Tuberous sclerosis: causes, symptoms and diagnosis

Tuberous sclerosis

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 manifested 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. Inheritance of autosomal dominant genes, causes Tuberous Sclerosis.


  • Learning difficulties are the main symptoms of tuberous sclerosis, found in 50 % totally 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.

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.
  • Ultrasound Scan is used to find tumors in the kidneys,
  • Echo cardiogram, Fundoscopy, are the diagnostic tests performed for Tuberous Sclerosis.

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