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A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.
[kabuki syndrome]
Kabuki
syndrome
is
a
rare
multiple
anomaly
syndrome
characterized
by
a
peculiar
face
,
skeletal
and
dermatoglyphic
anomalies
,
postnatal
growth
retardation
and
mental
retardation
.
We
report
a
case
of
Kabuki
syndrome
with
unilateral
perisylvian
cortical
dysplasia
.
This
two
-
year
old
boy
was
referred
to
our
hospital
at
3
-
months
of
age
for
his
growth
retardation
and
muscle
hypotonia
.
Because
of
his
peculiar
face
,
brachydactyly
V
and
fingertip
pad
,
we
diagnosed
him
as
having
Kabuki
syndrome
.
His
MRI
revealed
cortical
dysplasia
along
the
left
sylvian
fissure
.
However
,
neither
epileptic
seizures
nor
epileptiform
discharges
on
electroencephalogram
were
observed
.
Cortical
dysplasia
is
a
relatively
rare
brain
malformation
among
the
central
nervous
system
anomalies
accompanying
with
this
syndrome
.
We
have
to
take
into
consideration
the
likely
onset
of
epilepsy
in
this
patient
because
it
is
one
of
the
most
frequent
neurological
consequences
of
cortical
dysplasia
.
Diseases
Validation
Diseases presenting
"relatively rare brain malformation among the central nervous system anomalies"
symptom
kabuki syndrome
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