Tuberous Sclerosis

• Autosomal dominant characterized by adenoma sebaceum, seizures and mental retardation

• Hamartomas in various organ systems

• 50 percent mentally retarded

• 80 percent have angiomyolipomas of kidneys

• Two-thirds have intracranial calcifications

  • Calcifications in brain and dentate nucleus and basil ganglia

  • Calcification usually multiple 75%

  • Usually central  - periventricular

  • Rarely in the cerebellum

Tuberous Sclerosis. There are multiple, central, punctate calcifications (white arrows) in a periventricular distribution.

• Also may have calvarial calcification in 40 to 50 percent of cases

  • Involvement in the form of small areas of fairly well circumscribed hyperostosis

  • Usually unilateral in frontal-parietal bone

• 75 percent are dead by age 20 of CNS involvement

• CNS almost always involved by hamartomas

  • Mostly periventricular. 

  • X-rays may show periventricular, intracerebral and cranial vault calcifications

  • Usually multiple, increase with age

  • Produce candle guttering on CT

• Differential diagnosis from toxoplasmosis and CMD

• Adenoma sebaceum pink nodules on face in 90% are actually angiofibromas

• Also subungual fibromas and Shagreen  patches

• About 65 percent have angiomyolipomas of kidney

  • About one half of patients with angiomyolipoma have tuberous sclerosis

  • Usually asymptomatic, grow very slowly

  • May be lucent on plain film

  • Angiography may not be able to differentiate from hypernephromas

• Bone

  • Most common are local areas of osteosclerosis

  • Ovoid with poorly defined margins,

  • Tendency for the lesions to cluster on the iliac side of the SI joints

• Lung

  • Very uncommon

  • Diffuse interstitial disease