Evaluation of clinical diagnostic criteria for neurofibromatosis 2.
BACKGROUND
Four sets of clinical diagnostic criteria for neurofibromatosis 2 (NF2) have been developed by groups of expert clinicians, but sensitivity has never been formally assessed. The sets of criteria differ for people without bilateral vestibular schwannomas, which are pathognomonic for NF2.


OBJECTIVE
To empirically evaluate the four existing sets of clinical diagnostic criteria for NF2.


METHODS
The study was based on 163 of 403 people in the United Kingdom NF2 registry (41%) who presented without bilateral vestibular schwannomas. The authors applied the sets of criteria to each person at initial assessment and at the most recent clinical evaluation (mean +/- SE length of follow-up, 13 +/- 1 years).


RESULTS
In people with "definite NF2" and a negative family history of NF2, the 1987 US NIH and 1991 NIH criteria each identify 78% of people at the most recent clinical evaluation but 0% at initial assessment. The National Neurofibromatosis Foundation (NNFF) criteria and the Manchester criteria each identify higher proportions at both time points (NNFF criteria, 91% and 10%; Manchester criteria, 93% and 14%), but the proportions at initial assessment are still low.


CONCLUSIONS
None of the existing sets of criteria are adequate at initial assessment for diagnosing people who present without bilateral vestibular schwannomas as having NF2, particularly people with a negative family history of NF2. The authors recommend that a single, revised set of diagnostic criteria be devised to replace all of the existing sets of criteria.
Baser
M E
ME
Los Angeles, CA, USA. baser@earthlink.net
Friedman
J M
JM
Wallace
A J
AJ
Ramsden
R T
RT
Joe
H
H
Evans
D G R
DG
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D003627:Data Interpretation, Statistical; D003937:Diagnosis, Differential; D004428:Ear Neoplasms / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008579:Meningioma / Q000175:diagnosis / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009442:Neurilemmoma / Q000175:diagnosis / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000235:genetics; D012042:Registries; D006113:United Kingdom; D015837:Vestibular Diseases / Q000175:diagnosis / Q000235:genetics
D004247:DNA