Learning Radiology xray montage
 
 
 
 
 

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

  • 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