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Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
is
a
rare
congenital
disorder
first
described
in
1981
.
Case
reports
indicate
multiple
congenital
abnormalities
:
skeletal
anomalies
,
cognitive
impairment
,
characteristic
facial
appearance
,
and
peculiar
dermatoglyphic
patterns
.
We
describe
a
patient
with
Kabuki
syndrome
who
presented
with
physiologic
tremor
in
her
distal
upper
extremities
.
Cranial
magnetic
resonance
imaging
revealed
symmetric
T
(
2
)
-
hyperintense
lesions
with
mildly
restricted
diffusion
in
the
lentiform
nuclei
,
red
nuclei
,
and
dentate
nuclei
bilaterally
.
Although
multiple
abnormalities
of
the
central
nervous
system
were
reported
previously
in
Kabuki
syndrome
,
this
patient
is
the
first
,
to
the
best
of
our
knowledge
,
with
the
unique
findings
that
we
observed
.
Diseases
Validation
Diseases presenting
"cognitive impairment"
symptom
22q11.2 deletion syndrome
cadasil
canavan disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
locked-in syndrome
phenylketonuria
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated