Chapter 17 - Approach to the patient with tuberous sclerosis

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous condition characterized by a predisposition to hamartomas in the brain, heart, kidney, skin, eye, and other organs. TSC is the second most common neurogenetic tumor syndrome affecting approximately 1 in 5500 to 10,000 live births, making it less common than NF1 but more common than NF2.1–5 There is no racial, ethnic, or sex predilection.6,7 Neurologic and neuro-oncologic manifestations feature prominently, with the majority of patients experiencing seizures, many with refractory epilepsy, and neuroimaging revealing cortical tubers that are the hallmark of the disease along with subependymal nodules and, in some cases, subependymal giant cell astrocytomas (SEGAs). Any organ can be affected with common extra-nervous system manifestations including renal angiomyolipomas (AMLs), pulmonary lymphangioleiomyomatosis (LAM), cardiac rhabdomyomas, facial angiofibromas, and neurocognitive or neuropsychiatric symptoms (e.g., TSC-associated neuropsychiatric disorder, TAND).