NF1

Question 1

List the NF1 Clinical Criteria for Diagnosis

Answer 1

2 or more of:

1. > 5 Cafe au lait macules
2. Axillary or inguinal freckling
3. > 2 neurofibromas or 1 plexiform neurofibroma
4. > 2 Lisch nodules
5. Optic glioma
6. Typical osseous lesions (sphenoid dysplasia or tibial pseudoarthrosis)
7. 1st degree relative with NF1

Question 2

How is NF1 inherited?

What proportion of mutations are de novo?

Answer 2

Autosomal dominant

50% de novo mutations

Question 3

How do you diagnose NF 1?

Answer 3

Clinically or with molecular testing

Question 4

Name 4 cardiac complications of NFI

Hint: think many types of HTN!

Answer 4

1. Essential hypertension
2. Pheochromocytoma
3. Renal artery stenosis
4. Coarctation of the aorta

Question 5

True or false: NF1 is associated with increased risk of scoliosis

Answer 5

True

Question 6

True or False: NF1 is associated with short stature and microcephaly

Answer 6

False: Short stature and MACROcephaly

Question 7

Name 2 neurologic/behavioural complications of NF1

Answer 7

1. Seizures

2. Learning disabilities