Rare Diseases Symptoms Automatic Extraction
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Congenital polymicrogyria including the perisylvian region in early childhood.
[kabuki syndrome]
Six
pediatric
cases
including
four
infants
with
congenital
polymicrogyria
including
the
perisylvian
region
are
presented
herein
.
Their
clinical
features
were
analyzed
and
compared
with
patients
suffering
from
congenital
bilateral
perisylvian
syndrome
(
CBPS
)
.
Two
specific
abnormalities
were
diagnosed
as
accompanying
disorders
in
two
cases
,
namely
Kabuki
syndrome
and
Peters
'
anomaly
.
In
the
other
four
cases
,
the
pathogenetic
etiology
was
not
elucidated
.
Subtle
symptoms
,
such
as
choking
and
drooling
became
detectable
in
one
case
each
,
and
expressive
language
development
was
delayed
in
two
patients
.
A
developmental
delay
became
apparent
in
five
cases
during
the
follow-up
period
,
and
epilepsy
was
observed
in
one
patient
with
onset
at
12
years
of
age
.
Our
results
indicate
that
the
presence
of
perisylvian
polymicrogyria
may
not
always
result
in
the
development
of
oropharyngoglossal
dysfunction
or
dysarthria
,
although
most
patients
tend
to
gradually
show
the
onset
of
developmental
disorders
.
To
support
cognitive
and
psychosocial
development
,
an
early
integrated
approach
,
including
not
only
conventional
speech
and
language
therapy
,
but
also
various
communication
methods
is
essential
for
patients
with
congenital
polymicrogyria
including
the
perisylvian
region
.
Diseases
Validation
Diseases presenting
"polymicrogyria"
symptom
alexander disease
canavan disease
cohen syndrome
kabuki syndrome
krabbe disease
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated