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Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.
[congenital diaphragmatic hernia]
Persistent
pulmonary
hypertension
of
the
newborn
(
PPHN
)
results
from
disruption
of
the
normal
fetal
-
neonatal
circulatory
transition
and
may
be
associated
with
meconium
aspiration
,
group
B
streptococcal
sepsis
,
pneumonia
,
respiratory
distress
syndrome
,
congenital
diaphragmatic
hernia
and
pulmonary
hypoplasia
.
Seventeen
percent
of
cases
are
considered
idiopathic
since
there
is
no
identifiable
cause
.
Although
it
is
recognized
that
acidosis
and
hypoxia
from
any
cause
in
neonates
may
produce
pulmonary
vasoconstriction
and
maintain
pulmonary
hypertension
,
PPHN
has
not
been
reported
in
inborn
errors
of
metabolism
(
IEM
)
associated
with
metabolic
acidosis
like
methyl
malonic
acidemia
(
MMA
)
.
We
report
the
first
case
in
the
literature
of
MMA
presenting
concomitantly
with
PPHN
.
Undiagnosed
IEMs
,
like
MMA
,
could
represent
a
subset
of
idiopathic
cases
of
PPHN
.
Infants
and
neonates
have
a
limited
repertoire
with
which
to
respond
to
an
overwhelming
illness
.
Because
metabolic
diseases
are
rare
,
they
are
considered
only
after
excluding
more
common
causes
of
neonatal
distress
.
PPHN
is
therefore
more
likely
to
be
attributed
to
meconium
aspiration
,
sepsis
,
pneumonia
or
respiratory
distress
syndrome
than
to
an
IEM
.
The
advent
of
expanded
newborn
screening
has
made
pre-symptomatic
diagnosis
of
several
IEMs
including
MMA
possible
.
However
,
not
all
IEMs
are
identified
,
and
in
some
instances
,
an
infant
who
has
an
IEM
may
become
ill
before
the
results
of
the
newborn
screen
become
available
.
Early
diagnosis
of
IEM
is
crucial
to
prevent
catastrophic
consequences
and
the
awareness
of
an
association
with
PPHN
would
lead
to
an
aggressive
search
of
an
underlying
IEM
and
its
management
.
Diseases
Validation
Diseases presenting
"neonatal distress"
symptom
congenital diaphragmatic hernia
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