Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom