Huang Cheng-Hsien, Peng Steven Shinn-Forng, Weng Wen-Chin, Su Yi-Ning, Lee Wang-Tso
Department of Pediatrics, Taipei City Hospital, Yang Ming Branch, Taipei, Taiwan.
Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan.
J Formos Med Assoc. 2015 Sep;114(9):849-54. doi: 10.1016/j.jfma.2014.02.008. Epub 2014 Apr 1.
BACKGROUND/PURPOSE: To clarify the relationship between neuroimaging findings, neuropsychiatric comorbidities, and epilepsy in patients with tuberous sclerosis complex (TSC) in Taiwan.
Medical records from 32 patients with TSC were retrospectively reviewed, including mutational analysis, neuroimaging findings, electroencephalogram findings, and neuropsychiatric comorbidities.
Of these patients, six (18.75%) were diagnosed to have autism spectrum disorders (ASD), and 10 (31.25%) were diagnosed to have attention-deficit-hyperactivity disorder. In the latter patients, there were no differences in the regional distribution of tuber burden. In addition to a high prevalence of cystic-like tubers, tubers in insular and temporal areas were associated with ASD. Nonsense mutations in the TSC2 gene group had a correlation with autistic behavior. In 26 (81.25%) patients with a history of epilepsy, infantile spasms and partial seizures were the predominant type of epilepsy. Most of them developed seizures prior to age 1 year.
ASD is a common comorbidity in TSC. Cortical tubers in the temporal lobe and insular area were associated with ASD. The presence of cystic-like tubers on magnetic resonance imaging may also offer a structural marker for ASD in TSC.
背景/目的：阐明台湾结节性硬化症（TSC）患者的神经影像学表现、神经精神共病与癫痫之间的关系。
回顾性分析32例TSC患者的病历，包括突变分析、神经影像学表现、脑电图表现及神经精神共病情况。
这些患者中，6例（18.75%）被诊断患有自闭症谱系障碍（ASD），10例（31.25%）被诊断患有注意力缺陷多动障碍。在后一组患者中，结节负荷的区域分布没有差异。除了囊样结节的高患病率外，岛叶和颞叶区域的结节与ASD有关。TSC2基因组中的无义突变与自闭症行为相关。在26例（81.25%）有癫痫病史的患者中，婴儿痉挛和部分性发作是癫痫的主要类型。他们中的大多数在1岁前就出现了癫痫发作。
ASD是TSC中常见的共病。颞叶和岛叶区域的皮质结节与ASD有关。磁共振成像上囊样结节的存在也可能为TSC中的ASD提供一个结构标志物。
