Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Lysosomal storage disease.
[gm1 gangliosidosis]
We
report
a
case
of
lysosomal
storage
disease
diagnosed
by
lysosomal
enzyme
assay
in
a
two
year
old
boy
with
a
history
of
gradual
onset
of
weakness
of
body
,
poor
vision
,
flaccid
neck
and
spasticity
in
all
four
limbs
with
hyper-reflexia
.
On
fundus
examination
cherry
red
spots
were
noted
at
macula
.
On
performing
lysosomal
enzyme
assay
,
beta
-galactosidase
level
was
considerably
low
.
This
indicates
that
the
child
is
affected
by
lysosomal
storage
disease
most
likely
GM
1
gangliosidosis
.
The
diagnosis
is
important
because
the
disease
is
rare
and
it
may
be
missed
as
the
symptoms
are
similar
to
other
neurological
conditions
and
the
diagnosis
can
help
with
future
conception
.
Diseases
Validation
Diseases presenting
"spasticity"
symptom
adrenomyeloneuropathy
alexander disease
congenital toxoplasmosis
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
lamellar ichthyosis
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated