Embarrassing Illnesses

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. This can take several years.

The diagnostic criteria for tuberous sclerosis

Health professionals use a diagnostic criteria, or checklist, to help them make a diagnosis of 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), and
• lung tumour(s).

The minor features include:

• small pits in the teeth,
• small tumours (polyps) inside the rectum or colon,
• fluid-filled cavities inside a bone (bone cysts),
• evidence of abnormal brain development, and
• small lumps or tumours in the gums.

Testing for tuberous sclerosis

There are also a number of tests that can be used to help confirm a diagnosis of tuberous sclerosis. These are:

• Eye examination: eye tumours can often be the first sign of tuberous sclerosis.
• Skin examination: an ultraviolet (UV) light is often used during the examination because it can often reveal skin lesions that are in their early stages.
• Magnetic resonance imaging (MRI) scan: this can often detect the presence of tumours within the brain.
• Computerised Tomography (CT) scan, or ultrasound scan: this can often detect the presence of 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.