Bourneville's disease

Bourneville's Disease also known as Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system and can result in a combination of symptoms including seizures, developmental delay, and skin abnormalities.

History

The disease was first described in the 1880s by French neurologist Désiré-Magloire Bourneville. The name "Tuberous Sclerosis" is derived from the characteristic tuber or potato-like nodules in the brain, which become calcified and sclerotic with age.

Genetics

Bourneville's Disease is caused by mutations in either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumor growth suppressors and regulate cell proliferation and differentiation.

Symptoms

The symptoms of Bourneville's Disease can range from mild to severe, depending on the size and location of the tumors. Common symptoms include seizures, mental retardation, behavior problems, skin abnormalities, and lung and kidney disease.

Diagnosis

Diagnosis of Bourneville's Disease is based on clinical criteria. Genetic testing can confirm the diagnosis. Imaging studies such as MRI and CT scan can be used to identify tumors in the brain and other organs.

Treatment

There is no cure for Bourneville's Disease. Treatment is symptomatic and supportive, and may include medications to control seizures, special education for developmental delays, and surgery to remove tumors.

Prognosis

The prognosis for individuals with Bourneville's Disease varies and depends on the severity of symptoms. With appropriate medical care, most individuals with the disease can live a normal life span.

See also

• Genetic disorders
• Neurocutaneous syndromes
• Epilepsy

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