What are the common tests for tuberous sclerosis?

  Since tuberous sclerosis can involve multiple systems or organs, ancillary tests are very important for the diagnosis of tuberous sclerosis and monitoring changes in the disease.  1.Head MRI or CT: Routine examination in the process of diagnosing TSC. To monitor the progression of giant cell astrocytoma, it is recommended that children be reviewed every 1 to 3 years (at least once a year if the giant cell astrocytoma is >1 cm or if the child’s expression is affected by intelligence problems).  2. EEG: For asymptomatic children younger than 2 years old, it is recommended to review the EEG every 6 weeks for early initiation of antiepileptic treatment. For patients with epilepsy, the frequency of EEG review depends on the condition of the epilepsy.  3. Evaluation of psychomotor development: When diagnosing TSC, an evaluation should be performed. Before going to school, a further evaluation may be performed.  4.Skin examination: When diagnosing TSC, careful examination should be performed.  5.Ophthalmologic examination: When diagnosing TSC, it should be carefully examined.  6.Cardiac ultrasound and electrocardiogram: When diagnosing TSC, especially for younger children.  7. Chest CT and pulmonary function: Chest CT should be performed even for young female patients without pulmonary symptoms. Women with lymphangioleiomyomatosis should have their pulmonary function rechecked every 6-12 months.  8. Renal ultrasound and renal function: All patients should undergo renal ultrasound at the time of diagnosis of TSC. Older children and adults should be rechecked every 1~3 years. When children have polycystic kidney and adult patients have severe renal damage, renal clearance should be performed.