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
.