Tuberous sclerosis complex (TSC): diagnostic criteria

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Tuberous sclerosis complex (TSC): diagnostic criteria. Hypomelanotic macules: ≥3 which are >5mm in diameter. Fully referenced neurology checklist.

Major criteria

  • Hypomelanotic macules: ≥3 which are >5mm in diameter
  • Angiofibromas or fibrous cephalic plaque: ≥3
  • Ungual fibromas: ≥2
  • Shagren patch
  • Retinal hamartomas: multiple
  • Cortical tubers or radial migration lines: multiple
  • Subependymal nodules: ≥2
  • Subependymal giant cell astrocytoma (SEGA)
  • Cardiac rhabdomyoma
  • Lymphangioleiomyomatosis (LAM)
  • Angiomyolipomas: ≥2

Minor criteria

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Definite diagnosis

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Possible diagnosis

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References

  1. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015; 14:733-745.
  2. Northrup H, Aronow ME, Bebin EM, et al. Updated International Tuberous Sclerosis Complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol 2021; 123:50-66.

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