摘要： 目的   分析结节性硬化症家系患者的临床与影像学表现，以及基因突变特点，增加对其认识。方法   收集结节性硬化症三家系临床资料并进行回顾分析。应用聚合酶链反应和DNA 直接测序法对家系1 先证者进行TSC2 基因检测及分析，明确其基因突变位点。结果   三家系先证者均以癫发作为首发症状，伴精神发育迟滞、自闭倾向、皮肤白斑脱失。影像学检查显示颅内结节性钙化点。脑电图呈棘慢复合波、尖波。家系1 中三代共5 例患病，男性2 例、女性3 例，均有面部皮脂腺瘤和癫发作症状和体征，符合常染色体显性遗传特点。先证者TSC2 基因分析显示ｃ.1444-2A > C 基因突变。结论   对以癫发作为首发症状，同时伴有精神发育迟滞、自闭倾向，以及皮脂腺瘤或色素脱失斑等皮肤异常表现的婴幼儿，当影像学检查显示颅内结节性钙化点时，高度提示结节性硬化症。通过对TSC1 和TSC2基因分析可明确其基因突变位点，有助于对患病家系成员进行遗传学咨询和产前诊断。

关键词: 结节性硬化症, 基因, 显性, 体层摄影术, X 线计算机, 磁共振成像, 系谱

Abstract: Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444-2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis.

Key words: Tuberous sclerosis, Genes, dominant, Tomography, X-ray computed, Magnetic resonance imaging, Pedigree