Tuberous sclerosis natural history, complications and prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]

Tuberous sclerosis is a disease that presents with a wide spectrum of clinical manifestations. With appropriate medical care, most individuals can expect normal life expectancy.

• 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.

• Common complications of tuberous sclerosis include:
  • Blindness (due to retinal astrocytic hamartomas);^[1]
  • Internal bleeding (due to ruptured angiomyolipomas);
  • Renal-cell carcinomas;^[2][3]
  • Chronic kidney disease;^[4]
  • Lymphangiomyomatosis;
  • Multifocal micronodular pneumocyte hyperplasia;^[2]
  • Epilepsy, including its more severe form: infantile spasms;
  • Obstructive hydrocephalus due to subependymal giant cell astrocytomas;
  • Anxiety;
  • Autism;^[2]
  • Heart failure due to intracavitary cardiac rhabdomyomas.^[5]

• 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.