Tuberous sclerosis complex: report of two intrafamilial cases, both in mother and daughter

Rom J Morphol Embryol. 2009;50(1):119-24.

Abstract

Tuberous sclerosis complex (TSC) is a multisystem syndrome characterized by neurological symptoms and tumors in multiple organs including kidney, brain, skin, eyes, heart and lung. Kidney and brain are the two most frequently affected organs in TSC. TSC is an autosomal disorder with extensive clinical variability. We described TSC in a family at a mother and her daughter. We emphasized the importance of Computed Tomography in the discovery of some asymptomatic organic involvement as bilateral renal angiolipoma in the mother.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Calcinosis / pathology
  • Child, Preschool
  • Humans
  • Kidney Neoplasms / diagnostic imaging
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology*
  • Mothers
  • Nuclear Family
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / pathology*