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Incidental radiologic findings in the 22q11.2 deletion syndrome.
[22q11.2 deletion syndrome]
The
22
q
11
.
2
deletion
syndrome
is
a
common
genetic
microdeletion
syndrome
that
results
in
cognitive
delays
and
an
increased
risk
of
several
psychiatric
disorders
,
particularly
schizophrenia
.
The
current
study
investigates
the
prevalence
of
incidental
neuroradiologic
findings
within
this
population
and
their
relationships
with
psychiatric
conditions
.
Brain
MR
imaging
from
58
individuals
with
22
q
11
.
2
deletion
syndrome
was
reviewed
by
board-certified
radiologists
by
using
standard
clinical
procedures
.
Intracranial
incidental
findings
were
classified
into
8
categories
and
compared
with
a
large
typically
developing
cohort
.
The
rate
of
incidental
findings
was
significantly
higher
(
P
<
.
0001
)
in
22
q
11
.
2
deletion
syndrome
compared
with
typically
developing
individuals
,
driven
by
a
high
prevalence
of
cavum
septum
pellucidum
(
19
.
0
%
)
and
white
matter
abnormalities
(
10
.
3
%
)
.
Both
of
these
findings
were
associated
with
psychosis
in
22
q
11
.
2
deletion
syndrome
.
Cavum
septum
pellucidum
and
white
matter
hyperintensities
are
significantly
more
prevalent
in
patients
with
the
22
q
11
.
2
deletion
syndrome
and
may
represent
biomarkers
for
psychosis
.
Diseases
Validation
Diseases presenting
"psychosis"
symptom
22q11.2 deletion syndrome
child syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
sneddon syndrome
This symptom has already been validated