中国儿童结节性硬化症患者自然病史及临床特征研究  

Natural History and Clinical Features of Children with Tuberous Sclerosis Complex in China

作　　者：马淑芳[1] 张君嗣[2] 张梦娜[1] 庞领玉 王杨阳[1] 郭淑芳[2] 刘梦佳[1] 邹丽萍[1,3] MA Shu-fang ZHANG Jun-si ZHANG Meng-na PANG Ling-yu WANG Yang-yang GUO Shu-fang LIU Meng-jia ZOU Li-ping(Department of Pediatrics Medicine, General Hospital of PLA, Beijing 100853, China Epilepsy Institute, Research Institute of Beijing Brain Graveness Diseases, Beijing 100069, China Medical School of Nankai University, Tianjin 300071 , China)

机构地区：[1]解放军总医院儿童医学中心,北京100853 [2]南开大学医学院,天津300071 [3]北京脑重大疾病研究院癫痫研究所,北京100069

出　　处：《临床误诊误治》2016年第10期16-18,1,共3页Clinical Misdiagnosis & Mistherapy

基　　金：国家重点基础研究发展计划项目(2012CB517903);国家自然科学基金资助项目(81471329);首都市民健康项目培育(Z141100002114001)

摘　　要：目的 分析中国儿童结节性硬化症（tuberous sclerosis complex,TSC）患者的自然病史及临床特征,提高本病诊治水平。方法 回顾性分析2011年9月—2015年1月解放军总医院儿童医学中心收治的191例TSC患儿临床资料,行脑电图、头颅MRI、心脏及肾脏超声等检查,总结分析其临床表现。结果 本组确诊中位年龄为5个月（0.1~77个月）;癫痫发作154例（80.6%）,中位发作频率为4/d,平均应用2种抗癫痫药物;发现颅内病变（皮质结节、室管膜下结节、室管膜下巨细胞星形细胞瘤、脑白质病变）164例（89.6%）;合并孤独症者110例（57.6%）,合并智力和认知功能障碍者135例（70.7%）;发现心脏损害（心脏横纹肌瘤、心室及心房壁异常）52例（28.7%）;发现肾脏损害（肾囊肿/多囊肾、错构瘤、血管平滑肌脂肪瘤）55例（30.6%）;发现皮肤损害（色素脱失斑、皮脂腺瘤、鲨鱼皮样斑、甲周纤维瘤）188例（98.4%）。结论 中国儿童TSC患者大多存在颅内病变,80%左右的患儿可有癫痫发作,常合并孤独症、智力和认知功能障碍,部分患者存在不同程度的心脏和肾脏损害。中国临床试验中心注册编号：Chi CTROOB-15006535，Objective To analyze natural history and clinical features of children with tuberous sclerosis complex （TSC） in China so as to improve levels of its early diagnosis and treatment. Methods Clinical data of 191 children with TSC between September 2011 and January 2015 was retrospectively analyzed. Examinations such as electroencephalogram （EEG） , brain magnetic resonance imaging（MRI） and ultrasound for heart and kidney were performed, and clinical manifestations of all children were summarized. Results Median age of patients confirmed as having TSC was 5 months （0.1-77 months）. A total of 154 patients had epileptic seizures （80.6%） , and median seizure frequency was 4 times per day. Average type of application of antiepileptic drugs was two kinds. Intracalvarium lesions such as substantia corticalis nodus, subventricular zone nodus, subependymal giant cell astrocytoma and leukodystrophy were found in 164 patients （89.6%）. Combination of autistic behavior was found in 110 patients （57.6%）. Combination of intellectual and cognitive dysfunction was found in 135 patients 70.7% 28.7% 30.6% Cardiac lesions such as cardiac rhabdomyoma, abnormal ventricles and atrial walls were found in 52 patients Renal lesions such as renal cyst/polycystic kidney, hamartoma and angioleiomyolipoma were found in 55 patients Skin lesions such as depigmentation maculae, adenoma sebaceum, sharkskin-like maculae and koenendisease were found in 188 patients （98.4%）. Conclusion Chinese children with tuberous sclerosis complex mostly have intracranial lesions, and about 80% patients have epileptic seizures. Average medication type is 2 kinds of antiepileptic drugs. Most patients associate with autism, intellectual and cognitive impairment, and part of patients have different degrees of heart and kidney lesions.

关 键 词：结节性硬化症 儿童 癫痫 孤独性障碍 

分 类 号：R725.9[医药卫生—儿科]