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[Vascular leukoencephalopathy in patients without vascular risk factor or NOTCH3 mutation: clinical and radiological findings].
[cadasil]
White
matter
lesions
seen
on
MR
scan
reflect
small
vessel
disease
of
the
brain
;
increasing
age
and
high
blood
pressure
are
the
main
risk
factors
.
In
young
patients
without
vascular
risk
factors
,
screening
for
CADASIL
mutation
has
to
be
done
.
Our
aim
was
to
describe
clinical
as
well
as
radiological
features
of
a
series
of
patients
without
NOTCH
3
mutation
with
severe
vascular
leukoencephalopathy
not
explained
by
the
presence
of
vascular
risk
factors
.
Inclusion
criteria
were
grade
3
leukoencephalopathy
according
to
the
Fazekas
scale
,
age
<
70
years
at
onset
,
and
negative
screening
for
NOTCH
3
gene
.
Patients
with
severe
vascular
risk
factors
or
atherosclerosis
were
excluded
.
Clinical
and
MRI
findings
were
analysed
.
Eight
patients
(
four
men
)
were
included
,
five
did
not
have
any
vascular
risk
factor
.
Mean
age
at
onset
was
59
.
5
years
.
Initial
symptoms
were
progressive
in
six
cases
of
eight
cases
.
They
consisted
of
astasia-
abasia
and
progressively
worsened
;
of
note
one
patient
died
4
years
after
disease
onset
.
Cerebral
MRI
disclosed
marked
atrophy
in
five
patients
out
of
eight
,
temporal
lobe
(
two
out
of
eight
)
and
external
capsule
(
five
out
of
eight
)
involvement
was
moderate
.
Four
patients
did
not
have
any
other
atherosclerosis
lesion
.
Seven
out
of
eight
had
no
retinal
microangiopathy
.
High
blood
pressure
was
identified
in
two
patients
.
The
identification
of
vascular
leukoencephalopathy
in
young
patients
without
any
vascular
risk
factors
should
lead
the
clinician
to
perform
a
complete
work-up
to
search
for
treatable
conditions
including
high
blood
pressure
.
Patients
with
vascular
leukoencephalopathy
usually
present
with
astasia-
abasia
.
In
this
context
,
cerebral
MRI
,
can
not
perfectly
discriminate
between
patients
with
CADASIL
from
those
with
acquired
small
-vessel
disease
of
the
brain
so
that
sequencing
of
NOTCH
3
gene
exons
2
-
24
is
recommended
.