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Updated: Dec 12 2021

Tuberous Sclerosis

  • Snapshot
    • A 1-year-old boy presents to the pediatric emergency department with abnormal shaking. The parents decribe these shaking episodes as sudden and brief symmetric contractions of his upper and lower extremities. The infant sustains the contraction for a few seconds and subsequently relaxes. On physical examination he continues to have these spells and is treated with midazolam. Laboratory testing is unremarkable. After these episodes subside, he undergoes an EEG, which demonstrates hypsarrhythmia. An MRI brain with and without gadolinium testing demonstrates cortical dysplasia. Genetic testing is remarkable for a TSC1 mutation.
  • Introduction
    • Definition
      • neurocutaneous autosomal dominant disease that can affect any organ
  • Epidemiology
    • Incidence
      • neurologic disease is the most common cause of death
      • renal disease is the second most common cause of death
  • Etiology
    • TSC1 mutation
      • encodes hamartin on chromosome 9
    • TSC2 mutation
      • encodes tuberin on chromosome 16
    • Pathogenesis
      • normally, hamartin and tuberin form a complex that down regulates mTOR signaling
        • when these proteins are disrupted, it leads to unregulated cell growth and proliferation, ultimately resulting in the formation of hamartomas in various locations
  • Presentation
    • Symptoms/physical exam
      • central nervous system
        • seizures
          • secondary to
            • cortical dysplasia (tubers)
            • subependymal nodules
            • subependymal giant cell astrocytomas
          • can present as infantile spasms in infants and have hypsarrhythmias on EEG
        • intellectual disability
      • cardiac
        • arrhythmias
          • secondary to cardiac rhabdomyomas (common in infants)
        • mitral regurgitation
      • renal
        • renal failure
          • secondary to progressive enlargment of angiomyolipomas
      • dermatologic
        • facial angiofibromas
        • hypomelanotic macules (Ash leaf spots)
        • ungual fibromas
        • shagreen patches
  • Imaging
    • MRI brain with and without gadolinium
      • findings
        • cortical tubers
        • lesions in the ependymal lining of the third and fourth ventricles
    • MRI of the abdomen
      • findings
        • may demonstrate renal angiomyolipomas
  • Studies
    • Genetic testing
      • confirms the diagnosis
  • Differential
    • Other causes of seizures
      • differentiating factors
        • can be secondary to
          • hypoglycemia
          • hyper- or hyponatremia
          • brain malignancy
          • other seizure disorders (e.g., juvenile myoclonus)
  • Treatment
    • Medical
      • corticotropin
        • indication
          • the treatment of choice of infantile spasms
            • note that vigabatrin can be used as an alternative
        • medication
          • adrenocorticotropic hormone (ACTH)
  • Complications
    • Seizures
    • Obstructive hydrocephalus
    • End stage renal disease
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