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Intestinal ganglioneuromatosis: unusual presentation of Cowden syndrome resulting in delayed diagnosis.
[cowden syndrome]
We
report
on
a
25
-
year
-old
woman
who
presented
as
a
teenager
with
macrocephaly
and
multiple
gastrointestinal
lesions
including
ganglioneuromas
,
hamartomas
,
lipomas
,
juvenile
,
and
hyperplastic
polyps
in
association
with
extra
-
intestinal
tumors
including
a
retroperitoneal
lipoma
,
storiform
collagenoma
,
and
a
fibrolipomatous
hamartoma
.
PTEN
mutation
analysis
identified
a
deletion
in
exon
2
,
confirming
the
diagnosis
of
Cowden
syndrome
.
While
intestinal
polyps
are
common
among
Cowden
patients
who
undergo
endoscopy
,
and
intestinal
ganglioneuromas
are
occasionally
reported
,
they
are
not
usual
presenting
manifestations
.
Intestinal
ganglioneuromatosis
is
divided
into
three
subgroups
:
(
1
)
polypoid
ganglioneuromatosis
(
usually
few
isolated
ganglioneuromas
)
,
(
2
)
generalized
ganglioneuromatosis
(
usually
associated
with
NF
1
or
MEN
)
,
and
(
3
)
ganglioneuromatous
polyposis
without
known
systemic
disease
,
although
there
are
several
reported
patients
with
multiple
lipomas
.
This
individual
with
Cowden
syndrome
closely
resembles
the
latter
group
,
thus
we
suggest
that
patients
with
ganglioneuromatous
polyposis
,
especially
in
association
with
lipomas
,
should
be
evaluated
for
possible
Cowden
syndrome
.
Diseases
Validation
Diseases presenting
"storiform collagenoma"
symptom
cowden syndrome
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