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Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis
microcolon
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
a
rare
and
severe
disorder
of
functional
obstruction
affecting
bladder
and
bowel
,
usually
diagnosed
in
the
neonatal
period
.
Over
230
cases
have
been
reported
since
Berdon
and
colleagues
first
described
this
clinical
entity
in
1976
.
The
exact
pathogenesis
of
MMIHS
is
unknown
.
Familial
occurrence
of
MMIHS
has
been
reported
and
could
offer
insight
into
the
aetiology
of
this
disease
.
The
purpose
of
this
study
was
to
systematically
review
the
published
literature
for
the
evidence
of
familial
MMIHS
and
to
characterise
these
presentations
.
A
literature
search
was
performed
using
the
keywords
"
megacystis
microcolon
intestinal
hypoperistalsis
"
(
1976
-
2013
)
.
Retrieved
articles
,
including
additional
studies
from
reference
lists
,
were
reviewed
for
consanguinity
between
parents
and
recurrence
of
MMIHS
between
siblings
.
Data
were
extracted
for
cases
where
familial
MMIHS
was
present
.
A
total
of
47
patients
were
reported
in
which
familial
MMIHS
was
likely
or
confirmed
.
15
sibling
sets
were
definitively
diagnosed
with
MMIHS
(
14
pairs
and
one
set
of
three
siblings
)
.
Four
further
index
patients
with
a
confirmed
diagnosis
and
also
one
of
the
sibling
pairs
were
reported
to
have
a
sibling
in
which
MMIHS
was
probable
.
Consanguinity
between
parents
was
present
in
four
of
the
confirmed
sibling
sets
and
in
an
additional
seven
individual
cases
.
The
outcome
for
familial
MMIHS
is
generally
poor
.
Multiple
sibling
fatalities
were
frequent
and
in
only
one
family
were
both
siblings
'
survivors
at
the
time
of
reporting
.
Consanguinity
between
parents
and
recurrence
in
siblings
indicate
that
MMIHS
is
inherited
in
an
autosomal
recessive
manner
.
With
the
advent
of
next
generation
sequencing
,
these
familial
clusters
may
be
key
to
determining
the
genetic
basis
for
MMIHS
.
Diseases
Validation
Diseases presenting
"neonatal period"
symptom
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cutaneous mastocytosis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
pyruvate dehydrogenase deficiency
zellweger syndrome
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