Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"leukoencephalopathy"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
epidermolysis bullosa simplex
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated