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Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor.
[von hippel-lindau disease]
The
authors
described
a
case
of
a
patient
with
co
-existing
endolymphatic
sac
tumor
(
ELST
)
and
hemangioblastoma
in
the
posterior
cranial
fossa
,
which
belonged
to
a
subtype
of
Von
Hippel-
Lindau
(
VHL
)
disease
confirmed
by
the
test
of
VHL
-
gene
.
The
signs
in
this
42
-
year
-old
female
included
intermittent
headache
and
dizziness
.
Imaging
revealed
a
giant
mass
in
the
right
cerebellopontine
angle
(
CPA
)
region
and
another
lesion
in
the
left
cerebellar
hemisphere
.
The
results
of
biopsy
after
two
operations
confirmed
the
diagnosis
respectively
.
Both
of
the
tumors
were
resected
totally
.
Nevertheless
,
we
had
to
confess
the
misdiagnosis
as
vascular
tumor
instead
of
ELST
at
the
initial
diagnosis
because
of
the
rarity
of
ELST
associated
with
atypical
histological
characteristics
.
The
purposes
we
reported
this
case
were
to
describe
the
atypical
pathological
feature
of
ELST
and
the
mutation
of
germline
VHL
not
mentioned
in
previously
literature
,
furthermore
,
to
foster
understanding
of
ELSTs
with
the
avoidance
of
the
similar
misdiagnosis
as
far
as
possible
in
future
.
Diseases
Validation
Diseases presenting
"headache"
symptom
acute rheumatic fever
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cadasil
cushing syndrome
cutaneous mastocytosis
erdheim-chester disease
esophageal squamous cell carcinoma
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
locked-in syndrome
malignant atrophic papulosis
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
von hippel-lindau disease
This symptom has already been validated
