Introduction

  • Genetic disorder inherited in an autosomal dominant fashion.
  • Characterized by increased predisposition to hamartoma formation.
  • Mutations in genes TSC1 and TSC2 causing neurological disorders like epilepsy and intellectual disability.
  • Other involved organ systems: pulmonary, renal, dermatologic, cardiac.
  • Usually diagnosed in childhood/infancy; can be diagnosed earlier or later.
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