Tuberous sclerosis

Tuberous sclerosis 

Updated: 11/01/2021

© Jun Wang, MD, PhD

General features
  • Autosomal dominant syndrome
  • De novo mutation of TSC1 or TSC2 may be seen in sporadic cases
  • Affecting differentiation, proliferation, and migration early in development
  • Increased risk of malignancy
Clinical presentations
  • Variety of hamartomatous lesions
  • Commonly involve multiple organs
Brain: Tubers, subependymal nodules, subependymal giant cell astrocytomas (SEGAs), may cause seizures
Heart: Rhabdomyoma
Skin: Ash-leaf spots, adenoma sebaceum, shagreen patch
Eyes: Retinal astrocytomas
Lung: Lymphangioleiomyomatosis, causing dyspnea and pneumothorax
Liver: Cyst, angiomyolipomas
Genetic abnormalities
  • TSC1
  • TSC2
Work ups
  • Laboratory studies: Genetic mutations
  • Imaging studies: Tumors of brain, kidney, heart, etc
  • Electroencephalography: If seizures are suspected
  • Electrocardiography: Arrhythmias (May cause death)
Management
  • Treatments of neurologic and systemic manifestations
  • mTOR inhibitors: Everolimus for TS that cannot be treated with surgery
  • Surgery:  Focal cortical resection, corpus callosotomy, or vagus nerve stimulation
  • All newly diagnosed patients should be evaluated for TSC-associated neuropsychiatric disorders
  • Counseling for patients and families
Prognosis
  • Progressive disorder overall, cardiac lesions may spontaneously regress
  • Causes of death: Neurologic (Most common), pulmonary and renal disease


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