Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"which has not been reported in this lysosomal storage disorder"
symptom
gm1 gangliosidosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom