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| Tuberous Sclerosis Bourneville Disease | Epiloia | Phakomatosis, Bourneville | Bourneville' | s Disease | Phacomatosis, Bourneville | Bourneville Phacomatosis | Bourneville Phakomatosis | Epiloias | Sclerosis, Tuberous An autosomal dominant disorder which is generally classified as a phacomatosis. Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina. There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes. Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS; INFANTILE; Shagreen patches on the trunk; and subungual fibromas. (From Adams et al., Principles of Neurology, 6th ed, p1011) |