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Variants of Hirschsprung disease.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Variants
of
Hirschsprung
disease
are
conditions
that
clinically
resemble
Hirschsprung
disease
,
despite
the
presence
of
ganglion
cells
in
rectal
suction
biopsies
.
The
characterization
and
differentiation
of
various
entities
are
mainly
based
on
histologic
,
immunohistochemical
,
and
electron
microscopy
findings
of
biopsies
from
patients
with
functional
intestinal
obstruction
.
Intestinal
neuronal
dysplasia
is
histologically
characterized
by
hyperganglionosis
,
giant
ganglia
,
and
ectopic
ganglion
cells
.
In
most
intestinal
neuronal
dysplasia
cases
,
conservative
treatments
such
as
laxatives
and
enema
are
sufficient
.
Some
patients
may
require
internal
sphincter
myectomy
.
Patients
with
the
diagnosis
of
isolated
hypoganglionosis
show
decreased
numbers
of
nerve
cells
,
decreased
plexus
area
,
as
well
as
increased
distance
between
ganglia
in
rectal
biopsies
,
and
resection
of
the
affected
segment
has
been
the
treatment
of
choice
.
The
diagnosis
of
internal
anal
sphincter
achalasia
is
based
on
abnormal
rectal
manometry
findings
,
whereas
rectal
suction
biopsies
display
presence
of
ganglion
cells
as
well
as
normal
acetylcholinesterase
activity
.
Internal
anal
sphincter
achalasia
is
either
treated
by
internal
sphincter
myectomy
or
botulinum
toxin
injection
.
Megacystis
microcolon
intestinal
hypoperistalsis
is
a
rare
condition
,
and
the
most
severe
form
of
functional
intestinal
obstruction
in
the
newborn
.
Megacystis
microcolon
intestinal
hypoperistalsis
is
characterized
by
massive
abdominal
distension
caused
by
a
largely
dilated
nonobstructed
bladder
,
microcolon
,
and
decreased
or
absent
intestinal
peristalsis
.
Although
the
outcome
has
improved
in
recent
years
,
survivors
have
to
be
either
maintained
by
total
parenteral
nutrition
or
have
undergone
multivisceral
transplant
.
This
review
article
summarizes
the
current
knowledge
of
the
aforementioned
entities
of
variant
HD
.
Diseases
Validation
Diseases presenting
"despite the presence of ganglion cells in rectal suction biopsies"
symptom
megacystis-microcolon-intestinal hypoperistalsis syndrome
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