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Brain MRI diffusion-weighted imaging in patients with classical phenylketonuria.
[classical phenylketonuria]
The
aim
of
this
study
was
to
grade
magnetic
resonance
white
matter
abnormalities
(
WMAs
)
of
classical
phenylketonuria
(
cPKU
)
patients
treated
from
birth
and
to
compare
sensitivity
and
specificity
of
T
2
-
weighted
and
diffusion-weighted
images
(
DWI
)
.
Twenty
early
-treated
cPKU
patients
still
on
a
low
-phenylalanine
diet
(
12
males
;
mean
age
21
.
2
years
)
and
26
normal
subjects
(
ten
males
;
mean
age
25
.
1
years
)
were
enrolled
.
Typical
T
2
-
and
diffusion-weighted
WMAs
were
semiquantitatively
graded
according
to
Thompson
score
(
TS
)
.
Besides
,
a
regional
magnetic
resonance
imaging
(
MRI
)
score
(
mTS
)
was
developed
according
to
extension
and
intensity
of
WMAs
.
Phenylalanine
and
tyrosine
plasma
concentrations
before
performing
MRI
and
the
amino
acid
mean
levels
collected
the
year
before
MRI
(
Tyr
(
year
)
and
Phe
(
year
)
)
were
measured
.
No
patient
with
Phe
(
year
)
concentration
below
460
mumol
/
L
showed
WMAs
.
In
cPKU
patients
,
TS
and
mTS
were
significantly
higher
on
DWI
than
on
T
2
images
(
3
.
50
vs
2
.
65
and
23
.
65
vs
15
.
85
,
respectively
,
p
<
0
.
002
,
Wilcoxon
test
)
.
All
controls
were
scored
0
on
DWI
,
while
in
T
2
images
,
TS
and
mTS
were
0
.
19
and
1
.
70
.
DWI
evaluated
by
mTS
disclosed
a
frontotemporal
,
occipital
,
and
parietal
WM
progressive
involvement
.
TS
and
mTS
,
both
on
T
2
images
and
on
DWI
,
showed
no
correlation
with
tyrosine
while
they
proved
to
have
a
strong
correlation
with
phenylalaninemia
and
an
excellent
one
with
Phe
(
year
)
levels
.
Among
the
different
MR
sequences
,
DWI
seems
to
be
the
most
sensitive
and
reliable
in
detecting
and
grading
the
typical
WMAs
of
cPKU
patients
.
Diseases
Validation
Diseases presenting
"low-phenylalanine diet"
symptom
classical phenylketonuria
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