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Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
To
investigate
prenatal
ultrasonographic
findings
associated
with
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
.
A
PubMed
search
was
performed
using
the
terms
'
MMIHS
'
,
'
MMIH
'
and
'
prenatal
diagnosis
'
.
A
total
of
50
cases
were
analyzed
.
Prenatal
diagnosis
was
achieved
in
26
%
of
cases
.
In
54
%
of
patients
with
a
correct
antenatal
diagnosis
there
was
a
previously
affected
sibling
.
Fetal
megacystis
with
or
without
hydroureteronephrosis
was
the
most
common
initial
ultrasonographic
finding
(
88
%
)
.
While
megacystis
eventually
complicated
all
fetal
presentations
,
isolated
bilateral
hydronephrosis
and
isolated
dilated
stomach
were
noted
(
in
10
and
2
%
of
cases
,
respectively
)
prior
to
megacystis
.
The
initial
sonographic
abnormality
was
most
commonly
detected
(
in
70
%
of
patients
)
in
the
second
trimester
.
Amniotic
fluid
was
normal
in
69
%
and
increased
in
27
%
of
cases
.
Gastrointestinal
abnormalities
were
noted
in
24
%
of
pregnancies
.
MMIHS
should
be
prenatally
suspected
when
fetal
megacystis
is
associated
with
a
normal
or
increased
amount
of
amniotic
fluid
and
normal
external
genitalia
,
especially
in
the
setting
of
a
suggestive
family
history
.
Associated
gastrointestinal
findings
support
this
diagnosis
.
Isolated
bilateral
hydronephrosis
may
precede
the
development
of
megacystis
.
Due
to
preserved
renal
function
and
a
general
absence
of
oligohydramnios
,
no
rationale
exists
for
vesicoamniotic
shunt
placement
.
