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
Kidney: Polycystic kidney, renal cyst, renal angiomyolipoma, renal cell carcinoma
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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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas...
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