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Diffusion-weighted MR imaging in leukodystrophies.
[adrenomyeloneuropathy]
Leukodystrophies
are
genetically
determined
metabolic
diseases
,
in
which
the
underlying
biochemical
abnormality
interferes
with
the
normal
build-up
and
/
or
maintenance
of
myelin
,
which
leads
to
hypo-
(
or
arrested
)
myelination
,
or
dysmyelination
with
resultant
demyelination
.
Although
conventional
magnetic
resonance
imaging
has
significantly
contributed
to
recent
progress
in
the
diagnostic
work-up
of
these
diseases
,
diffusion-weighted
imaging
has
the
potential
to
further
improve
our
understanding
of
underlying
pathological
processes
and
their
dynamics
through
the
assessment
of
normal
and
abnormal
diffusion
properties
of
cerebral
white
matter
.
Evaluation
of
conventional
diffusion-weighted
and
ADC
map
images
allows
the
detection
of
major
diffusion
abnormalities
and
the
identification
of
various
edema
types
,
of
which
the
so
-called
myelin
edema
is
particularly
relevant
to
leukodystrophies
.
Depending
on
the
nature
of
histopathological
changes
,
stage
and
progression
gradient
of
diseases
,
various
diffusion-weighted
imaging
patterns
may
be
seen
in
leukodystrophies
.
Absent
or
low
-grade
myelin
edema
is
found
in
mucopolysaccharidoses
,
GM
gangliosidoses
,
Zellweger
disease
,
adrenomyeloneuropathy
,
L-
2
-
hydroxyglutaric
aciduria
,
non-
ketotic
hyperglycinemia
,
classical
phenylketonuria
,
Van
der
Knaap
disease
and
the
vanishing
white
matter
,
medium
grade
myelin
edema
in
metachromatic
leukodystrophy
,
X-
linked
adrenoleukodystrophy
and
HMG
coenzyme
lyase
deficiency
and
high
grade
edema
in
Krabbe
disease
,
Canavan
disease
,
hyperhomocystinemias
,
maple
syrup
urine
disease
and
leukodystrophy
with
brainstem
and
spinal
cord
involvement
and
high
lactate
.
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