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ISSN 0973 - 0958
Genetic Disorder in Children
Encyclopedia
Genetic Disorder
Articles
Tuberous Sclerosis in
Children
Turner's Syndrome in
Children
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TUBEROUS SCLEROSIS
IN CHILDREN
Why does tuberous sclerosis occur?
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 2/3rd of the cases are due to spontaneous genetic errors, the cause of which is still a mystery.
How is a patient with Tuberous sclerosis diagnosed?
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 your child has tuberous sclerosis.
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 2/3rd of the cases are due to spontaneous genetic errors, the cause of which is still a mystery.
How is a patient with Tuberous sclerosis diagnosed?
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 your child has tuberous sclerosis.
Genetic Disorder Specialist
Answer
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