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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
"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
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