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Dilated vein of Galen in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
comprises
multiple
congenital
abnormalities
and
is
characterized
by
a
peculiar
facial
appearance
,
dermatoglyphic
anomalies
,
mental
retardation
,
skeletal
abnormalities
and
postnatal
growth
retardation
.
We
describe
the
case
of
a
23
-
month
-old
boy
with
the
typical
features
of
KS
who
had
several
malformations
in
the
veins
of
the
brain
,
which
had
not
previously
been
described
in
patients
with
this
syndrome
.
The
MRI
phlebogram
of
this
patient
showed
that
the
vein
of
Galen
was
dilated
and
that
it
drained
anomalously
.
The
sinus
rectus
was
abnormal
and
the
longitudinal
inferior
venous
sinus
was
absent
.
In
view
of
this
finding
,
together
with
the
fact
that
structural
brain
abnormalities
in
KS
are
more
frequent
than
in
other
congenital
syndromes
with
multiple
malformations
,
we
propose
that
MRI
be
used
in
the
diagnostic
work-up
of
all
patients
with
KS
.
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