Rare Diseases Symptoms Automatic Extraction
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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
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated