Tuberous
Sclerosis (TS) is a genetic disorder, which
can affect people to varying degrees of
severity. The name is derived from
the growths on the brain, which are subject
to a build-up of calcium salts and become
hard (sclerotic) over time.
Some people
are so mildly affected that the condition
often goes undiagnosed. It is estimated
that there are around 8,000 people with
TS in the UK.
Symptoms
TS is characterised
by lesions of the skin and central nervous
system, benign (non-cancerous) tumour growth
and seizures. These abnormal growths can
affect almost any organ of the body and
will show up on a computerised tomography
scan (CT scan).
Some people
with TS also experience developmental delay,
learning difficulties and autism.
Loss of pigment on skin patches, and a specific
facial rash called Facial Angiofibroma,
are also indicators of TS.
Causes
In 50% of
cases there are no other sufferers within
the family, and many people with TS show
no definitive symptoms. Therefore
it is important for parents and siblings
of those known to have the condition to
be tested for the TS gene. There is a one
in two chance of passing it on to future
children.
Treatment
There is
no cure for TS, though over 50% of sufferers
lead completely normal lives.
However,
treatment can be given for individual symptoms
and may include:
- anticonvulsant
drugs prescribed to control seizures,
- drug therapy
to counteract the high blood pressure
caused by kidney problems,
- surgical
removal of tumours, and
- dermabrasion
or laser removal of skin lesions.
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Tuberous Sclerosis
