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Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?
[zellweger syndrome]
Zellweger
spectrum
disorder
,
resulting
from
mutations
in
the
peroxisome
assembly
mechanism
,
is
genetically
heterogeneous
and
phenotypically
varied
in
disease
characteristics
and
severity
.
In
addition
to
manifesting
gyration
anomalies
,
affected
individuals
typically
have
white
matter
abnormalities
ranging
from
hypomyelination
in
infancy
to
a
more
diffuse
demyelinating
leukoencephalopathy
pattern
in
those
surviving
into
childhood
.
Here
we
report
a
unique
presentation
in
a
2
/
-
year
-boy
with
acute
neurological
deterioration
and
MRI
demonstrating
avid
contrast
enhancement
suggesting
inflammatory
demyelination
in
the
brainstem
.
Diseases
Validation
Diseases presenting
"is genetically heterogeneous and phenotypically varied in disease characteristics and severity"
symptom
zellweger syndrome
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