中枢结节硬化.pptVIP

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). 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). 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. 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. 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 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 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。 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. Imaging Studies Evaluation of newly diagnosed patients should include a personal and family history and a clinical exami