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(18)F-FDG positron emission tomography/computed tomography and (99m)Tc-MDP skeletal scintigraphy in a case of Erdheim-Chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
,
first
described
by
Jakob
Erdheim
and
William
Chester
in
1930
,
is
a
rare
form
of
non-
Langerhan
's
cell
histiocytosis
with
unknown
aetiology
,
is
charaterized
by
systemic
xanthogranulomatous
infiltrative
disease
.
To
date
,
about
350
cases
of
ECD
have
been
described
in
the
medical
literature
.
The
typical
ECD
diagnostic
triad
is
bone
pain
,
diabetes
insipidus
and
bilateral
exophthalmos
.
A
24
years
old
man
came
at
our
attention
for
polydipsia
with
nocturnal
and
diurnal
polyuria
,
anorexia
,
febrile
episodes
(
38
(
o
)
C
)
,
and
arthromyalgia
especially
in
the
knees
.
Physical
examination
showed
bilateral
periorbital
xanthelasma
.
Blood
exams
showed
increase
of
plasma
osmolarity
,
haematocrit
,
sodium
and
urea
and
decrease
of
potassium
.
Urine
exams
showed
just
decreased
urine
specific
gravity
,
(
1
.
001
;
normal
range
:
1
.
010
-
1
.
030
)
suggestive
for
central
diabetes
insipidus
(
CDI
)
.
Brain
magnetic
resonance
with
gadolinium
enhancement
showed
the
presence
of
multiple
hyperintense
lesions
expecially
in
neurohypophysis
(
swollen
and
with
markedly
contrast
enhancement
)
.
All
these
data
raised
the
suspision
of
neurosarcoidosis
,
so
a
chest
and
abdomen
contrast
enhancement
computed
tomography
was
performed
,
which
did
n't
show
abnormalities
,
making
less
possible
the
diagnosis
of
sarcoidosis
.
Two
weeks
later
,
whole-body
(
from
head
to
pelvis
)
plus
lower
limbs
18
-
fluorine-labelled
2
-
deoxy-
2
-
fluoro-
D-
glucose
positron
emission
tomography
/
computed
tomography
(
(
18
)
F-FDG
PET
/
CT
)
was
performed
.
Uptake
of
(
18
)
F-FDG
was
observed
in
the
upper
portion
of
the
midbrain
area
(
SUV
(
max
)
7
.
1
)
and
the
pituitary
gland
(
SUV
(
max
)
7
.
3
)
,
and
diffuse
bone
marrow
uptake
of
(
18
)
F-FDG
in
the
proximal
epiphysis
and
metaphysis
of
both
humeri
and
thigh
bones
(
SUV
(
max
)
6
.
5
)
,
shoulder
blades
,
pelvis
bones
and
the
L
2
vertebral
body
(
SUV
(
max
)
3
.
9
)
.
This
(
18
)
F-FDG
PET
/
CT
confirmed
the
presence
of
brain
lesion
seen
in
MRI
,
the
absence
of
visceral
lesions
,
but
also
showed
the
presence
of
an
atypical
bone
uptake
of
(
18
)
F-FDG
,
leading
to
the
suspision
of
ECD
.
A
technetium-
99
m-methyl-diphosphonate
skeletal
scintigraphy
(
(
99
m
)
Tc-
MDP
)
scan
showed
diffuse
uptake
of
the
radiopharmaceutical
,
in
the
diaphysis
of
long
bones
and
in
the
left
portion
of
the
body
and
the
spinous
process
of
L
2
.
Considering
the
difficulties
of
an
osteomedullary
or
brain
biopsy
,
biopsy
was
performed
on
a
right
anterior
thoracic
cutaneous
xanthelasma
.
Histology
showed
lipid-laden
histiocytes
(
CD
1
a-
,
CD
68
+
,
S-
100
protein
-
)
with
small
nuclei
,
Touton
giant
,
lymphocytic
infiltrates
,
eosinophils
and
fibrosis
,
ECD
gold
standard
patterns
as
reported
in
literature
.
The
patient
was
discharged
with
the
diagnosis
of
ECD
with
central
nervous
system
(
CNS
)
manifestations
,
and
treatment
started
.
The
diagnosis
can
be
lead
by
the
most
charateristic
bone
findings
of
symmetrical
osteosclerosis
of
the
long
bones
,
especially
the
lower
limbs
(
tibia
and
fibula
)
,
involving
metaphyses
and
diaphyses
but
sparing
epiphyses
.
The
typical
pattern
of
osteoscerosis
of
the
long
bones
reflects
increased
osteoblastic
activity
.
About
half
of
all
ECD
patients
may
experience
extraskeletal
manifestations
,
including
CNS
.
Visceral
involvement
in
ECD
is
not
specific
,
and
this
enforces
the
diagnostic
value
of
skeletal
imaging
findings
.
Furthermore
xanthomas
can
be
found
at
any
location
on
the
skin
,
especially
the
eyelids
as
in
our
patient
.
For
visceral
involvement
,
CT
is
most
useful
,
while
MRI
is
more
sensitive
for
CNS
lesions
.
Involvement
of
CNS
may
be
frequently
revealed
clinically
by
diabetes
insipidus
.
Few
case
reports
have
shown
that
(
18
)
F-FDG
PET
/
CT
scanning
could
be
useful
in
assessing
the
extension
of
ECD
lesions
.
Both
radiography
and
(
99
m
)
Tc-
MDP
skeletal
scintigraphy
may
reveal
osteosclerosis
of
the
long
bones
,
which
is
a
typical
finding
in
ECD
.
The
typical
bone
pattern
of
(
18
)
F-FDG
PET
/
CT
scan
is
specific
for
ECD
and
(
99
m
)
Tc-
MDP
skeletal
scintigraphy
may
be
performed
in
patients
in
whom
initial
(
18
)
F-FDG
PET
/
CT
scans
present
the
possibility
of
ECD
diagnosis
.
Others
reported
that
(
18
)
F-FDG
PET
/
CT
scans
had
good
sensitivity
(
66
.
7
%
)
and
specificity
(
92
.
3
%
)
as
compared
with
MRI
of
the
CNS
involvement
or
lesions
.
In
conclusion
,
the
(
18
)
F-FDG
PET
/
CT
scan
and
the
(
99
m
)
Tc-
MDP
scan
depicted
many
of
the
most
relevant
lesions
of
ECD
for
the
initial
assessment
of
ECD
in
our
patient
.
Diseases
Validation
Diseases presenting
"xanthelasma"
symptom
erdheim-chester disease
This symptom has already been validated