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CADASIL patient with extracellular calcium deposits.
[cadasil]
We
report
the
case
of
a
57
-
year
-old
male
patient
with
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
diagnosed
on
the
basis
of
ultrastructural
and
genetic
examinations
.
Ultrastructurally
,
granular
osmiophilic
material
(
GOM
)
deposits
,
degeneration
and
loss
of
vascular
smooth
muscle
cells
(
VSMC
)
and
pericytes
in
small
arterial
and
capillary
vessels
from
skin
-
muscle
biopsy
typical
of
CADASIL
were
visible
.
Degeneration
of
pericytes
and
endothelial
cells
were
often
pronounced
,
which
resulted
in
a
complete
disappearance
of
mural
cells
and
extremely
severe
thickening
of
the
basement
membrane
.
Degenerative
changes
in
blood
vessels
,
especially
evident
in
skeletal
muscle
arterioles
,
also
included
significant
vacuolization
of
VSMC
,
misshapen
nuclei
both
in
vessel
wall
cells
and
skeletal
muscle
fibres
,
and
deposits
of
a
hyaline
material
and
calcium
in
the
vessel
wall
.
Abundant
calcium
deposits
were
located
in
the
vascular
basement
membrane
and
exhibited
laminar
morphology
with
abnormally
arranged
light
and
dark
bands
.
In
the
basement
membrane
of
the
most
severely
affected
microvessels
,
only
clusters
of
calcium
deposits
and
remnants
of
the
mural
cells
were
observed
.
Laminar
calcifications
were
also
observed
within
the
basement
membrane
surrounding
skeletal
muscle
fibres
.
Such
abundant
calcium
deposits
in
CADASIL
have
not
as
yet
been
described
.
Morphological
findings
,
described
in
this
report
,
expand
the
spectrum
of
histopathological
changes
in
this
genetically
determined
angiopathy
.
Diseases
Validation
Diseases presenting
"especially evident in skeletal muscle arterioles"
symptom
cadasil
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