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Tuberous Sclerosis - Neurologic

A multisystem genetic disorder with cortical tubers and refractory seizures.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Tuberous Sclerosis - Neurologic?

Tuberous sclerosis complex (TSC) is an autosomal-dominant disease caused by TSC1 (hamartin) or TSC2 (tuberin) gene mutations and characterized by mTOR pathway hyperactivation; its prevalence is 1/6,000-1/10,000.

It causes multiple hamartomas in the brain (cortical tubers, subependymal nodules, SEGA), skin (angiofibromas, ash-leaf macules, shagreen patch), kidneys (angiomyolipomas), heart (rhabdomyomas), and lungs (lymphangioleiomyomatosis).

Neurologically, refractory epilepsy (80-90%), infantile spasms, autism spectrum disorder (40-50%), and intellectual disability stand out. Treatment includes anticonvulsants (vigabatrin for infantile spasms), mTOR inhibitors (everolimus), epilepsy surgery, and ketogenic diet.

Symptoms

Refractory seizures (focal, infantile spasms)
Hypopigmented spots (ash-leaf, café-au-lait)
Facial angiofibromas
Shagreen patch (rough lumbar skin)
Periungual fibromas
Autism spectrum disorder
Intellectual disability

Risk Factors

TSC1 (9q34) or TSC2 (16p13.3) mutation
Family history (autosomal dominant)
De novo mutation (60-70%)
Female sex (LAM risk)
Onset of seizures <1 year
Multiple cortical tubers (>10)
TSC2 mutation (more severe phenotype)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Infantile spasms (sudden body jerks)
  • Seizures with hypopigmented spots
  • Family history with skin findings
  • Renal mass detected incidentally
  • Cardiac mass found prenatally

Treatment Methods

01
Genetic testing (TSC1/TSC2)
02
Annual brain MRI (SEGA monitoring)
03
Renal MRI (angiomyolipoma)
04
Vigabatrin for infantile spasms
05
Everolimus (mTOR inhibitor)
06
Epilepsy surgery (selected patients)
07
Ketogenic diet

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.