How TSC is diagnosed

Tuberous Sclerosis Complex can be diagnosed at any time, usually depending on what signs and symptoms present. The time of diagnosis can vary from before birth to any time in adulthood.

Signs and symptoms

Diagnosis of TSC is based on finding a number of different features. No single feature is unique to TSC. However some features are seen very frequently in people with TSC (called major features) while others are more common in people with TSC but fairly common in the general population (called minor features). To make a definite diagnosis a doctor needs to find two major features.

For many children the first signs that they may have TSC is when they develop epilepsy but other people may be diagnosed later as a result of skins signs, kidney problems or when they have a child diagnosed with TSC.

Diagnostic tests

When a child or adult is suspected of having TSC doctors will do a series of tests. These may include skin screening under ultra violet light to look for white patches, a brain scan (CT or MRI) to check for growths in the brain, a scan of the kidneys to check for growths and an EEG (brain wave recording) to check for epilepsy.

In most cases the results of these tests will confirm whether the child or adult has TSC. See Effects of TSC for more information.

Testing family members

Doctors may also arrange tests on other family members, if they wish, since TSC is a genetic disorder which means it can be inherited from a parent or passed onto a child. See The Genetics of TSC for more information. A blood test is also available which may find the alteration in the gene of an affected person. This information can be used to test family members where there is uncertainty and in future antenatal testing.

Page created by TSA staff and reviewed by Dr Chris Kingswood FRCP, Royal Sussex County Hospital, May 2008