The length of time that it takes to make a successful diagnosis of tuberous sclerosis will depend on how severe a child’s symptoms are.
For example, in a young child who quickly develops symptoms of epilepsy and kidney disease, tuberous sclerosis may immediately be suspected as an underlying cause. However, in children with few symptoms, a diagnosis may not be made until they develop patches on their skin, which can take several years.
Diagnostic checklist
Healthcare professionals use a diagnostic checklist to help diagnose tuberous sclerosis. The checklist is made up of major and minor features. If a child has at least two major features, or one major and two minor features, it is likely that they have tuberous sclerosis.
The major features include:
- skin lesions on the face or body
- multiple eye tumours
- brain tumour(s)
- heart tumour(s)
- kidney tumour(s)
- lung tumour(s)
The minor features include:
- small pits in the teeth
- small tumours (polyps) inside the rectum or colon
- fluid-filled holes inside a bone (bone cysts)
- evidence of abnormal brain development
- small lumps or tumours in the gums
Testing for tuberous sclerosis
A number of tests can also help to confirm a diagnosis of tuberous sclerosis. These are:
- an eye examination – eye tumours can often be the first sign of tuberous sclerosis
- a skin examination – an ultraviolet light is often used during the examination because it can reveal skin lesions that have lost their colour (depigmented) or white patches
- a magnetic resonance imaging (MRI) scan, which can often detect tumours within the brain
- a computerised tomography (CT) scan or an ultrasound scan – these scans can often detect tumours within the kidneys, heart or lungs
- an electroencephalogram (EEG) – a test that can detect abnormal electrical activity within the brain
- an electrocardiogram (ECG) – a test that can detect abnormal electrical activity within the heart
