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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
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated