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Tuberous Sclerosis

What are the symptoms?

Characteristic features include:

  • in the brain, calcified nodules and non-calcified swellings which show on a CAT or MRI scan
  • on the skin, hypomelanic (white) patches
  • on the face, a rash termed angiofibromatosis (previously called adenoma sebaceum)
  • on the forehead, fibrous plaque
  • on the lumbar area, a shagreen patch (thickened and discoloured skin)
  • in the kidney, angiomyolipomas (benign fatty growths) or cysts
  • in the heart, rhabdomyomas (benign growth of heart muscle).

Epileptic seizures occur in at least seventy-five per cent of cases and often start in the first year of life with characteristic infantile spasms. Some degree of learning difficulty (see entry, Learning Disability) occurs in about forty per cent of cases. Additionally, behaviour problems and autistic tendencies (see entry, Autism Spectrum disorders including Asperger syndrome) are very common features of the condition. However the severity and diversity of the presenting manifestations is very variable in individual cases. It is possible to have the condition but have very few symptoms or signs; or to be severely affected, for example with no speech, limited mobility and severe epilepsy, or anywhere in between.

View Background Background  |  Psychological and behavioural characteristics View Psychological and behavioural characteristics

Medical text written November 1991 by Contact a family. Approved November 1991 by Professor R Mueller, Consultant in Clinical Genetics, St James University Hospital, Leeds, UK. Last updated September 2006 by Professor J Sampson, Consultant in Clinical Genetics, Institute of Medical Genetics, Cardiff, UK.

 

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