Case Presentation

2008-11-28R3 김아영

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

Tbc. 로 본원 입원치료• 당시 small bowel intussusception

• 2008.11. Abdominal pain 있어 ER 내원

• Family Hx : 어머니 , 대장용종 절제술 , lip

pigmentation (+) : 여동생 , lip pigmentation (+)

Peutz-Jeghers Syndrome

• Autosomal dominant inherited disease• Characterized by hamartomas

throughout the GIT, mucocutaneous pigmentation– Pigmentation: m/c in lips and oral mucosa, may occur around eyes, nostrils, genitalia,

hands and feet

• Incidence: 1/120,000 live birth

P-J polyps• Hamartomas initially developed

at very young age• Becoming clinically symptomatic

before 20yrs in most cases• M/C presentation : Obstruction from intussusception and oc-

cult GI bleeding• Some intussusceptions spontaneously re-

duce, others lead to small bowel obstruc-tion

• Distribution within GIT– Nearly every pts develops small bowel

polyps– 25-50% develop gastric, colonic and/or

rectal polyps

• Can ulcerate– Acute blood loss or chronic anemia

• Can occur in kidney, ureter, GB, bronchial 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%), stomach (29%), ovarian (21%), lung

(15%), small intestine (13%), cervix (10%),

uterus (9%), and testes (9%)

• Association between P-J polyps and development of malignancy (adenoca)– Controversial

• Screening– 1cm> polyps: removal by endoscopy or

through enterotomies– Annual physical exam with breast and

pelvic imaging in women– Biannually, GIT evaluation (upper en-

doscopy, SBS, endoscopic US or MRCP, and colonoscopy)

References• Intussusception in the adult: an un-

suspected case of Peutz-Jeghers syn-drome with review of the literature– Familial Cancer, Springer

• Small Bowel Intussusception Sec-ondary to Peutz-Jeghers Polyp– RadioGraphics 2008; 28:284-288