看診日期：週三下午、週五上午。
來賓：台大兒童醫院小兒神經科主治醫師 范璧娟
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by early onset epilepsy, intellectual disability, autism and benign tumors, which can affect virtually any organ in the body such as skin, brain, kidneys, lung, and heart. Disease manifestations in different organ systems can vary widely between even closely related individuals which can make clinical diagnosis and treatment challenging. Dysfunction of the two causative genes, TSC1 and TSC2, which encode hamartin and tuberin respectively leads to hyperactivation of the mTOR and downstream signaling pathways, subsequently resulting in increased cell growth, proliferation, and abnormal gene expression. The treatment for TSC patients used to be symptom-oriented. Preclinical studies revealed the mTOR inhibitor reduces TSC-related tumors, including brain, skin, and kidney tumors, prevents epilepsy, increases survival, and reduces seizure frequency. Clinical studies also show that mTOR inhibitor therapy lead to regression of subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma and pulmonary lymphangioleiomyomatosis as well as reduction of epilepsy. In this presentation, I will review the neurological features of TSC, emphasized on SEGA and epilepsy and how to treat, as well as brief the experiences in our multidisciplinary clinics.
來賓：台大兒童醫院兒童眼科主任 蔡紫薰
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by early onset epilepsy, intellectual disability, autism and benign tumors, which can affect virtually any organ in the body such as skin, brain, kidneys, lung, and heart. Disease manifestations in different organ systems can vary widely between even closely related individuals which can make clinical diagnosis and treatment challenging. Dysfunction of the two causative genes, TSC1 and TSC2, which encode hamartin and tuberin respectively leads to hyperactivation of the mTOR and downstream signaling pathways, subsequently resulting in increased cell growth, proliferation, and abnormal gene expression. The treatment for TSC patients used to be symptom-oriented. Preclinical studies revealed the mTOR inhibitor reduces TSC-related tumors, including brain, skin, and kidney tumors, prevents epilepsy, increases survival, and reduces seizure frequency. Clinical studies also show that mTOR inhibitor therapy lead to regression of subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma and pulmonary lymphangioleiomyomatosis as well as reduction of epilepsy. In this presentation, I will review the neurological features of TSC, emphasized on SEGA and epilepsy and how to treat, as well as brief the experiences in our multidisciplinary clinics.
來賓：台大兒童醫院小兒神經科主治醫師 范璧娟
2012年台灣神經纖維瘤協會年會暨醫療講座於5月5日於台大醫院舉辦。 由協會理事長 李銘仁 醫師主持，並邀請了台大醫院小兒科 范碧娟 醫師及臺北醫學大學 蔡翠敏 教授，為與會的朋友們進行醫療講座。 本篇是 范碧娟 醫師的[小兒神經纖維瘤之診斷與治療]講座。范醫師以其在臨床上豐富的小兒診療經驗，精譬的解說俾使朋友們更進一步瞭解NF的特性。 在此，協會感謝所有的與會的朋友，來賓及講師。協會感謝大家在幕前幕後的協助及支持，謝謝!
來賓：台大兒童醫院小兒神經科主治醫師 范璧娟
2012年台灣神經纖維瘤協會年會暨醫療講座於5月5日於台大醫院舉辦。 由協會理事長 李銘仁 醫師主持，並邀請了台大醫院小兒科 范碧娟 醫師及臺北醫學大學 蔡翠敏 教授，為與會的朋友們進行醫療講座。 本篇是 范碧娟 醫師的[小兒神經纖維瘤之診斷與治療]講座。范醫師以其在臨床上豐富的小兒診療經驗，精譬的解說俾使朋友們更進一步瞭解NF的特性。 在此，協會感謝所有的與會的朋友，來賓及講師。協會感謝大家在幕前幕後的協助及支持，謝謝!
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