Rare Diseases Symptoms Automatic Extraction
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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
"recurrent episodes"
symptom
acute rheumatic fever
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
child syndrome
cholangiocarcinoma
cystinuria
familial mediterranean fever
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
systemic capillary leak syndrome
triple a syndrome
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