TSC occurs in one in 6,000 live births and affects a total of 40,000 Americans and 1,000,000 people worldwide. It is called a complex because of the wide range of clinical manifestations. Clinical signs may be subtle and, as a result, TSC can go unrecognized or misdiagnosed for many years. Although in some individuals it may take considerable time before symptoms develop, TSC is known primarily as a childhood disorder. Generally speaking, the clinical manifestations of TSC are the same for both genes.
Seizures are the most common symptom.
These facial bumps are actually small benign tumors that have a vascular, dermal, and connective tissue component to them. Individuals with TSC may also experience diminished intellectual function, autism, sleep disturbances, or hyperactivity. This finding gives us an opportunity to learn about how a single gene product results in such a devastating and often disabling array of problems, whether they are seizures, autism, or tumors in multiple organs. Brain scans may reveal an array of abnormalities, especially cortical tubers, which are firm, potato-like nodules that give the disorder its name and are made up partly of abnormal neuronal cells and glial cells, the brain s connective tissue. Other brain abnormalities include distortion and migration of certain neurons.