Rare Diseases Symptoms Automatic Extraction
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Whole-body magnetic resonance imaging: an essential tool for diagnosis and work up of non-oncological systemic diseases in children.
[child syndrome]
Whole-body
MRI
(
WBMRI
)
is
a
non-irradiating
imaging
technique
,
suitable
to
investigate
the
extent
of
multisystemic
diseases
in
pediatric
patients
.
However
its
real
impact
on
diagnosis
and
management
of
non-oncological
pediatric
diseases
remains
unclear
.
We
present
our
experience
of
pediatric
WBMRI
in
various
pathologies
.
We
retrospectively
reviewed
medical
files
of
all
non-
oncologic
patients
who
underwent
WBMRI
from
January
2008
to
November
2012
.
The
MRI
protocol
included
T
1
weighted
and
3
D
SPACE
Inversion
Recovery
(
IR
)
and
fat
saturated
diffusion
weighted
(
DWI
)
sequence
.
We
reviewed
medical
records
in
order
to
determine
if
performing
WBMRI
added
useful
information
for
diagnostic
purposes
and
/
or
changed
clinical
management
.
Forty
-
two
children
were
included
in
the
study
(
19
F
,
23
M
)
(
median
age
4
.
7
years
)
.
Twenty
-
one
children
underwent
general
anesthesia
.
WBMRI
was
a
useful
tool
to
provide
correct
diagnosis
in
chronic
recurrent
multifocal
osteomyelitis
(
CRMO
)
,
and
to
identify
the
origin
of
fever
or
arthralgia
of
unknown
etiology
.
WBMRI
allowed
to
determine
the
extent
of
disease
in
juvenile
idiopathic
arthritis
(
JIA
)
,
chronic
granulomatous
disorder
,
enchondromatosis
,
Langerhans
cell
histiocytosis
,
and
in
the
assessment
of
tumor
burden
in
neurofibromatosis
type
I
.
For
the
battered
child
syndrome
,
the
influence
on
management
was
rather
minimal
.
For
each
of
these
pathologies
we
performed
a
review
of
recent
literature
.
WBMRI
is
easy
to
perform
in
children
and
allows
the
assessment
of
systemic
diseases
or
discovery
of
lesions
ignored
by
clinical
examination
.
WBMRI
influenced
the
decisional
process
and
clinical
management
of
various
pathologies
in
our
series
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated