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.
