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Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
a
rare
and
frequently
lethal
form
of
severe
functional
intestinal
obstruction
more
commonly
found
in
girls
.
Imaging
features
characteristic
of
this
disease
include
a
large
dilated
bladder
,
microcolon
and
intestinal
dysmotility
.
Additional
imaging
findings
may
include
intestinal
malrotation
,
hydronephrosis
and
vesicoureteral
reflux
.
It
is
usually
fatal
in
the
first
year
of
life
.
Because
presenting
clinical
and
imaging
features
can
mimic
other
causes
of
neonatal
bowel
obstruction
,
we
compiled
examples
of
this
disorder
to
help
the
pediatric
radiologist
recognize
imaging
findings
associated
with
MMIHS
and
aid
in
the
development
of
a
long
-term
management
plan
and
in
counseling
the
family
regarding
implications
of
this
disorder
.
We
reviewed
recent
and
historical
literature
relevant
to
MMIHS
and
present
the
imaging
and
clinical
features
of
four
patients
with
MMIHS
treated
at
our
institution
as
examples
of
this
uncommon
disorder
.
Diseases
Validation
Diseases presenting
"first year"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
benign recurrent intrahepatic cholestasis
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
gm1 gangliosidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lymphangioleiomyomatosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
phenylketonuria
pleomorphic liposarcoma
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
waldenström macroglobulinemia
wolf-hirschhorn syndrome
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