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Canavan disease - unusual imaging features in a child with mild clinical presentation.
[canavan disease]
Canavan
disease
is
a
rare
hereditary
leukodystrophy
that
manifests
in
early
childhood
.
Associated
with
rapidly
progressive
clinical
deterioration
,
it
usually
results
in
death
by
the
third
year
of
life
.
The
predominant
MRI
appearance
is
diffuse
and
symmetrical
white
matter
disease
.
We
discuss
an
atypical
,
late
presentation
of
Canavan
disease
with
a
benign
clinical
course
and
uncharacteristic
imaging
features
.
This
case
introduces
a
previously
unreported
pattern
of
diffuse
cortical
abnormality
without
significant
white
matter
involvement
.
Diseases
Validation
Diseases presenting
"rare hereditary leukodystrophy"
symptom
canavan disease
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