TSC: A GENERAL OVERVIEW

Tuberous sclerosis complex (also commonly referred to as tuberous sclerosis or TS) is a rare and commonly misdiagnosed genetic disease that affects approximately 50,000 people in the United States and one million worldwide, with one in 6,000 live births affected in this country. The most common symptoms of TSC include seizures and developmental delay as well as benign tumors and lesions which can affect virtually every organ system of the body including the brain, kidneys, heart, lungs, eyes, and skin.

TSC, which can prove rather difficult to diagnose because of its rarity and the great variety of its symptoms, was first described and named in 1880 by the renowned French neurologist Desire-Magloire Bourneville. Bourneville applied the term “sclerose tubereuse” to the tumors of the brain typical in patients with the disease.

Mirriam-Webster's Medical Dictionary defines the words comprising “Tuberous Sclerosis” as such:

Tuberous: characterized by or being knobby or nodular lesions

Sclerosis: a pathological condition in which a tissue has become hard and which is produced by overgrowth of fibrous tissue and other changes (as in arteriosclerosis) or by increase in interstitial tissue and other changes (as in multiple sclerosis) -- called also hardening

In most instances, symptoms of TSC will be apparent in the first six months of life. Once a diagnosis is made, treatment can begin. While, unfortunately, there is no cure for TSC, effective treatments are available for a variety of the symptoms. Drugs to prevent seizures are accessible to patients, and surgery can often correct skin abnormalities. For other manifestations of TSC, such as developmental delay, special educational and therapeutic programs can moderate these symptoms.

The prognosis of patients with TSC varies from individual to individual. The severity of the complications determines the long term outlook, and symptoms can range from mild to extremely severe. That said, individuals that express mild symptoms and are under an experienced physician's care can expect to live a full life with normal life expectancy.

Optimistically, awareness about TSC is growing. Genetic testing is available that can identify family members who may carry a defective gene. Additionally, researchers have recently made important findings regarding the nature of TSC. Even within the last two years, remarkable progress has been made towards understanding how gene defects cause TSC

Brain Involvement
   - Epilepsy/Seizure Disorders
   - Neuro-developmental and behavioral Disorders

Kidney Involvement

Heart Involvement

Lung Involvement

Eye Involvement

Skin Involvement

Genetics