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Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging.
[classical phenylketonuria]
A
multimodal
MR
study
including
relaxometry
,
diffusion
tensor
imaging
(
DTI
)
,
and
MR
spectroscopy
was
performed
on
patients
with
classical
phenylketonuria
(
PKU
)
and
matched
controls
,
to
improve
our
understanding
of
white
matter
(
WM
)
lesions
.
Relaxometry
yields
information
on
myelin
loss
or
malformation
and
may
substantiate
results
from
DTI
attributed
to
myelin
changes
.
Relaxometry
was
used
to
determine
four
brain
compartments
in
normal-appearing
brain
tissue
(
NABT
)
and
in
lesions
:
water
in
myelin
bilayers
(
myelin
water
,
MW
)
,
water
in
gray
matter
(
GM
)
,
water
in
WM
,
and
water
with
long
relaxation
times
(
cerebrospinal
fluid
[
CSF
]
-
like
signals
)
.
DTI
yielded
apparent
diffusion
coefficients
(
ADCs
)
and
fractional
anisotropies
.
MW
and
WM
content
were
reduced
in
NABT
and
in
lesions
of
PKU
patients
,
while
CSF-like
signals
were
significantly
increased
.
ADC
values
were
reduced
in
PKU
lesions
,
but
also
in
the
corpus
callosum
.
Diffusion
anisotropy
was
reduced
in
lesions
because
of
a
stronger
decrease
in
the
longitudinal
than
in
the
transverse
diffusion
.
WM
content
and
CSF-like
components
in
lesions
correlated
with
anisotropy
and
ADC
.
ADC
values
in
lesions
and
in
the
corpus
callosum
correlated
negatively
with
blood
and
brain
phenylalanine
(
Phe
)
concentrations
.
Intramyelinic
edema
combined
with
vacuolization
is
a
likely
cause
of
the
WM
alterations
.
Correlations
between
diffusivity
and
Phe
concentrations
confirm
vulnerability
of
WM
to
high
Phe
concentrations
.
Diseases
Validation
Diseases presenting
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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