TERMINAL RENAL-FAILURE IN TUBEROUS SCLERO SIS

A now 33-year-old woman first had psychomotor seizures at the age of 3 years. At 9 years tuberous sclerosis (Bourneville-Pringle disease) wa s diagnosed, on the basis of sebaceous adenoma, white spots of the ski n and periventricular cerebral calcifications. Later she developed hyp erostoses of the cranium and two periungual fibromas. When aged 23 yea rs she was first noted to have borderline hypertension (145/95 mm Hg) and signs of renal insufficiency which, over the subsequent 10 years, gradually worsened: computed tomography and magnetic resonance imaging demonstrated angiolipomas and cysts. Haemodialysis became necessary w hen serum creatinine level had risen to 9.0 mg/dl, creatinine clearanc e to 8 ml/min, with proteinuria of 2660 mg/24 h and metabolic acidosis (pH 7.17, base excess -8.1 mmol). She had no mental retardation nor o ther neurological deficits and is scheduled to have renal transplantat ion. There were no hamartomas in other organs.