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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
"distal upper extremities"
symptom
kabuki syndrome
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