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1、Central Nervous System,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,Pathophysiology,The inheritance is autosomal dominant, while up to 50-
2、70% of cases have 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,Frequency,In the US: The frequency in the United States is 1 case in 5,
3、800-30,000 persons. Internationally: International frequency is the same as US frequency.,4,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,Physical,Major features Facial angiofibromas or forehead pl
4、aque Nontraumatic 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 angiomyolip
5、oma,6,Physical,Minor 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 cysts,7,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
6、痫三联症，还可见全身各器官并发肿瘤。,8,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 indica
7、ted by either 1 major feature or 2 or more minor features.,9,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 echoc
8、ardiography in infants.,10,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 ma
9、y be performed.,11,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,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
10、，或脑白质有特征性、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。,13,18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,结节性硬化（tuberous sclerosis）,15,结节性硬化（tuberous sclerosis）,16,17,18,19,20,胼胝体发育不良,21,agenesis of the corpus callosum,22,agenesis of the corpus callosum,23,24,孕30周，双侧侧脑室后角扩大，胼胝体缺如,24,25,孕30周，双侧侧脑室后角扩大，胼胝体缺如,25,脑裂畸形Schizencephaly,26,脑裂畸形Schizencephaly,27,蛛网膜囊肿（arachnoid cyst）,28,arachnoid cyst,29,STURGE WEBER SYNDROME,30,Thank you！,31,
