Q4).
Why does tuberous sclerosis occur?
A4).
Tuberous sclerosis is a genetic disorder (due to errors in the
genes). Children have a 50% chance of inheriting tuberous sclerosis
if one of the parents have this condition. However 2/3
rd
of the cases are due to spontaneous genetic errors, the cause
of which is still a mystery.
Q5).
How is a patient with Tuberous sclerosis diagnosed?
A5).
Since the effects of Tuberous sclerosis are variable, the condition
can be diagnosed anytime from infancy to adulthood. By the age
of 5 – 10 yrs, it is possible to predict the extent of the
disease and problems that can occur later.
A
classical picture of Tuberous sclerosis is mental retardation,
epilepsy and adenoma sebaceum. Depending upon the age of the child,
the following tests are done:-
- Brain
MRI or CT Scan.
- EEG(
Brain Wave recording)
- Skin
examination under UVLight ( Wood’s Lamp).
- Echocardiogram
of the heart
- Ultrasound
of the kidneys
- Eye
examination
- Blood
test to check renal functioning and anaemia
From
the above tests, your doctor will be able to tell you whether
you child has tuberous sclerosis.
Q6). How is a child with Tuberous sclerosis managed?
A6).
The following should be especially taken care of :-
-
Epilepsy :-
It may not always be possible to stop fits altogether, however,
best possible control with antiepileptic drugs and minimum side
effects should be the goal.
-
Developmental delay :-
The speech and communication is usually delayed rather than
motor delay.
-
Renal problems :-
Blood pressure and blood test for renal functions should be
checked annually.
-
Standard eye and hearing check
– ups should be carried out.
These are especially important in a child with a learning disability,
so that these problems can be corrected to maximize the learning
capacity. Regular dental checkup is also important as certain
antiepileptic medication may cause teeth problems.
-
Facial rash ( adenoma
sebaceum) may be seen and can be disguised with special make
– up or treated with laser therapy.
- Signs
for hydrocephalus should always be looked for.
Last
updated on 14-05-2001
