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Progressive neuropsychiatric manifestations of phenylketonuria in adulthood.
[phenylketonuria]
Neuropsychiatric
signs
and
MRI
abnormalities
can
occur
in
patients
with
phenylketonuria
in
adulthood
.
We
describe
clinical
and
radiological
features
of
phenylketonuric
patients
and
we
discuss
the
advantage
of
continuing
diet
in
adulthood
.
We
report
late
onset
neuropsychiatric
symptoms
of
four
phenylketonuric
patients
(
33
-
45
years
)
diagnosed
in
infancy
and
report
the
case
of
a
patient
(
33
years
)
diagnosed
with
phenylketonuria
because
of
late
onset
neurological
signs
.
We
describe
clinical
and
radiological
features
of
these
5
patients
,
and
their
evolution
under
diet
and
propose
a
review
of
the
literature
.
The
main
neurological
abnormalities
in
phenylketonuric
patients
diagnosed
in
infancy
are
:
brisk
reflexes
,
spastic
paraparesis
,
psychiatric
signs
that
appear
10
.
5
years
after
the
diet
arrest
.
A
leukoencephalopathy
was
present
in
93
%
of
cases
and
91
.
7
%
improve
clinically
after
poor
phenylalanine
diet
reintroduction
.
In
4
patients
,
neurological
abnormalities
(
spastic
paraparesis
,
dementia
,
Parkinsonism
)
led
to
the
late
diagnosis
.
Two
of
them
had
a
leukoencephalopathy
on
brain
MRI
.
Patients
had
high
levels
of
phenylalanine
(
above
1500
μmol
/
L
)
when
neuropsychiatric
signs
occurred
.
Improvement
after
diet
suggests
that
hyperphenylalaninemia
has
a
direct
toxic
effect
on
the
brain
.
The
long
-term
follow-up
of
phenylketonuric
patients
is
mandatory
to
depict
and
treat
neurological
complications
in
time
.
Diet
reintroduction
is
efficacious
in
most
cases
.
