Neurofibromatosis

Question 1

What is the diagnostic criteria for Neurofibromatosis Type 1?

Answer 1

Mnemonic: CAFE SPOT (At least 2 of the 7 criteria)

1 ) 6 or more Cafe au lait spots

• >5mm in child less than 10 years old
• >15mm in adult
  2) Axillary or inguinal freckles
  3) Two or more neuroFibromas or 1 plexiform neurofibroma
  4) Eye harmatomas (Lisch nodules - at least 2)
  5) Skeletal abnormalities
  6) Positive family history
  7) Optic Tumour i.e glioma

Question 2

What is the diagnostic criteria for NF2 patients?

Answer 2

At least one of the following:

1) Bilateral 8th nerve masses on MRI
2) First degree relative with NF2 and patient has a unilateral 8th nerve mass AND/OR any 2 of the following:
- Meningioma
- Glioma
- Schwannoma
- Neurofibroma
- Juvenile cataracts
3) First degree relative with NF2 and patient has multiple meningiomas + unilateral 8th nerve mass OR any 2 of the following:
- Glioma
- Schwannoma
- Neurofibroma
- Juvenile cataracts

Question 3

Give 4 skin manifestations of neurofibromatosis type 1

Answer 3

Cafe-au-lait spots

Neurofibromas

Axillary or inguinal freckles

Hypopigmented macules

More campbell De morgan spots than normal population

Juvenile xanthogranulomas

Question 4

What investigations are important for NF Type 1?

Answer 4

Opthalmological assessment - slit lamp examination + fundoscopy (observe for optic glioma causing papilloedema)

Dermatological assessment - assess for any more cafe au lait spots

Skeletal assessment - X-ray tibia etc (for bone dysplasia)

Cardiovascular assessment - listen for murmurs/echo if present

Developmental assessment - most children have lower IQ than normal kids