Rare Diseases Symptoms Automatic Extraction
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SPECT myocardial perfusion in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
a
rare
hereditary
small
vessel
disease
.
Although
the
symptoms
are
exclusively
neurological
,
arteriopathy
is
generalized
.
We
performed
cardiac
evaluation
using
myocardial
perfusion
single
photon
emission
computed
tomography
(
SPECT
)
,
dual-source
128
-
channel
multidetector
computed
tomography
(
MDCT
)
angiogram
,
echocardiogram
,
and
electrocardiogram
(
ECG
)
in
a
46
-
year
-old
woman
with
CADASIL
.
No
abnormal
findings
were
observed
on
MDCT
angiogram
,
echocardiogram
,
or
ECG
.
However
,
SPECT
demonstrated
reversible
perfusion
defects
in
the
left
anterior
descending
artery
territory
.
We
suggest
that
myocardial
perfusion
SPECT
is
a
valuable
tool
to
identify
risk
from
cardiovascular
accident
in
CADASIL
patients
.
Diseases
Validation
Diseases presenting
"leukoencephalopathy"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
epidermolysis bullosa simplex
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated