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Acute encephalopathy as the initial manifestation of CADASIL.
[cadasil]
A
29
-
year
-old
right
-handed
G
1
P
1
Caucasian
woman
presented
with
acute
bifrontal
headache
(
which
resolved
within
1
day
)
,
confusion
,
and
difficulty
using
her
right
hand
on
postpartum
day
10
.
She
did
not
report
nausea
,
vomiting
,
or
visual
complaints
.
The
patient
was
previously
healthy
except
for
her
recent
preeclampsia
,
which
required
emergent
cesarean
section
.
On
examination
,
the
patient
was
afebrile
,
awake
,
alert
,
and
apathetic
.
She
was
able
to
follow
few
one
-step
midline
commands
(
e
.
g
.
,
eye
opening
and
closing
)
inconsistently
but
not
appendicular
commands
.
Her
neurologic
deficits
were
remarkable
for
expressive
aphasia
,
intermittent
receptive
aphasia
,
and
hyperreflexia
with
bilateral
extensor
plantar
responses
.
No
meningismus
or
other
focal
neurologic
deficits
were
present
.
Routine
laboratory
testing
including
urine
toxicology
screen
was
normal
.
C-
reactive
protein
was
23
mg
/
L
(
reference
range
:
<
5
mg
/
L
)
,
and
erythrocyte
sedimentation
rate
(
ESR
)
was
38
mm
/
h
(
reference
range
:
0
-
20
mm
/
h
)
.
Rheumatologic
panel
was
negative
.
Brain
MRI
showed
extensive
non-contrast-enhancing
T
2
/
fluid-attenuated
inversion
recovery
hyperintensities
involving
periventricular
and
deep
white
matter
,
especially
the
centrum
semiovale
,
corpus
callosum
,
bilateral
anterior
temporal
lobes
,
bilateral
caudate
nucleus
,
and
globus
pallidus
(
figure
,
A-C
)
.
No
evidence
of
acute
or
previous
stroke
was
found
.
CT
angiogram
and
venogram
revealed
no
cerebral
sinus
thrombosis
or
large
vessel
vasculitis
.
Lumbar
puncture
opening
pressure
was
18
.
5
cm
H
2
O
.
CSF
showed
normal
cell
counts
,
protein
,
and
glucose
levels
without
oligoclonal
bands
.
EEG
recorded
in
awake
,
drowsy
,
and
sleep
state
was
normal
.
Dilated
ophthalmic
examination
showed
no
microangiopathy
or
retinal
branch
arterial
occlusion
.
Audiologic
examination
was
normal
.
Diseases
Validation
Diseases presenting
"retinal branch arterial occlusion"
symptom
cadasil
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