Tuberous Sclerosis

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Tuberous Sclerosis Diagnosis & Tests

• Examination of the eyes may show retinal abnormalities, pale patches, mulberry tumor or phakoma or astrocytoma (tumor).
• There may be some indications of heart abnormalities including abnormal heart rhythm (electorcardiogram) or tumor (rhabdomyoma) on ultrasound.
• An MRI of the head demonstrates tumors or benign "tubers" in the brain.
• A CAT scan of the head may reveal calcium deposits in the brain.
• The mouth may show rubbery growths in tongue or gingiva.
• Ultrasound of kidney may show cysts, fatty benign tumors or serious tumors.
• Ultraviolet light examination of the skin may show ash leaf spots not visible in ordinary light.
• There may be a family history of the condition. Genetic testing for either of two genes that can cause this disease (TSC1 or 2) may be available.