Rare Diseases Symptoms Automatic Extraction
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Classification of childhood white matter disorders using proton MR spectroscopic imaging.
[alexander disease]
Childhood
white
matter
disorders
often
show
similar
MR
imaging
signal-intensity
changes
,
despite
different
underlying
pathophysiologies
.
The
purpose
of
this
study
was
to
determine
if
proton
MR
spectroscopic
imaging
(
(
1
)
H-MRSI
)
may
help
identify
tissue
pathophysiology
in
patients
with
leukoencephalopathies
.
Seventy
patients
(
mean
age
,
6
;
range
,
0
.
66
-
17
years
)
were
prospectively
examined
by
(
1
)
H-MRSI
;
a
diagnosis
of
leukoencephalopathy
due
to
known
genetic
defects
leading
to
lack
of
formation
,
breakdown
of
myelin
,
or
loss
of
white
matter
tissue
attenuation
(
rarefaction
)
was
made
in
47
patients
.
The
diagnosis
remained
undefined
(
UL
)
in
23
patients
.
Patients
with
definite
diagnoses
were
assigned
(
on
the
basis
of
known
pathophysiology
)
to
3
groups
corresponding
to
hypomyelination
,
white
matter
rarefaction
,
and
demyelination
.
Choline
(
Cho
)
,
creatine
(
Cr
)
,
and
N-
acetylaspartate
(
NAA
)
signals
from
6
white
matter
regions
and
their
intra-
and
intervoxel
(
relative
to
gray
matter
)
ratios
were
measured
.
Analysis
of
variance
was
performed
by
diagnosis
and
by
pathophysiology
group
.
Stepwise
linear
discriminant
analysis
was
performed
to
construct
a
model
to
predict
pathophysiology
on
the
basis
of
(
1
)
H-MRSI
,
and
was
applied
to
the
UL
group
.
Analysis
of
variance
by
diagnosis
showed
3
main
metabolic
patterns
.
Analysis
of
variance
by
pathophysiology
showed
significant
differences
for
Cho
/
NAA
(
P
<
.
001
)
,
Cho
/
Cr
(
P
<
.
004
)
,
and
NAA
/
Cr
(
P
<
.
002
)
.
Accuracy
of
the
linear
discriminant
analysis
model
was
75
%
,
with
Cho
/
Cr
and
NAA
/
Cr
being
the
best
parameters
for
classification
.
On
the
basis
of
the
linear
discriminant
analysis
model
,
61
%
of
the
subjects
in
the
UL
group
were
classified
as
hypomyelinating
.
(
1
)
H-MRSI
provides
information
on
tissue
pathophysiology
and
may
,
therefore
,
be
a
valuable
tool
in
the
evaluation
of
patients
with
leukoencephalopathies
.
Diseases
Validation
Diseases presenting
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
