Tuberous sclerosis

결절 경화증(Tuberous sclerosis, TS)는 여러 장기에 tumor들이 발생하는 Neurocutaneous syndrome이다.

임상 양상

• sporadic > AD 유전,
  • TSC1 gene (chromosome 9), TSC2 gene (chromosome 6, accounts for most cases)
• Triad: seizures, intellectual disability, adenoma sebaceum:
• 기타: facial angiofibroma.

Image findings

• Brain
  • subependymal hamartoma: foramen of Monro 후방, caudate nucleus 주변, calcification+
    • 커지면 SEGA(subependymal giant cell astrocytoma)
  • cortical/subcortical tuber (T1↓, T2↑) ±calcification
  • white matter abnormalities: variable appearance, radial band, calcification
• Other systems
  • retinal hamartoma
  • renal AML (80%), multiple renal cysts, RCC, oncocytomas
  • cardiac rhabdomyoma, aorta aneurysm
  • pulmonary LAM(lymphangioleiomyomatosis)
  • hepatic/pancreas adenoma, splenic tumor
  • MSK: sclerotic bone lesions, hyperostosis of calvaria inner table, scoliosis, bone cysts

DDx

• subependymal heterotopia(vs subependymal hamartoma)
  • harmartoma가 좀더 irregular하고, ventricular wall과 수직방향으로 자라고 WM보다 iso- to hypo SI 보이고 enhancement 됨.