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Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis
-
microcolon
intestinal
hypoperistalsis
syndrome
(
MMHIS
or
Berdon
syndrome
)
is
an
autosomal-recessive
disorder
characterized
by
chronic
intestinal
obstruction
.
Although
the
disease
is
often
diagnosed
in
female
infants
we
describe
a
man
with
late
diagnosis
in
adulthood
.
Our
patient
presented
soon
after
birth
with
intestinal
obstruction
and
developed
short
bowel
syndrome
after
multiple
intestinal
resections
.
Of
note
,
the
connective
tissue
net
within
the
muscle
layers
of
the
intestinal
wall
was
absent
(
'
aplastic
desmosis
'
)
.
This
case
illustrates
the
variable
clinical
features
of
MMHIS
and
aplastic
desmosis
,
which
might
delay
the
correct
diagnosis
of
a
severe
disorder
.
Diseases
Validation
Diseases presenting
"intestinal hypoperistalsis syndrome"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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