Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Clinical variability of the cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in two siblings of a large family showing the same mutation.
[cadasil]
A
44
-
year
-old
Albanian
male
was
consulted
and
diagnosed
with
dementia
.
His
magnetic
resonance
imaging
suggested
diffuse
white
matter
changes
.
The
suspicion
of
cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
was
raised
,
and
a
genetic
analysis
confirmed
such
a
suspicion
through
uncovering
a
pathogenic
mutation
at
the
level
of
exon
4
(
c
.
475
C
>
T
)
of
chromosome
19
.
The
patient
came
from
a
large
family
of
13
children
,
all
of
whom
underwent
clinical
,
genetic
,
and
imaging
examination
.
The
pathogenic
mutation
was
found
present
only
in
his
eldest
sister
(
50
years
old
)
,
and
she
presented
also
very
suggestive
signs
of
CADASIL
in
her
respective
imaging
study
,
but
without
any
clinically
significant
counterpart
.
All
other
siblings
were
free
from
clinical
and
radiological
signs
of
the
disorder
.
Our
opinion
was
that
we
were
dealing
with
a
mutation
showing
a
very
low
level
of
penetrance
,
with
only
two
siblings
affected
in
a
large
Albanian
family
with
13
children
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated