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Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.
[congenital toxoplasmosis]
The
autosomal
recessive
form
of
microcephaly
-
chorioretinopathy
syndrome
is
a
rare
genetic
condition
that
is
considered
to
be
an
important
differential
diagnosis
with
congenital
toxoplasmosis
.
Our
patient
was
a
seven
-
year
-old
white
boy
who
was
initially
diagnosed
with
congenital
toxoplasmosis
.
However
,
his
serological
tests
for
congenital
infections
,
including
toxoplasmosis
,
were
negative
.
He
was
the
first
child
of
young
,
healthy
and
consanguineous
parents
(
fourth
-degree
relatives
)
.
The
parents
had
normal
head
circumferences
and
intelligence
.
The
patient
presented
microcephaly
and
specific
abnormalities
of
the
retina
,
with
multiple
diffuse
oval
areas
of
pigmentation
and
patches
of
chorioretinal
atrophy
associated
with
diffuse
pigmentation
of
the
fundus
.
Ophthalmological
evaluations
on
the
parents
were
normal
.
A
computed
tomography
scan
of
the
child
's
head
showed
slight
dilation
of
lateral
ventricles
and
basal
cisterns
without
evidence
of
calcifications
.
We
did
not
find
any
lymphedema
in
his
hands
and
feet
.
He
had
postnatal
growth
retardation
,
severe
mental
retardation
and
cerebral
palsy
.
The
finding
of
chorioretinal
lesions
in
a
child
with
microcephaly
should
raise
suspicions
of
the
autosomal
recessive
form
of
microcephaly
-
chorioretinopathy
syndrome
,
especially
in
cases
with
an
atypical
pattern
of
eye
fundus
and
consanguinity
.
A
specific
diagnosis
is
essential
for
an
appropriate
clinical
evaluation
and
for
genetic
counseling
for
the
patients
and
their
families
.
Diseases
Validation
Diseases presenting
"for genetic counseling for the patients and their families"
symptom
congenital toxoplasmosis
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