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Magnetic resonance findings in leucodystrophies and MS.
[alexander disease]
White
matter
diseases
are
a
frequent
diagnosis
problem
in
adult
patients
.
They
are
divided
into
leucodystrophy
,
defined
by
abnormal
white
matter
from
the
beginning
,
and
leucoencephalopathy
,
with
an
initial
normal
white
matter
.
In
addition
,
two
different
natures
have
to
be
considered
:
vascular
and
non-
vascular
.
Vascular
diseases
are
mainly
acquired
and
related
to
atherosclerosis
.
Genetic
vascular
disorders
are
mostly
secondary
to
Notch
3
mutations
,
defined
as
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leucoencephalopathy
(
CADASIL
)
.
Occurrence
of
leucoaraiosis
and
lacunae
on
T
2
sequences
,
and
microbleeds
on
Gradient
Echo
sequences
,
strongly
suggest
this
diagnosis
.
Some
magnetic
resonance
(
MR
)
patterns
can
help
to
identify
genetic
leucodystrophies
,
such
as
childhood
ataxia
with
central
nervous
system
hypomyelination
/
leucoencephalopathy
with
vanishing
white
matter
disease
(
progressive
rarefaction
and
cystic
degeneration
of
the
affected
white
matter
,
replaced
by
water
)
;
Alexander
disease
(
hypointense
signals
on
T
2
sequences
involving
grey
matter
,
brainstem
and
cervical
cord
,
with
marked
atrophy
)
;
megalencephalic
leucoencephalopathy
with
subcortical
cysts
(
diffuse
,
symmetrical
white
matter
lesions
,
with
constant
frontoparietal
and
anterotemporal
subcortical
cysts
)
;
leucoencephalopathy
with
brainstem
and
spinal
cord
involvement
and
high
lactates
syndrome
(
extensive
demyelination
,
involvement
of
the
brainstem
,
i
.
e
.
cerebellar
peduncles
,
intraparenchymal
and
mesencephalic
trigeminal
nerves
and
spinal
cord
,
mainly
in
the
lateral
corticospinal
tracts
and
dorsal
columns
)
.
Half
of
the
genetic
adult
leucodystrophies
remain
without
any
precise
diagnosis
.
This
review
describes
MR
in
the
adult
leucoencephalopathies
and
in
multiple
sclerosis
(
MS
)
.
The
first
part
will
focus
on
MR
patterns
of
vascular
and
nonvascular
adult
leucoencephalopathies
,
the
second
part
on
MR
findings
in
MS
and
MS
-related
diseases
.
Specific
MR
patterns
in
both
diseases
will
be
summarized
and
compared
.
Diseases
Validation
Diseases presenting
"atherosclerosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alexander disease
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
erdheim-chester disease
familial mediterranean fever
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
inclusion body myositis
sneddon syndrome
werner syndrome
zellweger syndrome
This symptom has already been validated