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[Partial regression of CNS lesions of Erdheim-Chester disease after treatment with 2-chlorodeoxadenosine and their full remission following treatment with lenalidomide].
[erdheim-chester disease]
Erdheim-
Chester
disease
is
a
very
rare
syndrome
affecting
adult
population
.
It
typically
causes
hyperostosis
of
long
bones
,
retroperitoneal
fibrosis
and
widening
of
the
aortic
wall
.
Patients
frequently
suffer
from
disease-associated
fevers
and
pain
in
the
lower
limbs
.
No
guidelines
are
available
for
the
treatment
of
this
rare
ailment
.
Therefore
,
we
describe
our
experience
with
lenalidomide
in
a
patient
with
poor
treatment
response
to
2
-
chlorodeoxyadenosine
.
Diabetes
insipidus
and
neurological
problems
developing
over
4
years
were
the
first
signs
of
the
disease
.
The
disease
was
diagnosed
from
histology
of
the
bone
marrow
extracted
from
the
ilium
.
At
diagnosis
,
the
patient
had
multiple
infiltrates
in
the
brain
,
widened
wall
of
the
thoracic
and
abdominal
aorta
,
fibrotic
changes
to
retroperitoneum
and
typical
hyperostosis
of
the
long
bones
of
lower
limbs
with
high
accumulation
of
technetium
pyrophosphate
as
well
as
fluorodeoxyglucose
.
First
line
treatment
involved
2
-
chlorodeoxyadenosine
5
mg
/
m
2
s
.
c
.
for
5
consecutive
days
every
28
days
.
There
was
no
clear
treatment
response
identifiable
on
the
MR
scan
of
the
brain
following
the
third
cycle
and
thus
4
th
-
6
th
cycle
consisted
of
2
-
chlorodexyadenosine
5
mg
/
m
2
+
cyclophosphamide
150
mg
/
m
2
+
dexamethasone
24
mg
day
1
-
5
every
28
days
.
After
the
6
th
cycle
,
MR
showed
partial
regression
of
the
brain
lesions
.
PET-
CT
showed
an
increased
accumulation
of
fluorodeoxyglucose
in
bone
lesions
.
Second
line
treatment
involved
lenalidomide
25
mg
/
day
days
1
-
21
every
28
days
.
Lenalidomide
tolerance
was
excellent
;
the
number
of
neutrophils
and
thrombocytes
was
within
the
physiological
range
throughout
the
treatment
period
.
Follow-up
MR
showed
complete
remission
of
the
brain
lesions
,
while
follow-up
PET-
CT
showed
further
increase
in
fluorodeoxyglucose
accumulation
in
the
bones
of
lower
limbs
.
Treatment
with
2
-
chlorodeoxyadenosine-based
regimen
provided
partial
remission
of
Erdheim-
Chester
disease
lesions
in
the
brain
,
while
treatment
with
lenalidomide
resulted
in
complete
remission
of
these
lesions
.
Fluorodeoxyglucose
continues
to
accumulate
in
the
long
bones
of
lower
limbs
.
We
are
unable
to
elucidate
the
reasons
for
complete
remission
of
the
disease
in
the
brain
as
per
the
MR
and
its
progression
in
the
long
bones
according
to
PET-
CT
.
Further
testing
of
lenalidomide
in
the
treatment
of
this
disease
is
required
to
support
further
use
of
this
perspective
treatment
option
.
Diseases
Validation
Diseases presenting
"neurological problems developing over 4 years were the first signs of the disease"
symptom
erdheim-chester disease
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