Rare Diseases Symptoms Automatic Extraction
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MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.
[gm1 gangliosidosis]
Late
infantile
GM
1
gangliosidosis
is
a
rare
lysosomal
disorder
characterized
by
mental
deterioration
and
progressive
spastic
,
cerebellar
,
and
extrapyramidal
signs
,
without
facial
dysmorphisms
and
organomegaly
.
Neuroimaging
findings
have
been
reported
in
only
a
few
cases
.
Here
we
report
on
predominant
globus
pallidus
MR
signal-intensity
abnormalities
in
2
patients
with
the
late
infantile
form
of
GM
1
gangliosidosis
.