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Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Two
infant
boys
with
megacystis
microcolon
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
are
reported
.
Presenting
with
neonatal
intestinal
obstruction
,
they
underwent
laparotomies
that
showed
megacystis
,
microcolon
,
and
aperistaltic
shortened
small
bowel
without
any
mechanical
obstruction
.
Patient
1
gradually
improved
and
is
developing
normally
at
home
,
on
a
normal
diet
without
genitourinary
or
gastrointestinal
complaints
(
now
11
years
old
)
.
Patient
2
,
who
underwent
vesicoamniotic
drainage
antenatally
,
never
developed
adequate
gastrointestinal
or
genitourinary
function
in
spite
of
appropriate
diversion
and
pharmacologic
support
.
He
showed
progressive
deterioration
and
died
at
the
age
of
7
months
.
Detailed
histo-immuno-
and
ultrastructural
pathology
assessment
,
although
confirming
results
in
the
existing
literature
in
some
aspects
,
showed
previously
unreported
neuronal
dysplastic
changes
associated
with
increased
laminin
and
fibronectin
.
Although
patient
1
showed
ultrastructural
features
of
vacuolar
degeneration
of
smooth
muscle
as
reported
in
the
literature
,
patient
2
showed
ultrastructural
and
histochemical
evidence
of
excessive
smooth
muscle
cell
glycogen
storage
with
severely
reduced
contractile
fibres
displaced
to
the
extreme
periphery
of
the
cells
,
suggesting
a
fundamental
defect
of
glycogen-energy
utilization
.
A
deficiency
of
fiber
synthesis
as
the
alternative
primary
defect
is
discussed
.
In
both
cases
,
a
two
-step
genetic
defect
may
explain
the
variability
in
clinical
outcome
and
pathological
findings
.
Diseases
Validation
Diseases presenting
"increased laminin"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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