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[Ischemic stroke in a young woman of Turner syndrome with T1-weighted imaging-pulvinar sign].
[fabry disease]
A
39
-
year
-old
woman
developed
right
hemiparesis
in
a
few
days
.
Magnetic
resonance
images
revealed
cerebral
infarction
in
the
territory
of
the
left
lenticulostriate
artery
,
and
MR
angiography
showed
severe
stenosis
of
the
middle
and
anterior
cerebral
arteries
and
moderate
one
of
the
vertebral
arteries
.
Bilateral
and
symmetric
T
1
hyperintensity
in
the
pulvinar
(
T
1
-
weighted
imaging-pulvinar
sign
;
"
T
1
pulvinar
sign
"
)
was
detected
,
which
is
recognized
as
a
key
imaging
of
Fabry
disease
.
The
α-galactosidase
A
gene
analysis
,
however
,
showed
no
mutation
.
Although
specific
physical
symptoms
were
solely
short
stature
and
oligomenorrhea
,
the
diagnosis
of
Turner
syndrome
was
confirmed
by
the
chromosome
analysis
which
showed
mosaicism
of
45
XO
and
46
X
,
r
(
X
)
(
60
%
:
40
%
)
.
To
our
knowledge
,
this
is
the
first
report
of
Turner
syndrome
with
"
T
1
pulvinar
sign
"
.
Diseases
Validation
Diseases presenting
"solely short stature"
symptom
fabry disease
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