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Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Two
cases
with
severe
congenital
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
are
presented
.
This
is
a
rarely
encountered
syndrome
in
neonates
and
45
cases
have
earlier
been
reported
.
The
disease
is
usually
lethal
and
it
now
seems
clear
that
MMIHS
is
an
autosomal
recessive
disorder
.
The
enlarged
bladder
,
typical
of
this
syndrome
,
is
however
easy
to
define
by
ultrasound
,
sometimes
even
in
early
pregnancy
.
The
concomitant
finding
of
a
dilatation
of
the
urinary
tract
and
the
absence
of
oligohydramnios
may
lead
the
physician
to
suspect
the
diagnosis
.
Because
of
the
information
available
from
sonography
,
appropriate
investigations
can
be
undertaken
immediately
after
delivery
.
Prenatal
ultrasound
examination
in
subsequent
pregnancies
is
recommended
.
Diseases
Validation
Diseases presenting
"the absence of oligohydramnios may lead the physician to suspect the diagnosis"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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