N E U R O C U T A N E O U S

Question 1

NF Type I clinical features

Answer 1

AD characterized by cafe au lait, neurofibromas, CNS tumors (gliomas, meningiomas), axillary or inguinal freckling, iris hamartomas (Lisch nodules), bony lesions. Complications include scoliosis, pheochromocytomas, optic nerve gliomas, RAS, and erosive bone defects. MSK mx include spinal deformity and congenital tibial dysplasia.

Question 2

NF Type II clinical features

Answer 2

AD disease. Bilateral acoustic neuromas, multiple meningiomas, cafe au last spots, neurofibromas (much less common than Type I) and cataracts.

Question 3

Features of NF that can present in both types

Answer 3

Seizures, MR, short height, macrocephalic

Question 4

What determines prognosis in NF

Answer 4

Type and number of tumors and their location.

Question 5

Clinical fx of tuberous sclerosis

Answer 5

AD that presents with cognitive impairment, epilepsy,