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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
.