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Evaluation of calretinin immunohistochemistry as an additional tool in confirming the diagnosis of Hirschsprung disease.
[hirschsprung disease]
Hirschsprung
disease
(
HD
)
is
a
congenital
malformation
defined
as
the
absence
of
myenteric
and
submucosal
ganglion
cells
(
GCs
)
in
the
distal
rectum
and
variable
length
of
the
contiguous
bowel
.
The
aim
of
this
study
was
to
assess
the
utility
of
calretinin
immunochemistry
in
comparison
with
that
of
standard
histology
complemented
with
acetylcholinesterase
(
AChE
)
histochemistry
routinely
employed
at
our
institution
to
evaluate
rectal
biopsies
carried
out
for
suspicion
of
HD
.
Twenty
-
one
rectal
biopsies
were
reviewed
,
including
14
from
patients
with
suspected
HD
,
6
from
infants
with
necrotizing
enterocolitis
(
NEC
)
,
and
1
from
a
patient
diagnosed
with
spontaneous
intestinal
perforation
(
SIP
)
.
Sections
stained
with
hematoxylin-eosin
(
HE
)
revealed
absence
of
ganglion
cells
in
13
cases
which
included
11
patients
with
HD
and
2
patients
with
NEC
.
Among
13
cases
of
aganglionosis
the
AChE
reaction
pattern
was
consistent
with
HD
in
2
patients
.
Calretinin
positivity
was
observed
in
all
rectal
biopsies
showing
the
presence
of
GC
,
and
the
staining
was
consistently
absent
in
all
cases
of
aganglionosis
.
In
6
rectal
biopsies
in
which
abnormal
acetylcholinesterase
(
AChE
)
staining
was
not
seen
,
loss
of
calretinin
immunoreactivity
helped
establish
the
diagnosis
of
HD
.