173 - Neurofibromatosis ( NF1 and NF2 ) diagnosis

A. Diagnostic criteria for the diagnosis of Neurofibromatosis type 1 ( NF1 ) are :

1. Presence of 2 or more cafe au lait spots of size greater than 5 mm if the patient is prepubertal or greater than 15 mm of size, if the patient is post pubertal .

2. Presence of 2 or more of the general neurofibromas or even a single plexiform neurofibroma .

3. axillary or inguinal freckling

4. Optic nerve glioma

5. 2 or more lisch nodules ( iris hamartomas )

6. sphenoid wing dysplasia or cortical thinning of the long bones with or without pseudoarthrosis.

7. A close relative ( parent, sibling or child ) affected by neurofibromatosis type 1 according to the above described diagnostic criteria .

PRESENCE OF ATLEAST 2 OF THE ABOVE 7 CRITERIA CONFIRMS THE DIAGNOSIS OF NEUROFIBROMATOSIS TYPE 1 ( 17th chromosome ) .

B. Diagnostic criteria for the diagnosis of Neurofibromatosis type 2 :

1. Presence of bilateral eigth cranial nerve masses confirmed by imaging studies ( CT, MRI etc )

2. A close relative ( parent, child or sibling ) affected by the same disease and presence of unilateral eigth cranial nerve mass or presence of any 2 of the following : neurofibroma, meningioma, glioma, schwannoma or posterior subcapsular lenticular opacity

PRESENCE OF EITHER OF THE TWO CRITERIA DESCRIBED ABOVE CONFIRMS THE DIAGNOSIS OF NEUROFIBROMATOSIS TYPE 2 ( 22 chromosome ).