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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
We
present
2
new
patients
with
the
megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
,
review
the
literature
,
and
discuss
the
prenatal
diagnosis
and
treatment
.
MMIHS
,
as
reported
in
43
cases
,
is
usually
lethal
.
Most
children
die
during
the
first
year
of
life
,
and
only
3
children
survived
their
first
year
.
We
report
the
6
th
pair
of
sibs
with
the
disease
.
Overall
,
17
patients
reported
have
had
sibs
with
MMIHS
or
the
parents
were
consanguineous
;
4
times
the
parents
were
first
,
cousins
,
confirming
that
this
is
an
autosomal
recessive
disorder
.
The
present
2
children
,
whose
parents
also
were
first
cousins
,
were
of
different
sex
.
They
had
typical
MMIHS
with
abdominal
distension
due
to
pronounced
megacystis
,
hydronephrosis
,
microcolon
,
and
microileum
,
involving
the
distal
part
of
the
ileum
,
malrotation
of
the
gut
,
and
intestinal
hypoperistalsis
.
Neither
surgery
nor
medical
treatment
was
successful
and
the
children
died
at
the
age
of
19
days
and
2
1
/
2
months
,
respectively
.
There
is
no
cure
for
the
disease
.
However
,
a
new
protkinetic
drug
,
Cisapride
might
be
worth
trying
in
these
cases
.
Prenatal
ultrasound
diagnosis
of
MMIHS
might
be
possible
.
Diseases
Validation
Diseases presenting
"cisapride might be worth trying in these cases"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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