A case of PJS and her presentation , management , which included resection and anastomosis of jejunoilial intussusception, and the followup done

1. A CASE OF PEUTZ JEGHERS SYNDROME
DR. AVIJIT BANERJEE
General Surgery PGT-S.E. RAILWAY HOSPITAL

2. COMPLAINTS
 18 years old lady came with chief complaints of PAIN
UPPER ABDOMEN for last 5 months which was acute in
onset and colicky in nature and subsided on its own.
 c/o Vomiting : Bilious in nature
 Not associated with loss of weight or appetite
 Not associated with hematemesis, melaena, fever or
jaundice
 No past h/o abdominal operation

3. PAST HISTORY
 SIMILAR ATTACK IN OCT 2016
 WAS ADMITTED FOR 4 DAYS
 USG ABDOMEN– ASCARIASIS WITH BOLUS
OBSTRUCTION
 CT ABDOMEN– Ileal obstruction ? Intussusception
 Subsided with conservative management and
subsequently treated with albendazole

4. RADIOLOGY
CXR – PA VIEW ST. X-RAY ABDOMEN

5. USG ABDOMEN

6. CT ABDOMEN (17/10/2016)
 There was invagination of proximal ileal loop with its
mesentery into the mid- ileal loop suggesting
intussusception. Mural oedema of the involved ileal
loops noted. There was no dilatation of proximal bowel
loops. No obvious mass lesion seen. Ileal loops were
loaded with fecal matters possibly due to chronic
constipation.
 Mesentery - No enlarged lymph nodes seen.

7. CT ABDOMEN

8. GENERAL
EXAMINATION
 Average body built, mild pallor,
no icterus or lymphadenopathy, no oedema
 Pulse, BP, temp within normal limits
 There is pigmentation over lower lip
including the mucosal surface.
 Both palmar aspect of fingers & plantar
aspect of toes showed pigmentation.

9. PIGMENTATION
FACE INNER LIP

10. LIMB PIGMENTATION
FINGERS TOES

11. EXAMINATION OF ABDOMEN
INSPECTION :Scaphoid. No visible peristalsis. Umbilicus-
normally placed & inverted. No venous engorgement.
PALPATION: Soft , Non-tender, Liver not enlarged, Spleen –
not palpable. No other mass, No ascites.
IPS – increased
DRE - Normal

12. INVESTIGATIONS

13. BLOOD PARAMETERS
 HB-7.8gm%, TLC-6800/cmm. N-75%, Platelet-3.59L
 FBS- 90mg%
 Blood Urea- 14 mg %, S. Cr- 0.6 mg%
 S.Na 133 meq /L S.K- 4.2 meq / L
 LFT : S. BIL- 0.6 mg%. SGPT – 26 U/L , SGOT – 15 U/L .
S. Alk Phos- 88 IU / L. Alb- 3.5 gm%, Glb – 3.4 gm%
 S. Amylase- 45 U /ml
 P.Time 13/17 sec INR – 1.34
 Blood Gr – B Positive

14. UGIE (7/4/17 )
 Oesophagus – N.
 A small polyp at fundus of the stomach.
 Pylorus – N
 Duodenum upto 2nd part – Normal
Diagnosis : Gastric Polyp

15. UGIE

16. COLONOSCOPY
 A pedunculated polyp in the sigmoid
colon.
 Rest of the colon was normal.

17. COLONOSCOPY

18. CT ENTEROCLYSIS
 GB – N, Pancreas- N, Spleen – N, Kidneys – N, Adrenals- N
 Stomach and GUT - A strongly enhancing pedunculated polyp was seen in
distal jejunum measuring 30 mm x 26mm and 30mm. The polyp had a
vascularized pedicle supplied by jejunal branch of sup. Mesenteric art.
Small polyps were seen in D3, Proximal jejunum & ileum. A small
enhancing pedunculated polyp was present in sigmoid colon measuring
15 x 13 mm.
 A cyst was seen in RT OVARY measuring 16 x 15 mm

19. CT ENTEROCLYSIS

20. CT ENTEROCLYSIS

21. COURSE IN THE HOSPITAL
 She was given two units blood transfusion to correct
anaemia as her Hb was 7.5 gm%
 Patient was being prepared for Elective Laparotomy on
24/4/2017
 On 20/4/2017 she developed acute intestinal
obstruction which did not subside with conservative
management
 Emergency laparotomy was done on 20/4/17

22. LAPAROTOMY UNDER GA
 INCISION – upper midline incision
 PATHOLOGY : Few Loops of jejunum were distended, but
was viable.
 A firm mass was palpable at the distal end of the
distension
 No fluid in the peritoneal cavity

23. LOOPS OF INTESTINE

25. HISTOPATHOLOGY OF THE POLYP
 THE POLYP WAS HAMARTOMOUS IN NATURE

26. FINAL DIAGNOSIS
 A CASE OF PEUTZ JEGHERS SYNDROME PRESENTED
WITH RECURRENT JEJUNO-ILEAL INTUSSUSSEPTION
 MANAGED WITH EMERGENCY RESECTION OF THE
SEGMENT OF JENUNAL LOOP INVOLVED AND
ANASTOMOSIS.
 COLONOSCOPIC SNARING OF SIGMOID POLYP WAS
DONE ON A LATER DATE
 NOW UNDER FOLLOW UP

27. PEUTZ JEGHERS SYNDROME
 PJS is an autosomal dominant inherited disorder
characterized by intestinal hamartomatous polyps in
association with a distinct pattern of skin and mucosal
macular melanin deposition.
 Patients with Peutz-Jeghers syndrome have a 15-fold
increased risk of developing intestinal cancer compared
with the general population.

