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Neonatal and maternal risk in Hermansky-Pudlak syndrome: peripartum management-brief report and review of literature.
[oculocutaneous albinism]
Challenges
of
modern
medicine
are
peripartum
bleeding
complications
as
one
of
the
most
frequent
cases
of
emergency
in
obstetrics
with
a
prevalence
of
0
.
5
-
5
.
0
%
,
meaning
the
main
cause
of
maternal
morbidity
and
mortality
.
In
this
context
,
inherited
diseases
such
as
Hermansky-
Pudlak
syndrome
(
HPS
)
should
be
recognized
.
HPS
is
a
rare
disease
and
belongs
to
a
heterogeneous
group
of
autosomal
recessive
disorders
characterized
by
the
triad
of
partial
oculocutaneous
albinism
,
disorder
of
"
ceroid
"
metabolism
and
platelet
storage
pool
deficiency
with
bleeding
disorder
.
We
report
on
a
30
-
year
-old
primipara
,
to
show
the
peripartum
obstetrical
and
anaesthesiological
management
.
The
patient
presented
with
contractions
in
our
outpatient
department
in
the
39
th
gestational
week
.
In
previous
operations
there
were
bleeding
complications
due
to
HPS
.
Therefore
,
to
minimize
bleeding
complications
we
aimed
a
vaginal
birth
,
advised
against
the
peridural
anesthesia
and
optimized
the
coagulation
parameters
.
The
subsequent
delivery
was
performed
as
vacuum
extraction
without
complications
.
Patient
and
newborn
could
be
discharged
from
the
hospital
without
complications
.
In
conclusion
,
decisive
factor
for
patients
with
bleeding
disorders
is
a
close
interdisciplinary
cooperation
between
obstetrician
and
anesthesiologist
.
Diseases
Validation
Diseases presenting
"partial oculocutaneous albinism"
symptom
oculocutaneous albinism
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