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    Tuberous sclerosis complex (tsc)

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    • GarryDroldundefined
      GarryDrold
      last edited by admin

      Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. Diagnosis requires imaging of the affected organ. Treatment is symptomatic or, if central nervous system tumors are growing, sirolimus or everolimus . Patients must be monitored regularly to check for complications.
      Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that occurs in 1 of 6000 children; 85% of cases involve mutations in the TSC1 gene (9q34), which controls the production of hamartin, or the TSC2 gene (16p13.3), which controls the production of tuberin. These proteins act as growth suppressors. If either parent has the disorder, children have a 50% risk of having it. However, new mutations account for two thirds of cases.
      Patients with TSC have tumors or abnormalities that manifest at different ages and in multiple organs, including the

      Brain
      Heart
      Eyes
      Kidneys
      Lungs
      Skin

      Central nervous system (CNS) tubers interrupt neural circuits, causing developmental delay and cognitive impairment and may cause seizures, including infantile spasms. Sometimes the tubers grow and obstruct flow of cerebrospinal fluid from the lateral ventricles, causing unilateral hydrocephalus. Sometimes tubers undergo malignant degeneration into gliomas, particularly subependymal giant cell astrocytomas (SEGAs).
      Cardiac myomas may develop prenatally, sometimes causing heart failure in neonates. These myomas tend to disappear over time and usually do not cause symptoms later in childhood or in adulthood.
      Kidney tumors (angiolipomas) may develop in adults, and polycystic kidney disease may develop at any age. Kidney disease may cause hypertension.
      Pulmonary lesions, such as lymphangioleiomyomatosis, may develop, particularly in adolescent girls.

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