中枢结节硬化课件

Central Nervous System 南京医科大学一附院放射科 洪汛宁 1 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 50-70% 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 5,800- 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 plaque 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 angiomyolipoma 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 indicated 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 echocardiography 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 may 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，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