Syndromes

Question 2

Neurofibromatosis Type 1

• Inheritance
• Chromosome
• Incidence
• Malignant potential
• Treatment
• Associated tumors
• Associated clinical findings

Answer 2

• 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)

Question 3

Neurofibromatosis Type 2

• Inheritance
• Chromosome
• Incidence
• Malignant potential
• Treatment
• Associated tumors
• Associated clinical findings

Answer 3

• 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