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Creutzfeldt-Jakob disease: a case report and differential diagnoses.
[cadasil]
Sporadic
Creutzfeldt-
Jakob
disease
is
a
rare
neurodegenerative
disorder
of
unknown
etiology
that
causes
rapidly
progressive
dementia
.
This
disease
is
uniformly
fatal
and
most
patients
die
within
12
months
.
Clinical
findings
include
myoclonus
,
visual
disturbances
,
and
cerebellar
and
pyramidal
/
extrapyramidal
signs
in
addition
to
rapidly
progressive
cognitive
and
functional
impairment
.
These
findings
are
all
non-
specific
and
it
is
often
difficult
and
challenging
to
diagnose
premortem
because
of
low
awareness
and
clinical
suspicion
.
We
present
a
66
-
year
-old
woman
with
a
5
-
month
history
of
rapidly
progressive
dementia
.
After
a
series
of
extensive
diagnostic
examinations
and
continuous
follow-up
,
she
was
diagnosed
with
probable
sporadic
Creutzfeldt-
Jakob
disease
based
on
Centers
for
Disease
Control
and
Prevention
(
CDC
)
criteria
,
with
key
findings
of
rapidly
progressive
dementia
,
blurry
vision
,
extrapyramidal
signs
(
cogwheel
rigidity
)
,
and
abnormal
hyperintensity
signals
on
diffusion-weighted
MRI
.
Her
symptoms
progressively
worsened
and
she
died
7
months
after
the
onset
.
The
postmortem
brain
autopsy
demonstrated
the
presence
of
abnormal
protease-resistant
prion
protein
by
Western
Blot
analysis
.
A
literature
review
was
performed
on
differential
diagnoses
that
present
with
rapidly
progressive
dementia
and
thereby
mimic
sporadic
Creutzfeldt-
Jakob
disease
.
These
include
Alzheimer
's
disease
,
dementia
with
Lewy
Bodies
,
frontotemporal
dementia
,
meningoencephalitis
,
corticobasal
degeneration
,
progressive
supranuclear
palsy
,
CADASIL
,
and
paraneoplastic
encephalomyelitis
.
Diseases
Validation
Diseases presenting
"blurry vision"
symptom
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