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Long-term outcome of epilepsy in Kabuki syndrome.
[kabuki syndrome]
PURPOSES
AND
METHODS
:
Kabuki
syndrome
(
KS
)
is
a
rare
dysmorphic
disorder
characterized
by
multiple
congenital
anomalies
and
mental
retardation
.
Although
epilepsy
is
one
of
the
most
common
clinical
complications
associated
with
KS
,
few
studies
have
evaluated
its
electroclinical
aspects
and
long
-term
outcome
.
Therefore
,
we
describe
here
a
clinical
series
of
10
Caucasian
KS
patients
who
developed
epilepsy
in
childhood
.
We
followed
all
children
for
at
least
5
years
.
All
patients
presented
partial
seizures
and
interictal
EEGs
revealed
focal
epileptic
paroxysms
with
prevalent
involvement
of
temporo-
occipital
areas
.
Seven
children
had
no
central
nervous
system
abnormalities
,
but
enlargement
of
lateral
ventricles
,
corpus
callosum
hypoplasia
,
and
adenohypophysis
hypoplasia
were
revealed
in
three
.
Although
antiepileptic
drug
(
AED
)
treatment
was
effective
in
controlling
seizures
and
normalizing
EEG
abnormalities
in
8
patients
,
the
other
2
cases
were
resistant
to
multiple
AEDs
.
In
one
of
these
two
patients
,
withdrawal
of
AED
resulted
in
status
epilepticus
and
death
.
Partial
seizures
and
temporo-
occipital
abnormalities
on
interictal
EEG
are
common
features
of
KS
patients
who
suffer
from
epilepsy
.
Prognosis
of
this
epilepsy
is
favourable
in
the
majority
of
cases
with
complete
disappearance
of
seizures
and
EEG
abnormalities
.