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A random Abstract
Our Project
Our Team
Longitudinal neuropsychological profile in a patient with triple a syndrome.
[triple a syndrome]
Triple
A
syndrome
is
an
autosomal
recessive
disorder
characterized
by
the
triad
of
adrenocorticotropic
hormone
resistant
adrenal
insufficiency
,
achalasia
,
and
alacrima
.
Our
aim
was
to
describe
the
neuropsychological
characteristics
and
the
cooccurring
psychopathological
and
neurological
disorders
in
an
Italian
male
child
suffering
from
Triple
A
syndrome
at
the
time
of
admission
(
T
0
)
and
after
one
year
of
follow-up
(
T
1
)
.
Many
difficulties
were
observed
in
the
motor
domain
,
as
well
as
in
manual
dexterity
and
static
/
dynamic
balance
domains
of
the
motor
task
over
time
.
In
sharp
contrast
with
previous
literature
reports
on
frequent
mild
cognitive
dysfunction
in
patients
with
Triple
A
syndrome
,
our
child
did
not
show
any
mental
retardation
.
By
contrast
,
he
showed
an
average
IQ
at
T
0
with
a
slight
improvement
at
T
1
.
To
our
knowledge
,
this
report
is
the
first
describing
neuropsychological
profile
and
co
-occurring
psychopathological
problems
in
a
child
with
Triple
A
syndrome
.
Considering
that
the
Triple
A
syndrome
is
a
progressive
disorder
which
can
take
years
to
develop
the
full-blown
clinical
picture
,
these
patients
require
periodical
medical
controls
.
Moreover
,
assessment
of
neuropsychological
and
psychopathological
features
should
be
performed
in
patients
with
this
disease
,
in
order
to
underline
the
variability
of
this
syndrome
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated