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Polymerase chain reaction in cerebrospinal fluid for the diagnosis of congenital toxoplasmosis.
[congenital toxoplasmosis]
Congenital
toxoplasmosis
can
result
in
visual
impairment
,
hearing
loss
,
serious
neurologic
sequelae
and
death
in
the
infant
.
We
studied
the
potential
of
the
polymerase
chain
reaction
(
PCR
)
in
cerebrospinal
fluid
(
CSF
)
for
diagnosis
of
congenital
toxoplasmosis
.
For
this
purpose
,
we
studied
both
congenitally
infected
(
diagnosed
clinically
and
serologically
)
and
noninfected
infants
born
to
untreated
mothers
.
The
infants
ranged
in
age
from
0
to
180
days
.
CSF
PCR
was
positive
in
27
of
the
58
(
46
.
5
%
)
congenitally
infected
infants
and
was
negative
in
each
of
the
103
infants
without
congenital
toxoplasmosis
.
The
frequency
of
positive
CSF
PCR
varied
according
to
whether
infants
had
major
clinical
signs
of
the
disease
;
PCR
was
positive
in
70
.
9
%
,
53
.
3
%
and
50
.
9
%
of
those
with
hydrocephalus
,
cerebral
calcifications
and
/
or
eye
disease
,
respectively
.
Of
6
infants
who
were
negative
for
both
IgM
and
IgA
antibodies
,
3
had
a
positive
PCR
in
their
CSF
as
the
confirmatory
test
for
diagnosis
of
congenital
toxoplasmosis
.
IgM
and
IgA
antibodies
and
CSF
PCR
,
when
combined
,
yielded
a
higher
sensitivity
for
diagnosis
of
congenital
toxoplasmosis
when
compared
with
the
performance
of
each
test
alone
.
Our
findings
reveal
that
in
infants
with
clinical
and
serologic
findings
suggestive
of
congenital
toxoplasmosis
and
born
to
untreated
mothers
,
CSF
PCR
has
the
potential
to
increase
the
frequency
of
cases
in
which
the
diagnosis
is
confirmed
.
Diseases
Validation
Diseases presenting
"hydrocephalus"
symptom
achondroplasia
alexander disease
canavan disease
congenital toxoplasmosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
krabbe disease
monosomy 21
proteus syndrome
severe combined immunodeficiency
sneddon syndrome
von hippel-lindau disease
wiskott-aldrich syndrome
This symptom has already been validated