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Diagnosis and Management of Children With Tuberous Sclerosis Complex

Celia Dewell1, Denise L Chan1,2, Vanessa Sarkozy1,2

  • 1Tuberous Sclerosis Complex Management Clinic, Sydney Children's Hospital, Sydney, Australia.

Journal of Paediatrics and Child Health
|November 22, 2025
PubMed

Insights

Tuberous sclerosis complex (TSC) is a genetic disorder affecting multiple organs. Early diagnosis and multidisciplinary care, including precision medicine, can significantly improve outcomes for patients with TSC.

Area of Science:

  • Genetics and Medicine
  • Neurology
  • Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by variants in TSC1 or TSC2 genes.
  • It presents with benign tumors (hamartomas) in various organs and neurological complications like epilepsy and developmental disabilities.
  • TSC affects multiple systems, including the brain, kidneys, skin, and heart, with variable onset and severity.

Purpose of the Study:

  • To describe a multidisciplinary model of care for Tuberous Sclerosis Complex (TSC).
  • To emphasize early detection, diagnosis, and active surveillance of seizures in TSC.
  • To outline lifelong management guidelines for TSC-specific manifestations.

Main Methods:

  • Review of clinical presentation, diagnosis, and genetic basis of TSC.
  • Discussion of genetic counseling's role in TSC management.
  • Emphasis on surveillance and management strategies for TSC-related issues.

Main Results:

  • TSC necessitates a multidisciplinary approach for comprehensive patient care.
  • Early diagnosis and intervention, including precision medicine (mTOR inhibitors), can mitigate disease burden.
  • Active surveillance and management of seizures are crucial for affected children.

Conclusions:

  • A structured, multidisciplinary model of care is essential for optimizing outcomes in Tuberous Sclerosis Complex.
  • Lifelong surveillance and tailored management of neurological, developmental, and organ-specific issues are critical.
  • Precision medicine offers targeted therapeutic options for epilepsy and tumors in TSC.

Keywords:
early managementepilepsysurveillancetuberous sclerosis complex

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