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Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature.
[canavan disease]
The
purpose
of
this
study
is
to
evaluate
parenchymal
diffusion
properties
and
metabolite
ratios
in
affected
brain
tissues
of
inherited
neurometabolic
brain
diseases
with
an
overview
of
the
current
literature
about
the
diagnostic
data
of
both
techniques
in
childhood
inherited
metabolic
brain
diseases
.
The
study
group
was
consisting
,
19
patients
(
15
males
,
4
females
;
mean
age
,
54
months
(
4
.
5
years
)
;
age
range
,
1
-
171
months
(
14
.
25
years
)
)
diagnosed
with
inherited
neurometabolic
brain
disease
.
Single
-
and
multivoxel
proton
MRS
was
carried
out
and
NAA
/
Cr
,
Cho
/
Cr
,
mI
/
Cr
,
Glx
/
Cr
ratios
were
calculated
.
Presence
of
lactate
peak
and
abnormal
different
peaks
were
noted
.
ADC
values
were
calculated
from
brain
lesions
.
Results
are
compared
with
age
and
sex
matched
normal
subjects
.
Elevated
NAA
/
Cr
ratio
(
Canavan
disease
)
,
galactitol
peak
(
galactosemia
)
at
3
.
7
ppm
,
branched
chain
amino
acids
(
Maple
syrup
urine
disease
-
MSUD
)
at
0
.
9
ppm
were
seen
on
different
diseases
.
In
Leigh
disease
and
MSUD
restricted
diffusion
was
detected
.
Different
diffusion
properties
were
seen
only
in
one
Glutaric
aciduria
lesions
.
NAA
/
Cr
ratios
and
calculated
ADC
values
were
significantly
different
from
normal
subjects
(
p
<
0
.
05
)
.
DWI
combined
with
MRS
are
complementary
methods
to
routine
cranial
MRI
for
evaluating
neurometabolic
diseases
which
can
give
detailed
information
about
neurochemistry
of
affected
brain
areas
.