Tuberous Sclerosis in Children

Introduction to Tuberous Sclerosis in Children

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of benign tumors in multiple organ systems, including the brain, skin, heart, kidneys, and lungs.

Key Points:

  • Incidence: Approximately 1 in 6,000 to 10,000 live births
  • Inheritance: Autosomal dominant, though 60-70% of cases are due to de novo mutations
  • Genes involved: TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13.3)

Genetics and Pathophysiology

TSC is caused by mutations in either the TSC1 or TSC2 gene:

  • TSC1 encodes hamartin
  • TSC2 encodes tuberin
  • These proteins form a complex that inhibits the mammalian target of rapamycin (mTOR) pathway
  • Loss of this inhibition leads to uncontrolled cell growth and tumor formation


Tuberous Sclerosis in Children
  1. Question: What is the genetic basis of Tuberous Sclerosis Complex (TSC)? Answer: Mutations in either the TSC1 or TSC2 gene
  2. Question: What is the pattern of inheritance for Tuberous Sclerosis Complex? Answer: Autosomal dominant
  3. Question: What percentage of TSC cases are due to spontaneous mutations? Answer: Approximately 60-70%
  4. Question: What are the characteristic skin lesions seen in TSC called? Answer: Angiofibromas
  5. Question: At what age do facial angiofibromas typically appear in children with TSC? Answer: Between 2 and 5 years of age
  6. Question: What is the name of the characteristic white patches on the skin in TSC? Answer: Hypomelanotic macules or "ash leaf spots"
  7. Question: What is the term for the raised, flesh-colored patches often found on the lower back in TSC? Answer: Shagreen patches
  8. Question: What are the characteristic brain lesions seen in TSC called? Answer: Cortical tubers
  9. Question: What percentage of individuals with TSC develop seizures? Answer: Approximately 80-90%
  10. Question: What type of seizure is often seen in infants with TSC? Answer: Infantile spasms
  11. Question: What is the most common heart tumor associated with TSC? Answer: Cardiac rhabdomyoma
  12. Question: At what age do cardiac rhabdomyomas typically regress in children with TSC? Answer: Usually by age 6 years
  13. Question: What is the most common renal manifestation of TSC? Answer: Angiomyolipomas
  14. Question: What is the estimated incidence of TSC? Answer: Approximately 1 in 6,000 to 1 in 10,000 live births
  15. Question: What percentage of individuals with TSC have some degree of intellectual disability? Answer: Approximately 50%
  16. Question: What is the term for the characteristic retinal lesions seen in TSC? Answer: Retinal hamartomas
  17. Question: What is the primary treatment for seizures in children with TSC? Answer: Anticonvulsant medications
  18. Question: What class of medications has shown promise in treating various manifestations of TSC? Answer: mTOR inhibitors (e.g., everolimus, sirolimus)
  19. Question: What is the recommended frequency of brain MRI scans for children with TSC? Answer: Every 1-3 years, depending on the presence of symptoms
  20. Question: What is the name of the lung condition that can develop in women with TSC? Answer: Lymphangioleiomyomatosis (LAM)
  21. Question: What is the recommended age to start screening for renal angiomyolipomas in TSC? Answer: From diagnosis, with baseline imaging at diagnosis or by age 12 months
  22. Question: What is the primary concern with large renal angiomyolipomas in TSC? Answer: Risk of hemorrhage
  23. Question: What is the recommended frequency of ophthalmological examinations for children with TSC? Answer: Annually
  24. Question: What is the term for the small, fibrous nodules that can develop around or under the fingernails and toenails in TSC? Answer: Ungual fibromas
  25. Question: What is the recommended frequency of echocardiograms for children with TSC? Answer: Every 1-3 years in asymptomatic patients, more frequently if symptomatic
  26. Question: What is the primary goal of treatment for TSC in children? Answer: Early detection and management of complications
  27. Question: What type of specialist typically coordinates care for children with TSC? Answer: Pediatric neurologist or geneticist
  28. Question: What is the risk of developing subependymal giant cell astrocytomas (SEGAs) in individuals with TSC? Answer: Approximately 10-20%
  29. Question: What imaging technique is most useful for detecting and monitoring SEGAs in TSC? Answer: MRI with contrast
  30. Question: What is the recommended treatment for growing, symptomatic SEGAs in TSC? Answer: Surgical resection or mTOR inhibitor therapy
  31. Question: What is the term for the dental abnormalities often seen in TSC? Answer: Dental enamel pits
  32. Question: What is the recommended age to start screening for autism spectrum disorder in children with TSC? Answer: By 18 months of age
  33. Question: What percentage of individuals with TSC develop autism spectrum disorder? Answer: Approximately 25-50%




Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.





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