Common conditions

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 intelligence
  • Increasing numbers are being diagnosed in adulthood.

 

Physical signs

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

 

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%]

 

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 complications 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