Rare Diseases Symptoms Automatic Extraction
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Optic nerve enlargement in infantile form of Krabbe disease.
[krabbe disease]
Krabbe
disease
(
KD
)
is
an
autosomal
recessive
lysosomal
storage
disorder
caused
by
dysfunctional
galactosylceramidase
activity
.
Infantile
form
is
the
most
common
subtype
,
occurring
at
about
6
-
month
of
age
.
We
present
a
rare
case
of
infantile
KD
with
magnetic
resonance
imaging
showing
white
matter
,
thalamic
and
basal
ganglia
lesions
rarely
associated
with
an
enlargement
of
the
optic
nerves
bilaterally
.
Diseases
Validation
Diseases presenting
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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