Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Adrenomyeloneuropathy.
[adrenomyeloneuropathy]
A
29
-
year
-old
male
patient
presented
with
progressive
spastic
paraparesis
of
three
years
duration
.
He
also
had
gait
ataxia
which
led
to
recurrent
falls
.
In
addition
,
there
was
pigmentation
of
the
skin
creases
,
tongue
and
buccal
mucosa
.
His
clinical
course
was
remarkable
by
recurrent
episodes
of
diarrhea
,
pulmonary
tuberculosis
.
The
investigatory
work
up
showed
a
normal
MRI
scan
of
the
brain
,
spinal
cord
and
normal
abdominal
structures
.
The
basal
serum
cortisol
levels
were
low
.
Adrenomyeloneuropathy
was
diagnosed
and
he
was
started
on
corticosteroid
supplementation
.
Mineralocorticoid
supplementation
also
is
planned
in
the
follow
up
.
The
case
is
being
presented
for
its
rarity
.
Diseases
Validation
Diseases presenting
"gait ataxia"
symptom
adrenomyeloneuropathy
homocystinuria without methylmalonic aciduria
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated