OBJECTIVE: The diagnostic yield and therapeutic implications of brain
biopsy were determined in a series of 50 consecutive brain biopsies th
at were performed in 48 patients between 1990 and 1995 at The Johns Ho
pkins Hospital to assess progressive neurodegenerative disorders of un
clear origin. METHODS: Severely immunocompromised patients and patient
s undergoing biopsies for suspected neoplastic lesions were excluded f
rom this analysis. Before surgery, the patients had undergone extensiv
e laboratory and radiographic tests, including lumbar puncture (all 48
patients), electroencephalography (26 of 48 patients), magnetic reson
ance imaging (all 48 patients), and angiography (17 of 48 patients). D
espite the results of these studies, diagnoses could not be establishe
d, and thus, brain biopsies were undertaken. RESULTS: Only 10 of the 5
0 biopsies (44 open procedures and 6 stereotactic procedures) led to d
iagnoses, resulting in a diagnostic yield of 20%. An additional three
biopsies (6%) were only suggestive of diagnoses. The results of 33 bio
psies (66%) were abnormal but nonspecific, and the results of 4 (8%) w
ere normal. Minor complications associated with biopsy occurred in fiv
e cases (10%), and there were no deaths. Of the 10 patients whose biop
sies were diagnostic, only 4 underwent meaningful therapeutic interven
tion as a result of the procedure, resulting in an overall therapeutic
benefit in only 8% of all the cases. An analysis of patient subgroups
to elucidate a correlation with diagnostic biopsy revealed that patie
nts with focal magnetic resonance imaging findings had the highest lik
elihood of a diagnostic biopsy (odds ratio, 4.00). Electroencephalogra
phy and laboratory abnormalities were not predictive of a diagnostic b
iopsy. CONCLUSION: We conclude that the current diagnostic yield (20%)
of brain biopsy for progressive neurodegenerative disorders is lower
than that of earlier reports and that the therapeutic benefits of the
procedure are limited.