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An autopsy case of infantile GM1 gangliosidosis with adrenal calcification.
[gm1 gangliosidosis]
We
describe
an
autopsy
case
of
a
1
-
year
-old
male
baby
presenting
with
failure
to
gain
milestones
,
floppiness
,
and
reddish
skin
lesions
since
birth
.
Fundoscopic
examination
revealed
bilateral
cherry-
red
spots
in
the
macula
.
The
baby
died
of
respiratory
failure
and
autopsy
revealed
numerous
ballooned
neurons
and
astrocytes
with
cytoplasmic
storage
material
seen
throughout
central
white
matter
,
basal
ganglia
,
cerebellum
,
choroid
plexus
,
and
brain
stem
.
There
was
neuronal
degeneration
with
loss
of
myelin
in
central
white
matter
with
axonal
degeneration
as
well
.
The
storage
material
was
weakly
positive
with
PAS
and
oil
red
-
O
stains
.
Ultrastructurally
,
multilayered
lamellated
bodies
were
seen
within
the
ballooned
neurons
.
Biochemical
analysis
of
lysosomal
enzymes
done
in
leucocytes
revealed
β-galactosidase
deficiency
that
is
consistent
with
GM
1
gangliosidosis
.
Extensive
visceral
deposition
of
similar
material
was
also
seen
.
Remarkably
,
both
adrenals
revealed
extensive
medullary
calcification
,
which
has
not
been
reported
in
this
lysosomal
storage
disorder
,
to
the
best
of
our
knowledge
.
Diseases
Validation
Diseases presenting
"bilateral cherry-red spots in the macula"
symptom
gm1 gangliosidosis
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