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Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic outflow obstruction.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
We
report
a
case
of
a
46
,
XY
male
infant
with
a
history
of
normal
amniotic
fluid
levels
who
was
delivered
by
elective
cesarean
section
at
38
.
5
weeks
'
gestation
because
of
progressive
bladder
distension
,
hydroureteronephrosis
,
and
what
was
thought
to
be
a
dilated
posterior
urethra
.
The
child
died
at
19
days
of
age
of
cardiovascular
complications
.
The
autopsy
revealed
megacystis
,
bilateral
megaureters
and
pyelocaliectasis
,
congenital
absence
of
ganglion
cells
in
the
bladder
wall
,
renal
dysplasia
,
and
a
microcolon
.
No
dilation
or
anatomic
obstruction
of
the
posterior
urethra
was
found
.
These
findings
strongly
suggest
the
diagnosis
of
megacystis
microcolon
intestinal
hypoperistalsis
syndrome
.
We
discuss
the
ultrasound
findings
of
in
utero
bladder
distension
with
hydronephrosis
and
one
of
its
rare
etiologies
.
Diseases
Validation
Diseases presenting
"absence of ganglion cells in the bladder wall"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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