Syndromes Flashcards

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Q

Neurofibromatosis Type 1

  • Inheritance
  • Chromosome
  • Incidence
  • Malignant potential
  • Treatment
  • Associated tumors
  • Associated clinical findings
A
  • AD, diagnosed in childhood
  • Chromosome 17
  • 1:3000, type 1 most common (85%)
  • Malignant schwanoma in 5% of cases
  • Excision due to painful inpingement on nerve or comesis
  • Pheochromocytoma (10% rule), Wilms tumor (most common pediatric kidney cancer), optic glioma (CN II), malignant nerve sheath tumors (poor prognosis, 5 year survival 16%)
  • Cafe au lait (smooth), lisch nodules (iris hamartomas), Crowe sign (armpit freckles)
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3
Q

Neurofibromatosis Type 2

  • Inheritance
  • Chromosome
  • Incidence
  • Malignant potential
  • Treatment
  • Associated tumors
  • Associated clinical findings
A
  • AD, diagnosed in childhood
  • Chromosome 22 “Merlin gene”
  • Uncommon, type 1 most common (85%)
  • Min malignant transformation
  • Excision due to painful inpingement on nerve or comesis
  • Bilateral Acoustic Neuromas (actually schwanomas) (CN VIII), Meningiomas
  • Hearing loss, balance issues, vision loss
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