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White Matter Edema at the Early Stage of Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
[cadasil]
Recently
,
in
a
mouse
model
of
cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
,
a
monogenic
cerebral
small
vessel
disease
,
intramyelinic
edema
was
detected
in
the
white
matter
(
WM
)
early
during
the
course
of
the
disease
.
We
hypothesized
that
if
this
mechanism
holds
true
in
patients
,
it
would
translate
in
larger
WM
volume
.
We
aimed
to
measure
WM
volume
in
patients
with
cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
in
comparison
with
age-
and
sex-matched
controls
,
along
with
the
ratio
of
cortical
surface
area
to
the
volume
of
brain
hemispheres
as
an
indirect
measure
that
should
be
reduced
in
patients
.
Twenty
patients
at
the
early
stage
of
the
disease
(
Mini
Mental
State
Examination
>
24
and
modified
Rankin
scale
≤
1
)
and
27
age-
and
sex-matched
controls
had
high
-quality
3
-
Tesla
3
DT
1
MRI
acquisitions
.
Volumes
of
brain
hemispheres
and
of
WM
were
determined
.
The
ratio
of
cortical
surface
area
to
the
volume
of
brain
hemispheres
was
evaluated
as
a
proxy
of
underlying
WM
volume
.
Patients
had
larger
volumes
of
WM
than
controls
(
patients
:
479
.
4
±
71
.
7
;
controls
:
463
.
9
±
44
.
2
;
P
=
0
.
03
)
.
They
presented
a
lower
cortical
surface
area
and
cortical
volume
leading
to
a
lower
ratio
of
cortical
surface
area
to
the
volume
of
brain
hemispheres
(
patients
:
15
.
7
±
0
.
7
;
controls
:
16
.
1
±
0
.
5
;
P
=
0
.
004
)
.
Volume
of
WM
tended
to
be
associated
with
that
of
WM
hyperintensities
(
P
=
0
.
06
)
.
Patients
with
cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
have
larger
WM
volume
than
age-
and
sex-matched
controls
,
a
finding
compatible
with
the
hypothesis
of
intramyelinic
edema
as
observed
recently
in
mice
.
Diseases
Validation
Diseases presenting
"edema"
symptom
acute rheumatic fever
adrenomyeloneuropathy
aniridia
cadasil
canavan disease
classical phenylketonuria
coats disease
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
erythropoietic protoporphyria
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
inclusion body myositis
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
pleomorphic liposarcoma
systemic capillary leak syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
This symptom has already been validated