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[Complexity of pathological interpretation in megacystis-microcolon-intestinal hypoperistalsis syndrome].
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis-
microcolon
-
intestinal
hypoperistalsis
syndrome
is
very
rare
,
and
is
the
most
severe
of
the
chronic
intestinal
pseudoobstructions
.
Diagnosis
is
usually
made
in
the
neonatal
period
,
is
clinical
and
radiological
,
and
is
confirmed
by
manometric
studies
.
Microscopic
abnormalities
are
variable
,
inconstant
and
nonspecific
.
They
involve
the
smooth
muscle
more
often
than
the
intrinsic
innervation
of
the
gut
and
the
bladder
.
A
girl
,
currently
seven
years
old
,
presented
with
megacystis
observed
on
prenatal
ultrasound
at
21
weeks
of
gestation
.
At
first
,
amniotic
fluid
volume
was
appropriate
for
gestational
age
,
and
then
hydramnios
appeared
at
30
weeks
of
gestation
.
Microcolon
was
discovered
at
birth
,
with
microileum
,
dilatation
of
the
duodenum
and
proximal
jejunum
,
intestinal
malposition
,
and
severe
hypoperistalsis
of
the
entire
gastrointestinal
tract
,
which
indicated
enterostomy
and
total
parenteral
nutrition
from
birth
.
At
pathological
examination
,
rectal
biopsy
and
enteric
nervous
plexuses
were
normal
.
There
was
hypoplasia
of
the
external
longitudinal
layer
of
the
muscularis
propria
in
the
colon
and
ileum
.
Cajal
cells
could
not
be
demonstrated
immunohistochemically
in
the
colon
.
This
case
highlights
the
complexity
and
difficulties
of
pathological
interpretation
in
this
syndrome
,
and
the
necessity
of
a
large
study
of
controls
at
different
ages
and
different
levels
of
the
digestive
tract
and
the
bladder
.
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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