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Tuberous Sclerosis, Genetic Causes, Diagnosis

Tuberous Sclerosis is a genetic disease, forms benign tumor in the brain and other vital organs of the body such as heart, kidney, lungs, eyes, skin etc. Tuberous Sclerosis mainly affects the central nervous system.



Tuberous Sclerosis is manisfested by seizures, convulsions, behavioural problems, mental retardation, skin disorders, pulmonary and renal disorders, etc. Tuberous Sclerosis may be present at birth but the symptoms are seen during growing period of the child. The gyri, foldings of brain becomes thick and firm in the TSC affected individual.

Causes of Tuberous Sclerosis,

Genetic cause is the main cause of tuberous Sclerosis. Inheritence of Autosomal dominant genes, causes Tuberous Sclerosis.

SIGNS AND SYMPTOMSis.



* Learning difficulties are the main symptoms of tuberous sclerosis, found in 50 % totaly affected.
* Less intelligent quotient, ( IQ ), when large part of brain is involved.
* Autism is seen in nearly 25 % of Tuberous Sclerosis affected.
* Behavioural problems,
* Difficulty in adjustment to environment,
* Aggression, OCD, etc.

Are the main symptoms of Tuberous Sclerosis.

The Tuberous Sclerosis individual Will have the symptoms of renal, pulmonary or integumentary system on the basis of tumors presence on those organs.

Diagnosis of Tuberous sclerosis

* Family history helps in diagnosing tuberous Sclerosis, as it helps in knowing any history of Genetic cause.
* Woods Lamp is used to visualise the skin, mouth, etc..
* CT scan, MRI scans provides clear image of the affected part.
* Ultrasoundscan is used to find tumors in the kidneys,
* Echocardiogram, Fundoscopy, are the diagnostic tests performed for Tuberous Sclerosis.

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