Tuberous sclerosis complex (TSC) is the second most common primary neurocutaneous syndrome. TSC is an autosomal dominant genetic condition due to mutations in the TSC1 or TSC2 gene. TSC is fully penetrant with intra- and inter-familial variable expressivity. Approximately two-thirds of TSC cases have de novo mutations. TSC is a progressive condition with seizures/infantile spasms, autism with developmental delay, and classic cutaneous manifestations. Complications include tumors of the kidneys, heart, and lungs. Psychiatric symptoms can also be a problem. Families coming for genetic testing need a great deal of support.
KeywordsGenetic Testing Tuberous Sclerosis Complex Autosomal Dominant Polycystic Kidney Disease Preimplantation Genetic Diagnosis Prenatal Testing
Tuberous sclerosis (MOV 369,693 kb)
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