锥体束征等。对于临床上表现为癫痫、假性球麻痹、智力低下、影像学提示双侧外侧裂萎缩的患者应想到先天性双侧外侧裂综合征的可能性。

Congenital Bilateral Perisylvian Syndrome (with 4 cases report)

Congenital bilateral perisylvian syndrome(CBPS)is a rare neurological disorder characterized by pseudobulbar palsy,cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies.We reported four patients(three males)aged from 12 to 26 years old diagnosed with CBPS according to typical clinical and magnetic resonance imaging(MRI)features.All four patients with epilepsy showed bilateral cortical abnormality in the perisylvian region.Mild-to-moderate mental retardation,delayed language milestone,dysarthria,disappearance of gag reflex,mild pyramidal signs and so on were also found in different patients.In patients with epilepsy,pseudobulbar palsy,mental retardation and bilateral cortical abnormality in the perisylvian region,the possibility of CBPS should be considered.