Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Seizures and EEG pattern in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
rare
dysmorphogenic
disorder
that
is
characterized
by
multiple
congenital
abnormalities
with
central
nervous
system
involvement
.
The
diagnosis
is
clinical
and
a
variable
degree
of
mental
retardation
is
always
present
.
Epilepsy
is
frequently
reported
,
but
a
typical
electroclinical
pattern
has
not
been
described
.
We
describe
the
electroclinical
features
of
eight
KS
non-
Japanese
patients
with
epilepsy
.
We
analysed
seizure
characteristics
and
pattern
EEG
and
clinical
outcomes
in
eight
KS
patients
.
All
patients
presented
with
focal
seizures
.
A
frontal
epileptic
status
was
present
in
two
cases
.
We
highlighted
the
fact
that
,
during
evolution
,
seven
patients
shared
the
same
interictal
EEG
pattern
,
which
was
characterized
by
isolated
or
repetitive
biphasic
spikes
or
sharp
waves
,
followed
by
a
slow
wave
of
medium
and
high
voltage
,
predominantly
localised
in
the
fronto-
central
regions
.
The
natural
course
of
seizures
is
favourable
.
Our
results
showed
a
peculiar
homogeneous
electroclinical
pattern
in
KS
,
characterized
by
focal
seizures
more
frequently
origin
in
fronto-
central
area
which
demonstrated
that
seizures
are
mostly
focal
in
type
and
that
a
fronto-
central
origin
is
more
frequently
evident
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated