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MRI as diagnostic tool in early-onset peroxisomal disorders.
[neonatal adrenoleukodystrophy]
Peroxisomal
blood
tests
are
generally
considered
to
be
conclusive
.
We
observed
several
patients
with
a
clinical
and
MRI
phenotype
suggestive
of
an
infantile
onset
peroxisomal
defect
,
but
no
convincing
abnormalities
in
initial
peroxisomal
blood
tests
.
Brain
MRI
showed
typical
abnormalities
as
observed
in
the
neonatal
adrenoleukodystrophy
variant
of
infantile
peroxisomal
disorders
.
Our
aim
was
to
evaluate
the
accuracy
of
this
MRI
diagnosis
with
further
peroxisomal
testing
.
We
searched
our
database
of
unclassified
leukoencephalopathies
and
found
6
such
patients
.
We
collected
clinical
data
and
scored
available
MRIs
of
these
patients
.
We
performed
further
peroxisomal
studies
in
fibroblasts
,
including
immunofluorescence
microscopy
analysis
with
antibodies
against
catalase
,
a
peroxisomal
matrix
enzyme
.
We
performed
complementation
analysis
and
analyzed
the
suspected
genes
.
We
confirmed
the
diagnosis
of
Zellweger
spectrum
disorder
in
3
patients
and
D-
bifunctional
protein
deficiency
in
the
others
.
The
clinical
findings
were
within
the
spectrum
known
for
these
diagnoses
.
Sequential
MRIs
showed
that
the
abnormalities
started
in
the
hilus
of
the
dentate
nucleus
and
superior
cerebellar
peduncles
.
Subsequently
,
the
cerebellar
white
matter
and
brainstem
tracts
were
affected
,
followed
by
the
parieto-
occipital
white
matter
,
splenium
of
the
corpus
callosum
,
and
posterior
limb
of
the
internal
capsule
.
Eventually
,
all
cerebral
white
matter
became
abnormal
.
The
thalamus
was
typically
affected
as
well
.
If
MRI
reveals
abnormalities
suggestive
of
infantile
onset
peroxisomal
defects
,
negative
peroxisomal
blood
tests
do
not
exclude
the
diagnosis
.
Further
tests
in
fibroblasts
should
be
performed
,
most
importantly
immunofluorescence
microscopy
analysis
with
antibodies
against
catalase
to
stain
peroxisomes
.
Diseases
Validation
Diseases presenting
"limb of the internal capsule"
symptom
22q11.2 deletion syndrome
neonatal adrenoleukodystrophy
zellweger syndrome
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