Case Presentation

2008-11-28
R3

10146945
F/19
2008.2. Pulmonary Tbc., Intestinal Tbc.

small bowel intussusception
2008.11. Abdominal pain ER

 Family Hx
: , , lip pigmentatio
n (+)
: , lip pigmentation (+)

Peutz-Jeghers Syndrome
Autosomal dominant inherited disease
Characterized by hamartomas througho
ut the GIT, mucocutaneous pigmentatio
n
Pigmentation: m/c in lips and oral mucosa,
may occur around eyes, nostrils, genitalia, ha
nds and feet

Incidence: 1/120,000 live birth

 P-J polyps
Hamartomas initially developed
at v
ery young age
Becoming clinically symptomatic
before
20yrs in most cases
M/C presentation
: Obstruction from intussusception and occult G
I bleeding
Some intussusceptions spontaneously reduce,
others lead to small bowel obstruction

 Distribution within GIT

Nearly every pts develops small bowel polyps
25-50% develop gastric, colonic and/or rect
al polyps

Can ulcerate
Acute blood loss or chronic anemia

Can occur in kidney, ureter, GB, bronchi

al tree, and nasal passage

 Malignancy risk
Mutation on short arm of chromosome 19
Predispose to development of malignancy
Relative risk to develop any cancer
: x15.2, compared to general population
Breast (54%), colon (39%), pancreatic (36%), st
omach (29%), ovarian (21%), lung (15%), small
intestine (13%), cervix (10%), uterus (9%), and
testes (9%)

 Association between P-J polyps and dev

elopment of malignancy (adenoca)
Controversial

Screening
1cm> polyps: removal by endoscopy or thro
ugh enterotomies
Annual physical exam with breast and pelvic
imaging in women
Biannually, GIT evaluation (upper endoscop
y, SBS, endoscopic US or MRCP, and colono
scopy)

 References
Intussusception in the adult: an unsuspe
cted case of Peutz-Jeghers syndrome wit
h review of the literature
Familial Cancer, Springer

Small Bowel Intussusception Secondary t

o Peutz-Jeghers Polyp
RadioGraphics 2008; 28:284-288