Tuberous Sclerosis

J Pak Med Assoc. 2019 Mar;69(3):445.

Abstract

Tuberous sclerosis is a rare genetic disorder inherited in an autosomal dominant fashion. It is a multisystem disorder involving brain, eye, skin, kidney and lungs which manifest in late childhood. We present a typical case of tuberous sclerosis in a young female patient.Extensive work-up including MRI brain, MRI abdomen and CT Thorax was performed. The clinical and radiological findingswere consistent with thediagnosis of tuberous sclerosis.

Publication types

  • Case Reports

MeSH terms

  • Angiofibroma / diagnosis
  • Angiomyolipoma / diagnostic imaging*
  • Brain / diagnostic imaging*
  • Female
  • Humans
  • Kidney Neoplasms / diagnostic imaging*
  • Liver Neoplasms / diagnostic imaging*
  • Magnetic Resonance Imaging
  • Neoplasms, Multiple Primary / diagnostic imaging*
  • Skin Neoplasms / diagnosis
  • Thoracic Vertebrae / diagnostic imaging*
  • Tomography, X-Ray Computed
  • Tuberous Sclerosis / diagnostic imaging*
  • Young Adult