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Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.
[x-linked adrenoleukodystrophy]
Peroxisomal
disorders
are
an
important
group
of
neurometabolic
diseases
.
The
clinical
presentation
is
varied
in
terms
of
age
of
onset
,
severity
,
and
different
neurological
symptoms
.
The
clinical
course
spans
from
death
in
infancy
,
rapid
functional
decline
,
slow
decline
on
long
-term
followup
,
to
apparent
stable
course
.
Leukoencephalopathy
and
developmental
anomalies
are
characteristic
findings
on
cerebral
MR
imaging
.
From
a
diagnostic
point
of
view
the
disorders
can
be
clinically
subdivided
into
four
broad
categories
:
(
1
)
the
Zellweger
spectrum
disorders
and
the
peroxisomal
ß-oxidation
disorders
,
(
2
)
the
rhizomelic
chondrodysplasia
punctata
spectrum
disorders
,
(
3
)
the
X-
linked
adrenoleukodystrophy
/
adrenomyeloneuropathy
complex
and
(
4
)
the
remaining
disorders
.
This
article
discusses
the
role
of
MRI
findings
in
the
clinical
approach
of
peroxisomal
disorders
with
neurological
disease
.
