Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation.
[hydrocephalus with stenosis of the aqueduct of sylvius]
By
review
of
a
series
of
cases
,
we
set
out
to
identify
sonographic
features
suggestive
of
an
obstructive
mechanism
in
second
-trimester
fetuses
with
ventriculomegaly
and
describe
developmental
disorders
related
to
pathological
differentiation
of
the
diencephalon
,
mesencephalon
and
rhombencephalon
that
lead
to
obstruction
of
cerebrospinal
fluid
flow
.
We
studied
retrospectively
11
fetuses
referred
for
severe
second
-trimester
ventriculomegaly
of
undetermined
origin
.
Neurosonography
was
performed
with
detailed
analysis
of
the
third
ventricle
,
thalami
,
cerebral
aqueduct
and
cerebellum
.
The
cerebral
imaging
data
were
compared
with
neuropathological
data
in
eight
patients
,
with
a
focus
on
the
level
and
etiology
of
the
obstruction
.
Parenchymal
thinning
and
reduction
of
the
pericerebral
spaces
were
highly
suggestive
of
ventriculomegaly
due
to
an
obstructive
mechanism
.
The
ventriculomegaly
was
related
to
diencephalosynapsis
(
thalamic
fusion
and
third
ventricle
atresia
)
in
five
cases
and
partial
/
complete
aqueduct
stenosis
in
six
;
it
was
associated
with
cerebellar
hypoplasia
in
six
cases
,
including
rhombencephalosynapsis
in
two
cases
.
In
nine
patients
,
disorders
of
the
diencephalon
,
mesencephalon
and
rhombencephalon
were
present
.
In
cases
of
severe
isolated
ventriculomegaly
in
which
sonographic
features
are
suggestive
of
an
obstructive
mechanism
,
close
examination
of
the
third
ventricle
,
thalami
,
aqueduct
of
Sylvius
and
cerebellum
may
reveal
pathological
differentiation
of
the
diencephalon
,
mesencephalon
or
rhombencephalon
,
often
in
combination
.
Diseases
Validation
Diseases presenting
"cerebellar hypoplasia"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
monosomy 21
pyruvate dehydrogenase deficiency
This symptom has already been validated
