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[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography].
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Foetal
megacystis
(
incidence
1
:
1
500
)
occurring
in
the
first
trimester
may
already
be
a
sign
of
congenital
malformation
.
Often
,
urethral
valves
are
causally
responsible
in
male
foetuses
far
more
frequently
than
urethral
atresia
.
As
a
further
differential
diagnosis
,
the
"
prune-belly
syndrome
"
needs
to
be
distinguished
.
Far
more
difficult
to
classify
prenatally
is
the
rare
MMIHS
which
,
in
contrast
to
the
diagnosis
of
urethral
valves
,
is
associated
with
an
unfavourable
prognosis
.
This
is
a
report
on
a
28
-
year
-old
IG
/
0
P
,
whose
foetus
of
26
+
4
gestational
weeks
was
found
on
ultrasonography
for
the
first
time
to
have
a
megacystis
of
48
mm
diameter
and
bilateral
hydronephrosis
.
The
female
foetus
was
surrounded
by
a
normal
amount
of
amniotic
fluid
which
,
during
the
further
course
of
the
pregnancy
,
developed
into
polyhydramnios
.
The
serial
puncture
of
the
urinary
bladder
showed
a
normal
karyotype
and
no
impairment
of
the
renal
concentrating
capacity
or
of
protein
loss
.
By
reason
of
an
immense
enlargement
of
the
abdomen
due
to
the
100
mm
large
urinary
bladder
,
a
Caesarean
section
was
conducted
at
36
+
0
gestational
weeks
.
A
catheter
could
be
inserted
into
the
urinary
bladder
postpartum
easily
.
However
,
nourishment
was
not
possible
and
after
radiological
examination
,
MMIHS
was
diagnosed
.
In
the
case
of
a
foetal
megacystis
detected
by
ultrasonography
,
especially
associated
with
polyhydramnios
and
female
gender
,
the
rare
MMIHS
,
which
is
infaust
,
should
be
taken
into
consideration
.
Diseases
Validation
Diseases presenting
"congenital malformation"
symptom
aniridia
hirschsprung disease
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
megacystis-microcolon-intestinal hypoperistalsis syndrome
omenn syndrome
phenylketonuria
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