Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Spontaneous cerebellar hemorrhage associated with a novel Notch3 mutation.
[cadasil]
A
55
-
year
-old
woman
with
no
significant
medical
history
presented
with
an
acute
onset
severe
headache
.
A
non-enhanced
CT
scan
of
the
head
revealed
a
right
cerebellar
hemorrhage
.
Investigation
for
etiology
of
the
hemorrhage
included
an
MRI
showing
extensive
subcortical
ischemic
disease
and
also
several
previous
microbleeds
.
The
MRI
appearance
and
absence
of
any
other
etiology
for
hemorrhage
prompted
work
up
for
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
.
She
was
found
to
have
a
guanosine
to
thymidine
transversion
at
nucleotide
position
1336
,
codon
position
420
,
resulting
in
a
glycine
>
cysteine
substitution
interpreted
as
"
predicted
CADASIL
-associated
mutation
"
.
To
our
knowledge
,
this
mutation
has
not
yet
been
reported
in
association
with
CADASIL
.
Diseases
Validation
Diseases presenting
"acute onset"
symptom
alexander disease
benign recurrent intrahepatic cholestasis
cadasil
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
neuralgic amyotrophy
pyomyositis
pyruvate dehydrogenase deficiency
thoracic outlet syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom