What is the focus of the clinical history for the evaluation of tuberous sclerosis complex (TSC)?

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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History should focus upon identification of specific signs and symptoms suggestive of or consistent with TSC. Particular symptoms occur at various points in the life span, and this serves as a framework for history taking.

  • Cardiac involvement is maximal in prenatal life or infancy.

  • Seizures, autism, and developmental delays present in infancy or childhood. Seizures are often not intractable, and many adult patients may no longer suffer from them or require anticonvulsants. Many will have been told that they had febrile convulsions or an age-related epilepsy syndrome.

  • Cutaneous manifestations such as ash leaf macules are often present from birth but frequently are unrecognized. More obvious lesions such as angiofibromas or shagreen patches usually appear in childhood to early adolescence.

  • Renal lesions can present as hypertension and renal failure in the case of polycystic kidney disease, usually in infancy or early childhood. AMLs manifest as flank pain, hematuria/retroperitoneal hemorrhage, or abdominal masses from childhood throughout adult life.

  • Pulmonary involvement typically occurs in the second or third decade, with dyspnea, pneumothorax, or chylothorax. It often is misdiagnosed as emphysema, particularly in those with a history of smoking.

  • Persons with dental involvement may have had their teeth sealed or bonded for pitting, or a gingival fibroma resected.

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