Tuberous Sclerosis Syndrome

Tuberous sclerosis is a rare, genetic disease which is mostly multi systemic and causes benign tumour in the brain or other vital organs in a developing child. The benign tumour can be in the heart, kidney, lungs, skin or eyes. Developmental delay and seizures are the primary concerns.

Incidence

  • 1 in 25000-40,000 children worldwide
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Signs and Symptoms

  • If the benign tumour in the CNS, it causes
  • Developmental Delay
  • Epilepsy / Seizure disorders
  • Behavioural problems / Autism like behaviours
  • Learning difficulties
  • Tumours can be in body parts / Cyst (Kidney /Heart/ Lungs /Eyes / Skin, etc)

Types / Variety

  • Tuberous sclerosis can be very mild where the person is healthy and can be severe where multiple vital organs are affected
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Causes

  • Genetic

Diagnosis Making

  • Medical and family history
  • CT scan / MRI Scan
  • Renal Ultrasound
  • ECK/ echocardiogram
  • Skin examination (Use of wood’s Lamp)
  • Ophthalmological Examination, etc
  •  

 Treatment / Management

  • Both medical management and habilitation therapies are required

Medical Management

  • Usage of different drugs to control seizure, tumours, and other associated conditions

Habilitation Therapy

  • Physiotherapy
  • Occupational Therapy

Special Education
speech Therapy
Behaviour therapy

Prognosis
Very varied prognosis
Milder forms can lead very healthy life and the severely affected on require

If you want to know more about Tuberous Sclerosis or want to consult us, please contact us at
Mail: helpicd@gmail.com,  Whatsapp: +91-7838809241,  Voice Call: +91-11-41012124

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