neurofibromatosis

Question 1

define neurofibromatosis?

Answer 1

an autosomal dominant genetic disorder affecting cells of neural crest origin, resulting in the development of multiple neurocutaneous tumours

Question 2

what are the features of type 1 neurofibromatosis?

Answer 2

Characterised by: 
•	Peripheral and spinal neurofibromas 
•	Multiple café au lait spots  
•	Freckling (axillary/inguinal) 
•	Optic nerve glioma  
•	Lisch nodules (on iris)  
•	Skeletal deformities  
•	Phaeochromocytomas 
•	Renal artery stenosis

Question 3

what are the features of type 2 neurofibromatosis?

Answer 3

Characterised by: 
•	Schwannomas (often bilateral vestibular schwannomas) 
•	Meningiomas  
•	Gliomas  
•	Cataracts

Question 4

important presenting symptom for either type of neurofibromatosis?

Answer 4

• Positive family history

Question 5

presenting symptoms for type 1 neurofibromatosis ?

Answer 5

o Skin lesions
o Learning difficulties (40%)
o Headaches
o Disturbed vision (due to optic gliomas)
o Precocious puberty (due to lesions of the pituitary gland from an optic glioma involving the chiasm)

Question 6

presenting symptoms for type 2 neurofibromatosis ?

Answer 6

o	Hearing loss  
o	Tinnitus  
o	Balance problems  
o	Headache  
o	Facial pain 
o	Facial numbness

Question 7

major signs of type 1 neurofibromatosis?

Answer 7

o 5+ café au lait macules of > 15 mm (post-pubertal)
o Neurofibromas
o Freckling in armpit or groin
o Lisch nodules (hamartomas on the iris)
o Spinal scoliosis

Question 8

major signs of type 2 neurofibromatosis?

Answer 8

o Few or no skin lesions

o Sensorineural deafness

Question 9

investigations for neurofibromatosis?

Answer 9

• Ophthalmological assessment
• Audiometry
• MRI brain and spinal cord - for vestibular schwannomas, meningiomas and nerve root neurofibromas
• Skull X-ray
• Genetic testing