Journal of Pediatric Health Care
Volume 21, Issue 2 , Pages 108-114, March 2007

Tuberous Sclerosis Complex: A Review

  • Alexander K.C. Leung, MBBS, FRCPC, FRCP (UK & Irel), FRCPCH

      Affiliations

    • Corresponding Author InformationCorrespondence: Dr. Alexander K. C. Leung, #200, 233-16th Ave NW, Calgary, Alberta, Canada T2M 0H5
    • ,
  • W. Lane M. Robson, MD, FRCPC, FRCP (Glasg)

Abstract 

Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex may affect the skin, central nervous system, kidneys, heart, eyes, blood vessels, lungs, bone, and gastrointestinal tract. The diagnosis of TSC is based on the identification of hamartomas in more than one organ system. Treatment should be symptomatic and organ specific. A multidisciplinary management approach is necessary.

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PII: S0891-5245(06)00276-8

doi:10.1016/j.pedhc.2006.05.004

Journal of Pediatric Health Care
Volume 21, Issue 2 , Pages 108-114, March 2007

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