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Information Journal Paper

Title

Tuberous sclerosis complex, Clinic and pathology manifestations, Mini-review

Pages

  284-291

Abstract

 Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell astrocytomas (SEGAs). Seizures that occur in 92% of patients with TSC are an important cause of sudden deaths in them. Other organ involvement includes renal angiomyolipomas, lymphangioleiomyomatosis, cardiac rhabdomyomas, and cutaneous manifestations (hypomelanotic macules, angiofibroma, ungual fibromas, shagreen patch, and ‘, confetti’,skin lesions). There is a criterion for Tuberous sclerosis complex that consists of 11 major and 6 minor Clinical features that diagnosis occurs based on it. The best way for a definitive diagnosis of TSC in a patient is by using genetic tests and histoPathology. Immunohistochemistry is a helpful method in confirming the diagnosis of brain tumors in TSC. Immunostaining of SEGA shows positivity for GFAP and S-100 protein while neurofilament and synaptophysin are negative. Ki-67, which indicates nuclear proliferation, has a low proliferation index in immunostain. In an aggressive tumor, hydrocephalus, rising intracranial pressure and focal neurologic deficit, surgery is a necessity and can improve outcomes. Brain and kidney involvement in this disease is life-threatening. Brain involvement in these patients can lead to extensive neuropsychological complications, so the aim of this study is a concise review of the variable manifestations of this disease with a focus on the histopathological findings of brain involvement.

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    • Cite

    APA: Copy

    Darvishi, Behnaz, & RAMEZANI, MAZAHER. (2021). Tuberous sclerosis complex, Clinic and pathology manifestations, Mini-review. BASIC & CLINICAL CANCER RESEARCH, 13(4), 284-291. SID. https://sid.ir/paper/1100895/en

    Vancouver: Copy

    Darvishi Behnaz, RAMEZANI MAZAHER. Tuberous sclerosis complex, Clinic and pathology manifestations, Mini-review. BASIC & CLINICAL CANCER RESEARCH[Internet]. 2021;13(4):284-291. Available from: https://sid.ir/paper/1100895/en

    IEEE: Copy

    Behnaz Darvishi, and MAZAHER RAMEZANI, “Tuberous sclerosis complex, Clinic and pathology manifestations, Mini-review,” BASIC & CLINICAL CANCER RESEARCH, vol. 13, no. 4, pp. 284–291, 2021, [Online]. Available: https://sid.ir/paper/1100895/en

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