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Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases.
[triple a syndrome]
Allgrove
's
syndrome
,
i
.
e
.
,
achalasia
,
addisonianism
,
alacrima
(
OMIM
231550
)
is
an
autosomal
recessive
disorder
recently
associated
with
the
AAAS
gene
coding
for
the
Aladin
protein
.
However
,
the
pathophysiology
of
achalasia
in
Allgrove
's
syndrome
remains
obscure
.
Here
we
investigated
the
histopathology
of
the
cardia
in
Allgrove
's
syndrome
.
Myectomy
specimens
from
10
children
with
Allgrove
's
syndrome
and
four
normal
cardia
were
studied
by
routine
staining
and
by
immunohistochemistry
for
the
pan-
neuronal
marker
PGP
9
.
5
,
neuronal
NO
synthase
,
interstitial
cells
of
Cajal
,
and
CD
3
+
lymphocytes
.
In
the
normal
cardia
,
myenteric
ganglia
,
intramuscular
nerve
fibers
,
and
interstitial
cells
of
Cajal
were
numerous
,
whereas
myenteric
fibrosis
and
lymphocyte
infiltrates
were
absent
.
In
Allgrove
's
syndrome
,
fibrosis
of
the
intermuscular
plane
was
prevalent
in
all
patients
.
Myenteric
ganglia
were
absent
,
decreased
,
or
apparently
normal
in
1
of
10
,
8
of
10
,
and
1
of
10
,
respectively
.
Neuronal
NO
synthase
was
absent
in
7
of
10
and
decreased
in
3
of
10
,
whereas
interstitial
cells
of
Cajal
appeared
normal
in
7
of
10
and
decreased
in
3
of
10
.
Lymphocytes
infiltrating
the
myenteric
plexus
were
present
in
6
of
10
.
Pyloromyectomy
specimens
available
for
six
patients
showed
normal
histopathologic
features
.
In
conclusion
,
the
lack
of
neuronal
NO
synthase
and
fibrosis
of
the
intermuscular
plane
can
be
linked
to
the
defective
cardia
relaxation
.
Other
features
were
less
constant
and
may
reflect
the
variability
of
disease
expression
and
progression
among
patients
with
Allgrove
's
syndrome
.
Diseases
Validation
Diseases presenting
"defective cardia relaxation"
symptom
triple a syndrome
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