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Peroxisomal leukoencephalopathy.
[zellweger syndrome]
Peroxisomal
leukoencephalopathies
include
diseases
belonging
to
the
Zellweger
spectrum
and
the
rhizomelic
chondrodysplasia
punctata
spectrum
,
as
well
as
some
single
enzyme
defects
of
peroxisomal
β-oxidation
.
The
authors
present
information
on
the
clinical
and
diagnostic
approach
,
and
the
characteristics
of
brain
magnetic
resonance
imaging
(
MRI
)
in
these
diseases
.
MRIs
of
patients
belonging
to
the
Zellweger
spectrum
may
show
developmental
anomalies
and
regressive
changes
consisting
of
abnormal
cerebral
white
matter
.
Involvement
of
the
central
white
matter
of
the
cerebellar
hemispheres
is
frequently
seen
.
The
leukoencephalopathy
is
progressive
,
with
or
without
peripheral
nerve
involvement
,
in
patients
with
a
prolonged
course
of
the
disease
.
MRI
characteristics
in
the
severe
phenotype
of
rhizomelic
chondrodysplasia
punctata
include
supratentorial
white
matter
abnormalities
,
with
a
parietooccipital
predominance
.
Demyelinative
lesions
are
the
hallmark
of
the
cerebral
form
of
X-
linked
adrenoleukodystrophy
and
may
appear
in
a
similar
way
in
patients
with
adrenomyeloneuropathy
progressing
to
a
cerebral
form
.
The
diagnosis
of
a
peroxisomal
disorder
can
be
determined
by
a
battery
of
biochemical
assays
in
blood
and
/
or
urine
,
and
should
be
confirmed
in
cultured
fibroblasts
and
DNA
analysis
.
Treatment
of
the
peroxisomal
leukoencephalopathies
is
largely
symptomatic
,
except
for
boys
affected
by
the
cerebral
form
of
X-
linked
adrenoleukodystrophy
in
whom
a
bone
marrow
/
hematopoietic
stem
cell
transplant
can
be
lifesaving
,
at
least
in
the
early
stages
of
the
disease
.
Diseases
Validation
Diseases presenting
"leukoencephalopathy"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
epidermolysis bullosa simplex
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
