Tuberous sclerosis natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Natural History, Complications, Prognosis

Natural History

• Those individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities.
• However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.

Complications

• Cardiac failure due to rhabdomyomas
• Bronchopneumonia
• Lymphangiomyomatosis of the lung is only a risk for females with AMLs.
• Renal failure
• Autosomal dominant polycystic kidney disease in 2 % patients.
• Angiomyolipoma (AML) and cysts in kidneys are common, and more frequent in females than males and in TSC2 than TSC1.
• Renal cell carcinoma is uncommon.
• Brain tumor
• Status epilepticus
• Subependymal giant cell astrocytomas (SEGA)
• Hydrocephalus

Prognosis

• The prognosis for individuals with TSC depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities and epilepsy to severe mental retardation, uncontrollable seizures, and kidney failure.