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Dr. Anand Saggar

Dr. Anand Saggar - MBBS, CCST, FRCP

Medical Genetic Specialist

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07970 886663

Tuberous Sclerosis

Tuberous Sclerosis is a multisystem disorder with a highly variable clinical presentation. The high degree of variability has led to the condition now being called tuberous sclerosis complex (TSC).

Epidemiology

  • Incidence is ~ 1/10 000
  • Male = Female

Clinical presentation

  • The most common presentation is in childhood with epilepsy [90%] or developmental delay [80%] or infantile spasms [30%]
  • Up to 50% of affected individuals may also have normal intel-ligence. 
  • Increasing numbers are being diagnosed in adulthood.

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Physical signs

  • Facial angiofibromas or forehead plaques
  • Ungal fibromas
  • Hypopigmented macules
  • Shagreen patch

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Diagnosis

Diagnostic criteria have been developed for TSC which require 2 major features or one major and 2 minor features.

Major clinical diagnostic features

  • Developmental delay
  • Epilepsy
  • Subependymal nodules/ hamartomas /cortical tubers
  • Periventricular calcification
  • Facial angiofibromas or forehead plaques
  • Ungal fibromas
  • Hypopigmented macules
  • Shagreen patch
  • Renal angiomyolipomas
  • Cardiac rhabdomyoamas (as neonates) [30-70%]

Minor clinical diagnostic features

  • Renal cysts [40%]
  • Dental Pits
  • Bone cysts
  • Rectal polyp hamartomas
  • Retinal hamartomas
  • Hepatic hamartomas[15%]

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Complications

  • Sporadic mutation patients with TSC1 mutations have a milder condition compared to TSC2 patients. Otherwise there is little difference between the genotypes in their complication rates.

The lesions of TSC are often asymptomatic but the main compli-cations are:

  • Intractable seizures
  • Severe developmental delay
  • Intracranial hypertension secondary to subependymal giant cell astrocytomas
  • Enlarging renal angiomyolipomas and haematuria
  • Cystic lung disease (lymphangiomyomatosis) in women

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