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Hypoglycemia in Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
KS
)
is
a
congenital
malformation
disorder
with
a
spectrum
of
clinical
manifestations
involving
different
organs
.
Until
the
identification
of
MLL
2
gene
mutation
in
2010
,
the
diagnosis
was
made
only
clinically
by
the
characteristic
facial
features
with
other
common
and
uncommon
features
.
Hypoglycemia
,
although
an
uncommon
feature
in
KS
,
is
very
important
to
be
recognized
,
as
early
diagnosis
and
appropriate
management
will
reduce
further
long
-term
neurologic
morbidity
in
these
patients
.
We
report
on
four
patients
with
KS
presenting
with
persistent
hypoglycemia
.
Hyperinsulinemic
hypoglycemia
was
the
cause
of
hypoglycemia
in
two
out
of
four
patients
and
one
patient
had
growth
hormone
deficiency
.
The
mechanism
of
the
hypoglycemia
in
one
patient
is
still
unclear
.
Three
out
of
these
four
patients
were
found
to
have
mutation
in
the
MLL
2
gene
.
Our
observations
suggest
that
patients
with
KS
may
have
hypoglycemia
due
to
different
mechanisms
and
that
MLL
2
gene
may
have
a
role
in
glucose
physiology
.
Diseases
Validation
Diseases presenting
"mutation in the mll2 gene"
symptom
kabuki syndrome
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