Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Single-gene stroke disorders.
[hereditary cerebral hemorrhage with amyloidosis]
Monogenic
causes
of
stroke
are
rare
but
should
not
be
missed
by
the
neurologist
.
The
purpose
of
this
review
is
to
aid
the
reader
in
the
evaluation
of
a
patient
with
cryptogenic
stroke
with
or
without
a
family
history
suspicious
for
an
inherited
condition
.
The
clinical
findings
,
diagnosis
,
and
management
of
monogenic
causes
of
stroke
and
stroke
look-alikes
are
discussed
,
including
cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
,
Fabry
's
disease
,
vascular
Ehlers-
Danlos
,
Marfan
syndrome
,
sickle
cell
disease
,
the
thrombophilias
,
hereditary
hemorrhagic
telangiectasia
,
cerebral
cavernous
malformations
,
hereditary
cerebral
hemorrhage
with
amyloidosis
,
and
mitochondrial
encephalopathy
,
lactic
acidosis
,
and
strokelike
episodes
.
A
quick
review
of
systems
designed
to
screen
for
genetic
stroke
causes
is
presented
.
By
correlating
stroke
subtype
with
phenotype
,
this
review
will
familiarize
the
clinician
with
indications
for
focused
genetic
testing
in
appropriate
patients
.
Diseases
Validation
Diseases presenting
"hereditary hemorrhagic telangiectasia"
symptom
hereditary cerebral hemorrhage with amyloidosis
kallmann syndrome
malignant atrophic papulosis
waldenström macroglobulinemia
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