A 32-year-old man presented with intermittent abdominal
pain for 2 weeks. He had otherwise been well until
May 7, 2007 when he devloped sudden onset of progressive abdominal
pain. The symptoms improved temporarily after taking
medications from local clinics, but they recurred on the
next day. He was on regular diet as usual over the following one
week, though he still complained of intermittent postprandial abdominal
fullness. He noted that the stools became liquid
or semi-liquid in consistency, occasionally covered with
blood streaks. On May 17, 2007, sudden onset of lower abdominal
pain developed again. The abdominal pain which accompanied
by vomiting made him unable to walk this time. Therefore,
he was admitted to the hospital on May 17, 2007. He smoked
1.5 packs of cigarettes and with habitual drinking. He was
single, and his father, two elder brothers and one elder sister
also had colon cancer.
On examination, he appeared
acutely ill, with regular pulse of 97 beats per minute, a
respirations 22 breaths per minute, blood pressure 180/70
mmHg, and temperature 37.8 ¢J. His height was 168 cm and weight
56 Kg. The conjunctiva was pink. The sclera was anicteric. The
neck was supple without jugular vein engorgement. The thyroid
was not enlarged and there was no palpable lymph node. The
chest expansion was symmetric without abnormal or adventitious
sounds. Cardiovascular examination showed regular heart beat
without murmurs. The abdomen was soft but one tender point was
noted at the right lower quadrant with mild rebound
tenderness. The bowel sound appeared hypoactive and both liver
and spleen was impalpable. There were no skin rashes or
lentiginous rashes on the face, and there was no leg edema.
< Laboratory Data
>
Complete blood count and differential count
|
WBC |
Hb |
Hct |
Plt |
MCV |
MCHC |
|
K/mcL |
mg/dL |
% |
K/mcL |
fL/mcL |
gm/dL |
5/17 |
17.72 |
11.4 |
35.6 |
624 |
87.9 |
32 |
|
Seg |
Band |
Eos |
Lym |
Mono |
Baso |
|
% |
% |
% |
% |
% |
% |
5/17 |
87.6 |
0 |
1.7 |
6.7 |
3.6 |
0.2 |
Biochemistry
|
BUN |
Cr |
Amylase |
Lipase |
Na |
K |
Ca |
AST |
ALT |
|
mg/dL |
mg/dl |
U/L |
U/L |
mEq/L |
mEq/L |
mg/dL |
U/L |
U/L |
5/17 |
8.8 |
0.8 |
63 |
18 |
137 |
4.6 |
2.04 |
65 |
15 |
|
T-bil |
ALP |
rGT |
LDH |
CRP |
|
mg/dl |
U/L |
U/L |
U/L |
mg/dl |
5/21 |
0.32 |
104 |
16 |
416 |
2.7 |
Stool Occult blood: 2+,
<
Course and Treatment >
On admission,
intra-abdominal infection was suspected. KUB (Figure-1b)
showed focal ileus at the cecum level. Abdominal sonography
(Figure
2) revealed ascites with a heterogeneous mass at the left
lower abdomen. Cefmetazole was given under the suspicion of
ruptured appendicitis or a cecal tumor. Abdominal computed
tomography (Figure 3)
showed a cecal and rectal mass with lumen obstruction.
Colonoscopy disclosed multiple colon polyps (Figure 4a,
b ). However, the scope was unable to advance further
when reaching the rectal tumor. Biopsy was done over the rectal tumor
and colon polyps which revealed tubular adenoma with focal
low-grade to high-grade intraepithelial neoplasia (Figure 5 a,
b, c).
According to
the finding of multiple polyps and a family history of colon
cancer, familial adenomatous polyposis (FAP) was diagnosed.
Thyroid sonography (Figure
6), computed tomography of the head (Figure 7)
and enteroscopy (Figure 4c,
d
) for detecting
extra-colonic manifestations of FAP were performed and show gastric polyps,
with normal results of the thyroid and brain.
For familial
adenomatous polyposis, he underwent subtotal colectomy and
ileostomy on May 25, 2007 smoothly. Thousands of colon polyps
and rectal and cecal mass were noted intraoperatively (Figure
8), and the pathology (Figure
5d
) revealed malignancy. The postoperative
course was smooth, and he was discharged on June 3, 2007 with
stable condition.
< Discussion
>
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(APC gene)¥X²{ÅܤơC³à¥¢¸Ó³¡¤À¥¿±`°ò¦]·|¾ÉP¸~½F§í¨î°ò¦]¡]tumor suppressor
gene¡^¥\¯à³à¥¢¡A¥HP©ó¸~½Fªº¼W¥Í¥¢¥h§í¨î¡C
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2¡B®a±Ú¦¨û¦³polyposis coli¯f¥v¡F3¡B¬V¦âÅé 5q21-q22 APC ²§±`¡C
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(1) .Gardner's
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(2).Turcot's syndrome
±`¨£ªº¤j¸z¥~ªºªí²{¬°¤¤¼Ï¯«¸g¸~½F
(3).Attenuated familial adenomatous polyposis
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polyposis©Ò¦û¤ñ¨Ò¤£¨ì©Ò¦³¤j¸zª½¸zÀùªº1%¡A¦ý¬O±wªÌ©ó¤Q¤·³©Î«C¬K´Á¹L«á«K¶}©l³vº¥¥X²{泦סA¨ì¤T¤Q¤·³«e«h´X¥G¥þ³¡·|ªí²{¥X¨Ó¡A¦Ó¯f±w¦~©¡35-40·³®É¦Ê¤À¤§¦Ê·|Àù¤Æ¦¨¬°´c©Ê¸~½F¡A¦]¦¹¯e¯fªº¶EÂ_¡BªvÀø¥H¤Î®a±Ú¦¨ûªº¿z¿ïÅ㪺§ó¬°«n¡C
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