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DIAGNOSTIC CRITERIA 

Table 1:  Revised Diagnostic Criteria for Tuberous Sclerosis Complex

Major Features

  1. Facial angiofibromas or forehead plaque
  2. Non-traumatic ungual or periungual fibroma
  3. Hypomelanotic macules (more than three)
  4. Shagreen patch (connective tissue nevus)
  5. Multiple retinal nodular hamartomas
  6. Cortical tubera
  7. Subependymal nodule
  8. Subependymal giant cell astrocytoma
  9. Cardiac rhabdomyoma, single or multiple
  10. Lymphangiomyomatosisb
  11. Renal angiomyolipomab

Minor Features

  1. Multiple randomly distributed pits in dental enamel
  2. Hamartomatous rectal polypsc
  3. Bone cystsd
  4. Cerebral white matter migration lines a,d,e
  5. Gingival fibromas
  6. Non-renal hamartomac
  7. Retinal achromic patch
  8. "Confetti" skin lesions
  9. Multiple renal cystsc

Definite TSC: Either 2 major features or 1 major feature with 2 minor features

Probable TSC: One major feature and one minor feature

Possible TSC: Either 1 major feature or 2 or more minor features

KEY

a When cerebral cortical dysplasia and cerebral white matter migration tracts occur together, they should be counted as one rather than two features of TSC.

b When both lymphangiomyomatosis and renal angiomyolipomas are present, other features of TSC should be present before a definitive diagnosis is assigned.

c Histologic confirmation is suggested.

d Radiographic confirmation is sufficient.

e One panel member recommended three or more radial migration lines consitute a major feature.


 
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