Pediatric Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Neurogenetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
J Neurol. 2019 May;266(5):1167-1181. doi: 10.1007/s00415-019-09247-7. Epub 2019 Feb 22.
To describe the neurological phenotype of children with prenatal diagnosis of agenesis of corpus callosum (ACC) and interhemispheric cysts associated with malformations of cortical development (MCD).
We reviewed the neuroimaging, neurologic, EEG, and genetic data of 36 patients (21 males, mean age 7 years) with ACC and interhemispheric cysts. Associations were tested with Chi-squared and Fisher exact tests.
According to the 2001 Barkovich classification, we found 4 type 1c (11.1%), 6 type 2a (16.6%), 18 type 2b (50%, 6/18 girls with Aicardi syndrome), and 9 type 2c cysts (22.2%). EEG showed specific epileptic activity in 27/36 patients (75%). Epilepsy was diagnosed in 16 subjects (16/36, 44.4%), including all Aicardi patients, and was associated with cognitive impairment (p = 0.032). Severe intellectual disability and epilepsy were associated with type 2b cysts, always due to Aicardi patients (p < 0.05). After excluding Aicardi patients, all subjects with type 2b cysts had mild neurological phenotype. Patients with 2a and 2c cysts more frequently had normal cognition (83.3% and 62.5% of cases, respectively). Patients with type 1c cyst mostly had mild/moderate cognitive impairment. Severe neurologic deficits were associated with 1c cysts and 2b cysts with Aicardi syndrome (p < 0.05). Multilobar and/or bilateral MCD were associated with severe neurological and epileptic phenotypes (p < 0.05).
Once excluded Aicardi syndrome, most patients with ACC and interhemispheric cysts have a mild clinical phenotype characterized by borderline/normal cognition and minor neurological signs. Despite the high prevalence of EEG epileptic abnormalities, epilepsy in these cases is infrequent and usually responsive to antiepileptic drugs.
描述产前诊断为胼胝体发育不全（ACC）伴半球间囊肿及皮质发育畸形（MCD）患儿的神经表型。
我们回顾了 36 名（21 名男性，平均年龄 7 岁）ACC 伴半球间囊肿患儿的神经影像学、神经学、脑电图和遗传学数据。采用卡方检验和 Fisher 确切概率法进行相关性检验。
根据 2001 年 Barkovich 分类，我们发现 4 例 1c 型（11.1%）、6 例 2a 型（16.6%）、18 例 2b 型（50%，其中 6 例为 Aicardi 综合征女孩）和 9 例 2c 型囊肿（22.2%）。27/36 例（75%）患儿脑电图显示出特异性癫痫活动。16 例患儿（16/36，44.4%）诊断为癫痫，其中包括所有 Aicardi 患儿，癫痫与认知障碍相关（p=0.032）。严重智力障碍和癫痫与 2b 型囊肿相关，且均与 Aicardi 患儿相关（p<0.05）。排除 Aicardi 患儿后，所有 2b 型囊肿患儿均表现为轻度神经表型。2a 型和 2c 型囊肿患儿的认知功能更常正常（分别为 83.3%和 62.5%）。1c 型囊肿患儿多为轻度/中度认知障碍。严重神经功能缺损与 1c 型囊肿相关，而 2b 型囊肿伴 Aicardi 综合征与严重神经功能缺损相关（p<0.05）。多脑叶和/或双侧 MCD 与严重神经和癫痫表型相关（p<0.05）。
排除 Aicardi 综合征后，大多数 ACC 伴半球间囊肿患儿表现为轻度临床表型，以边缘/正常认知和轻微神经体征为特征。尽管脑电图癫痫异常的发生率较高，但这些病例的癫痫发作并不常见，且通常对抗癫痫药物有反应。
