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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