Rare Diseases Symptoms Automatic Extraction
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Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.
[cadasil]
Cerebral
autosomal-dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
has
always
been
considered
to
be
a
middle
-age-onset
disease
.
Diagnosis
is
confirmed
by
genetic
testing
and
the
finding
of
the
Notch
3
mutation
or
by
skin
biopsy
.
Imaging
plays
a
pivotal
and
crucial
role
in
confirming
this
diagnosis
by
identifying
white
matter
changes
early
in
the
disease
.
This
can
be
useful
in
screening
symptomatic
patients
with
a
family
history
of
the
disease
.
CADASIL
cases
have
been
reported
recently
in
children
.
We
report
our
experience
with
CADASIL
in
a
3
-
year
-old
boy
.
Diseases
Validation
Diseases presenting
"white matter changes"
symptom
alexander disease
cadasil
canavan disease
classical phenylketonuria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
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