结节性硬化症汇总.

主要症状(11)：
次要症状(9)：
➢ 面部纤维瘤
➢ 多发肾囊肿
➢ 甲或甲周纤维瘤
➢ 非肾性错构瘤
➢ 色素减退斑（3或3处以上） ➢ 错构瘤样直肠息肉
➢ 鲨革样斑
➢ 视网膜色素缺失斑
➢ 大脑皮层结节
➢ 脑白质放射状迁移束
➢ 室管膜下结节
➢ 骨囊肿
➢ 室管膜下星形细胞瘤
➢ 齿龈纤维瘤
➢ 视网膜错构瘤
➢ 皮肤咖啡斑
Genetic diagnostic criteria
➢ The identification of either a TSC1 or TSC2 pathogenic mutation in DNA from normal tissue is sufficient to make a definite diagnosis of tuberous sclerosis complex (TSC)regardless of the clinical findings .
➢ 1/6,000-10,000 live births
population prevalence of 1/ 20,000
➢ highly variable in clinical presentation and
findings
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Disease manifestations continue to develop over the lifetime of an affected individual.
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Diagnosis Tuberous Sclerosis Complex-TSC
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Tuberous Sclerosis Complex-TSC
➢ autosomal dominant
➢ neurocutaneous disorder
➢ mutations in eitherTSC1 or TSC2 (75–85%)
➢ Skin- adenoma sebaceum（皮脂腺瘤）、 angiofibroma
➢ Kidneys- angiomyolipomas (AMLs), renal cysts, renal cell carcinoma, and oncocytomas （嗜酸粒细胞腺瘤）
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➢ 心脏横纹肌肉瘤
➢ 牙釉质多发凹陷
➢ 淋巴管平滑肌瘤病
➢ 肾血管平滑肌脂肪瘤
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Байду номын сангаас
诊断
➢ 确诊：两个主要症状 一个主要+两个次要
➢ 可能：一个主要+一个次要 ➢ 可疑：一个主要
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➢ A pathogenic mutation is defined as a mutation that clearly inactivates the function of the TSC1 or TSC2 proteins ,or prevents protein synthesis or is a missense mutation whose effect on protein function has been established by functional assessment.
Imaging Diagnosis
Case Report
Yaling Wang Department of Radiology Southeast University affiliated Zhongda Hospital
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clinical：
女性 ，49岁 epilepsy-癫痫 cognitive impairment –智力低下 fibroma of the toe-脚趾纤维瘤 depigmented spot of the wrist-脱色斑
About 85% of children and adolescents with TSC have CNS complications.
➢ epilepsy ➢ cognitive impairment ➢ challenging behavioral problems
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➢ Brain- subependymal nodules and astrocytomas （室管膜下结节或星形细胞瘤）
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breast
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head
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lung
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rib 、spine
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live
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kidney
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retroperitoneum
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pelvic cavity
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uterus
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➢ breast mass-benign lesion ➢ cerebral hemorrhage（subependyma calcified
nodule 室管膜下钙化结节） ➢ sclerosis of the bone 骨质硬化 ➢ lung- lymphangiomyomatosis 淋巴管肌瘤病 ➢ liver lipoma ➢ right kidney hamartoma；left nephrectomy ➢ pelvic mass- mucinous adenoma ovari ➢ rectal polypus - enteroscope
两个或两个以上次要
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Updated diagnostic criteria for tuberous sclerosis complex 2012
genetic diagnostic criteria clinical diagnostic criteria
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➢ Eyes- retina hamartoma（视网膜错构瘤） ➢ Heart- rhabdomyoma（横纹肌肉瘤） ➢ Lungs- lymphangiomyomatosis（淋巴管平滑
肌瘤病） ➢ Liver-lipoma、AML ➢ other organs
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1998 TSC临床诊断标准