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Tuberous sclerosis complex

Sclerosis tuberosa (morbus Bourneville) · Tuberózní skleróza

What it is

A gene fault (TSC1 or TSC2) that lets benign growths form in the brain, kidneys, heart, skin and lungs; epilepsy is the heaviest burden.

Symptoms & signs

  • Seizures, often in infancy
  • pale leaf-shaped skin patches
  • facial spots across the nose
  • learning difficulties and autism
  • kidney growths that can bleed

🚩 Get help if…

  • call 112 / 911 now A fit lasting over 5 minutes or fits one after another
  • call 112 / 911 now Severe headache with vomiting or drowsiness
  • call 112 / 911 now Sudden belly or flank pain with pale skin (bleeding kidney growth)
  • see a doctor soon Baby with repeated jerks or clusters of spasms

Where it strikes

Medical treatment

  • Genetic testing and MRI
  • vigabatrin and other anti-seizure drugs
  • everolimus (mTOR inhibitor)
  • topical sirolimus for the facial spots
  • cannabidiol, licensed for its seizures
  • regular kidney and brain scans

Natural & lifestyle

  • Ketogenic diet for difficult seizures
  • sun protection of the skin

Emerging & experimental

  • Preventive vigabatrin in babies

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Cannabidiol — trials cut seizures; now a licensed drug trials support
  • Ketogenic diet — studies cut seizures early / small studies
  • Herbal anti-seizure remedies — anecdotal anecdotal / traditional

ICD codes