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von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening.
[von hippel-lindau disease]
Endolymphatic
sac
tumours
(
ELSTs
)
of
the
inner
ear
occur
in
16
%
of
patients
with
the
hereditary
tumor
syndrome
von
Hippel-
Lindau
disease
(
vHL
)
.
ELSTs
of
all
sizes
can
cause
irreversible
hearing
loss
which
can
,
however
,
be
prevented
through
early
diagnosis
and
treatment
.
We
aim
to
emphasize
the
challenges
of
prophylactic
ELST
screening
and
to
explore
the
role
of
audiometry
in
pre-symptomatic
ELST
screening
.
F
or
a
period
of
17
years
our
patient
was
screened
for
ELSTs
with
inner-
ear
MRI
(
magnetic
resonance
imaging
)
,
audiometry
,
and
clinical
interviews
.
A
male
vHL
patient
who
became
deaf
in
one
ear
due
to
a
radiologically
undetectable
ELST
.
Despite
annual
MRIs
,
the
ELST
was
not
visible
until
four
months
after
onset
of
deafness
when
it
appeared
as
a
1
.
4
×
1
.
4
mm
tumor
mass
.
Although
his
hearing
was
objectively
within
normal
limits
for
the
first
14
years
,
a
distinct
pattern
of
low-frequency
hearing
loss
could
retrospectively
be
seen
at
all
audiometries
.
Audiometry
is
a
candidate
screening
tool
for
detection
of
non-symptomatic
pre-
MRI-visible
ELSTs
,
and
we
have
initiated
an
international
collaborative
study
to
further
determine
its
application
.
At
present
,
we
suggest
an
ELST
screening
protocol
of
yearly
audiological
assessment
and
inner
ear
MRI
.
Diseases
Validation
Diseases presenting
"a radiologically undetectable elst"
symptom
von hippel-lindau disease
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