Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
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
"telangiectasia"
symptom
coats disease
cowden syndrome
cutaneous mastocytosis
hereditary cerebral hemorrhage with amyloidosis
kallmann syndrome
kindler syndrome
malignant atrophic papulosis
omenn syndrome
pendred syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
waldenström macroglobulinemia
werner syndrome
This symptom has already been validated