Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated