Diagnosing tuberous sclerosis

To diagnose tuberous sclerosis, you'll be asked about your family's medical history. You'll also have a number of tests to look for signs of the condition.

Healthcare professionals use a checklist of the characteristic features of tuberous sclerosis such asabnormal areas of skinor tumours in your eyes, brain, heart, lungsor kidneys to confirma diagnosis. Several tests will be needed to check for these features.

Finding out about your family's medical history is also important, because tuberous sclerosis can sometimes run in families.

Tests for tuberous sclerosis

Tests you may have to check for tuberous sclerosis include:

• an eye examination to check foreye tumours
• a skin examination to look forabnormal growths or patches ofpale or thickened skin
• a magnetic resonance imaging (MRI) scan to detect tumours in the brain or kidneys
• a computerised tomography (CT) scan or an ultrasound scan to detecttumours in the kidneys, heart or lungs
• an electroencephalogram (EEG) to detect abnormal electrical activity within the brain associated with epilepsy
• an electrocardiogram (ECG) to detect abnormal electrical activity in the heart that could be caused by heart tumours

Agenetic blood test to look for the faulty genes that cause tuberous sclerosis can also be carried out to help make a diagnosis, although this isn't always reliable.