Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"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