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Our Team
[Aqueductal stenosis in the neurofibromatosis type 1. Presentation of 19 infantile patients].
[hydrocephalus with stenosis of the aqueduct of sylvius]
To
present
a
series
of
infantile
patients
with
aqueductal
stenosis
associated
with
neurofibromatosis
type
1
(
NF
1
)
.
Nineteen
patients
with
ages
below
16
years
,
11
girls
and
8
boys
,
with
NF
1
presented
hydrocephalus
due
to
aqueductal
stenosis
.
All
patients
,
except
one
who
died
before
the
imaging
study
was
performed
and
was
diagnosed
by
autopsy
,
were
studied
by
pneumoencephalography
(
since
1965
to
1974
)
,
computerized
tomography
(
CT
)
(
since
1975
to
1984
)
,
magnetic
resonance
(
MR
)
or
MR
and
CT
(
since
1985
to
2004
)
(
two
children
had
been
studied
by
pneumoencephalography
some
years
before
)
most
times
to
discard
optic
pathway
tumor
and
,
in
few
patients
,
because
of
intracranial
hypertension
.
All
patients
showed
three
ventricular
hydrocephalus
with
aqueductal
stenosis
.
Eleven
patients
showed
optic
pathway
tumor
.
One
patient
had
a
benign
aqueductal
tumor
that
impaired
the
normal
flow
of
cerebrospinal
fluid
.
Neurological
features
of
hydrocephalus
occurred
very
rapidly
in
some
patients
and
after
several
years
of
evolution
in
others
.
Two
boys
showed
precocious
puberty
.
All
patients
were
treated
with
shunt
.
In
our
series
,
aqueductal
stenosis
occurred
in
about
5
%
of
children
with
NF
1
.
Aqueductal
stenosis
and
hydrocephalus
were
identified
at
a
short
age
because
many
patients
were
studied
suspecting
optic
pathway
tumor
.
Eleven
patients
(
about
60
%
)
associated
optic
pathway
tumor
and
aqueductal
stenosis
.
Diseases
Validation
Diseases presenting
"hydrocephalus were identified at a short age because many patients were studied suspecting optic pathway tumor"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
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