1、中枢结节硬化中枢结节硬化Tuberous Sclerosis Tuberous sclerosis is a genetic disorder affecting cellular differentiation and proliferation,which results in hamartoma formation in many organs(eg,skin,brain,eye,kidney,heart).2中枢结节硬化Pathophysiology The inheritance is autosomal dominant,while up to 50-70%of cases hav
2、e been attributed to new mutations.Two genetic loci have been identified so far.The first gene maps to chromosome 9,specifically 9q34(TSC1);the second gene maps to chromosome 16,specifically 16p13(TSC2).3中枢结节硬化Frequency In the US:The frequency in the United States is 1 case in 5,800-30,000 persons.I
3、nternationally:International frequency is the same as US frequency.4中枢结节硬化 Race:No racial predilection has been noted.Sex:No sex predilection has been noted.Age:Most patients are diagnosed between ages 2 and 6 years.5中枢结节硬化Physical Major features Facial angiofibromas or forehead plaque Nontraumatic
4、ungual or periungual fibromas Hypomelanotic macules(3)Shagreen patch(connective tissue nevus)Multiple retinal nodular hamartomas Cortical tuber Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma,single or multiple Lymphangiomyomatosis Renal angiomyolipoma6中枢结节硬化Physical Mino
5、r features Multiple randomly distributed pits in dental enamel Hamartomatous rectal polyps Bone cysts Cerebral white matter radial migration lines Gingival fibromas Nonrenal hamartoma Retinal achromic patch Confetti skin lesions Multiple renal cysts7中枢结节硬化临床表现 结节性硬化的临床表现主要为皮脂腺瘤、智力迟钝和癫痫三联症，还可见全身各器官并发
6、肿瘤。8中枢结节硬化Diagnosis Definite tuberous sclerosis complex is diagnosed by the presence of either 2 major features or 1 major feature plus 2 minor features.Probable tuberous sclerosis complex is indicated by 1 major feature plus 1 minor feature.Possible tuberous sclerosis complex is indicated by either
7、 1 major feature or 2 or more minor features.9中枢结节硬化Imaging Studies Evaluation of newly diagnosed patients should include a personal and family history and a clinical examination,including funduscopy眼底镜检查,cranial imaging(eg,MRI,nonenhanced CT scanning),renal ultrasonography,and echocardiography in i
8、nfants.10中枢结节硬化 Cranial CT scanning is more likely to detect lesions of tuberous sclerosis as a screening tool;MRI often detects lesions that are not as specific to TSC.MRI is the first choice;however,if the scan results are negative and the diagnosis is uncertain,then CT scanning may be performed.1
9、1中枢结节硬化CT of the head CT平扫显示脑皮层结节大小不等，多为两侧对称分布的低密度，增强扫描不强化，而室管膜下结节易发生钙化。室管膜下巨细胞型星形细胞瘤一般为等密度，内部可见低密度坏死囊变部分、及高密度钙化灶，增强后呈中等度强化。12中枢结节硬化MRI 皮层结节在T1WI多呈等信号，少数为低信号，T2WI为高信号，一般不强化。病变区脑皮层扩大，脑回增宽。室管膜下结节以T1WI显示较好，其钙化部分呈低信号，非钙化部分呈中等信号；T2WI除钙化部分为低信号外，均呈高信号，结节的非钙化部分可强化。MRI能显示脑白质内的异位细胞簇，表现为T2WI脑白质内有异常高信号，或脑白质有特征性
10、、放射状排列的高信号带。室管膜下巨细胞型星形细胞瘤除钙化部分为低信号外，在T1WI上呈等信号或低信号，T2WI呈明显高信号，同时能显示肿瘤周围水肿。13中枢结节硬化18月龄，男，站立不稳，搀扶下行走交叉步态CT示室管膜多发点状钙化14中枢结节硬化结节性硬化（tuberous sclerosis）15中枢结节硬化结节性硬化（tuberous sclerosis）16中枢结节硬化18中枢结节硬化19中枢结节硬化20中枢结节硬化胼胝体发育不良21中枢结节硬化agenesis of the corpus callosum 22中枢结节硬化agenesis of the corpus callosum 23中枢结节硬化24孕30周，双侧侧脑室后角扩大，胼胝体缺如24中枢结节硬化25孕30周，双侧侧脑室后角扩大，胼胝体缺如25中枢结节硬化脑裂畸形脑裂畸形Schizencephaly26中枢结节硬化脑裂畸形脑裂畸形Schizencephaly27中枢结节硬化蛛网膜囊肿（arachnoid cyst）28中枢结节硬化arachnoid cyst29中枢结节硬化STURGE WEBER SYNDROME30中枢结节硬化Thank you！31中枢结节硬化
