Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Therapy of Sneddon syndrome.
[sneddon syndrome]
We
report
the
case
of
a
young
woman
with
progressive
cognitive
decline
and
epilepsy
.
She
showed
ischemic
cerebrovascular
disease
and
proximal
livedo
racemosa
.
Antiphospholipid
antibody
(
aPL
)
could
not
be
detected
and
there
were
no
microemboli
on
continuous
transcranial
Doppler
ultrasonography
monitoring
.
Histology
of
cerebral
vessels
showed
intimal
hyperplasia
in
small
leptomeningeal
venous
vessels
and
micronecrosis
of
grey
and
white
matter
.
We
subsequently
made
the
diagnosis
of
aPL-negative
Sneddon
Syndrome
(
SNS
)
.
Anticoagulation
with
warfarin
could
not
be
initiated
because
of
a
drug-resistant
epilepsy
with
the
risk
of
falls
and
subsequent
bleeding
;
immunosuppression
with
steroids
and
azathioprine
was
ineffective
,
as
was
initial
antiplatelet
therapy
with
clopidogrel
alone
.
However
,
when
we
intensified
antiplatelet
therapy
by
combining
clopidogrel
and
ASS
,
a
slowing
of
disease
progression
,
as
assessed
by
neuropsychological
testing
and
magnetic
resonance
imaging
,
was
noted
on
a
follow-up
after
6
months
.
Therapeutic
options
in
SNS
in
both
aPL-
positive
and
aPL-negative
patients
with
SNS
are
discussed
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated