Tuberous sclerosis complex

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By Hema R Murali MBBS and Narayana S Murali MD

Tuberous sclerosis complex (TSC) is also known as or subsumes Bourneville disease, Diffuse cortical histioatypia, and Pringle disease. -ed.

Tuberous sclerosis complex is a constellation of signs and symptoms that constitute the diagnosis. In this update, Drs. Hema Murali and Narayana Murali at the Marshfield Clinic of Marshfield, Wisconsin, give a succinct overview of the topic while outlining the recent advances in treatment of multiple manifestations of the disease.

Key points

  • Tuberous Sclerosis is a neurocutaneous disorder with significant neurologic implications, especially with regards to epilepsy and cognition.
  • Autism is a known manifestation of this disease.
  • Significant progress has occurred in the last few years in management of the clinical features of the disease based on advances in understanding of the pathogenesis and pathophysiology.