Diagnosis of Tuberous sclerosis

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Diagnosis of TS is made on the basis of identifying two or more of the main features of the condition such as the tuber-like growths, skin markings, epilepsy, behavioural and developmental problems. A diagnosis may be made by a GP, although sometimes a person with suspected TS will be refered to a specialist before a firm diagnosis is made.

Sometimes, a number of diagnostic tests might be carried out. This can include:

CT or MRI scans of the brain
Skin examination with ultraviolet (UV) light
Ultrasound scan of the kidneys and bladder (renal fundoscopy)
Ultrasound scan of the heart (echocardiography)

If a firm diagnosis of TS is made, it is usual to test other people in the person's family for the condition. This is to find out if anyone else has the condition but is not aware of it (this is common if the symptoms are very mild). It is important to know this in case symptoms develop later on and so the person is aware of the risks of passing the condition on to any children they may decide to have in the future.

In other family members diagnosis may be carried out in the same way, although there is also the possibility of using a DNA test. Usually this will be discussed during 'genetic counselling'. This is where specially trained counsellors will explain the options available and what the diagosis means for your family.

Prenatal (before birth) diagnosis is available where one or both parents are known to have the TS gene. This uses ultrasound scans to detect any calcified growths in the heart and by chorionic villus sampling which is usually carried out at week 12 of a pregnancy.