28.  48% of patients with Peutz-Jeghers syndrome develop
and die from cancer by age 57 years.
 Others may have a normal life span.
 The mean age at first diagnosis of cancer is 42.9 years,
±10.2 years.

29. GENETICS
 The cause of Peutz-Jeghers syndrome (PJS) in most
cases (66-94%) appears to be a germline mutation of
the STK11/LKB1 (serine/threonine kinase 11) tumor
suppressor gene, located on band 19p13.3.

30. Clinical presentation
 During the first 3 decades of life, anemia, rectal bleeding,
abdominal pain, obstruction, and/or intussusception are
common complications in patients with Peutz-Jeghers
syndrome.
 Nearly 50% of the patients experience an intussusception
during their lifetime, most commonly in the small
intestine.

31. EPIDEMIOLOGY
 Peutz-Jeghers syndrome (PJS) is rare in the United
States, with a frequency of encounter from polyposis
registries one tenth that of FAP
 This would place the frequency between 1 case per
60,000 people and 1 case per 300,000 people.
 The international frequency of Peutz-Jeghers syndrome
is unknown, but given the rarity of this condition, the
frequency is probably similar to that reported in the
United States.

32. AGE RELATED DEMOGRAPHICS
 Polyps found in Peutz-Jeghers syndrome commonly present in
adolescence and early adulthood.
 One third of the affected individuals experience symptoms during the first
10 years of life.
 The median time of first presentation with polyps is by 11-13 years;
 Approximately 50% of individuals have experienced symptoms by age 20
years.

33. CANCER IN PEUTZ-JEGHERS
SYNDROME
 PJS entails a significant overall increased lifetime risk of intestinal and
extraintestinal malignancy.
 The overall relative risk for cancer is greater in females than in males and
greatest for gastrointestinal, pancreatic, breast and gynecologic-cervical
cancers.
 Breast cancer in patients with Peutz-Jeghers syndrome may occur at a
young age, and it may also be bilateral.

34. GASTROINTESTINAL COMPLICATIONS
 Obstruction- 42.8% of patients
 Abdominal pain caused by infarction - 23% of patients
 Bleeding caused by ulceration - 13.5% of patients
 Gastric outlet obstruction can be an early presenting complaint in Peutz-Jeghers
syndrome, including in the neonatal period.
 Gastrointestinal hemorrhage may not be apparent and may present as iron
deficiency anemia
 The principal causes of morbidity in Peutz-Jeghers syndrome is from the intestinal
location of the polyps (ie, small intestine, colon, stomach).
 Intestinal obstruction can occur in about 50% of patients, and it is usually localized
in the small bowel.

35. POLYPS IN PJS
Polyps in the Utsunomiya study’s patients occurred as follows:
 Small intestine - 64% of patients
 Colon - 63.2% of patients
 Stomach - 48.6% of patients
 Rectum - 32% of patients
 The incidence of polyps within the small intestine is greatest in the jejunum
and progressively decreases in the ileum and duodenum.

36. EXTRAINTESTINAL POLYPS
Are also reported, although they are rare;
 They include:
Nasal polyps,
Gall bladder polyps,
Ureteric polyps,
Respiratory tract polyps.

37. THE DIAGNOSTIC CRITERIA FOR PJS
As proposed by the Johns Hopkins Registry include:
 Histopathologically verified hamartomatous polyps with
at least 2 of the following:
1. Small-bowel location for polyposis
2. Mucocutaneous melanotic pigmentation
3. Family history of Peutz-Jeghers syndrome.

38. Monitoring
Surveillance guidelines for Peutz-Jeghers syndrome have
primarily been based on expert opinion
 A complete small bowel evaluation with EGD and capsule
endoscopy should be done biannually, starting around age
8 years or younger if symptoms are present
 Colonoscopy should be done every 2 to 3 years, starting in
the late teenage years to mid twenties
 Breast surveillance (females): self-breast exams beginning
at 18 years of age, semiannual clinical breast exams, annual
mammogram, and consideration of annual breast MRI
beginning at 25 years of age.

39.  Gynecologic surveillance with pelvic exam and Pap smear
every 3 years beginning at 25 years of age.
 Testicular surveillance comprising annual physical exam,
including testicular exam, from birth until 12 years of age.
Follow-up testicular ultrasound Is indicated if
abnormalities are detected

40. Patient Instructions
 Patients should be told that they will require routine
periodic (semiannual, annual, and biannual) examinations
for gastrointestinal and extraintestinal cancer surveillance.
Women with PJS should begin self-breast exams at 18
years of age. They may benefit from involvement in
disease-specific patient advocacy groups. An online
support group has been established for PJS

41. THANK YOU

42. GENETICS
 Genetic counseling should also be provided.
 Many of the gastrointestinal lesions start developing early
in life, even if the syndrome is not clinically apparent until
the second and third decades of life.
 Proper screening for intestinal cancers and extraintestinal
cancers should be implemented.

43. HISTORY & NOMENCLATURE
 The syndrome was described in 1921 by Jan Peutz (1886-1957), a Dutch
physician who noted a relationship between the intestinal polyps and the
mucocutaneous macules in a Dutch family.
 The dermatologic component had previously been reported by John
McHutchinson in 1896 in identical twins, one of who subsequently died
from intussusception.
 Harold Jeghers (1904-1990), an American physician, is credited with the
definitive descriptive reports of the syndrome when he published
"Generalized intestinal polyposis and melanin spots of the oral mucosa,
lips and digits," in 1949, with McKusick and Katz.
 The eponym Peutz-Jeghers syndrome was introduced by the radiologist
Andre J. Bruwer in 1954.

44. PIGMENTATIONS IN PJS
 Hyperpigmented mucocutaneous macules may be
present on the lips and buccal mucosa and around the
mouth, eyes, and nostrils, as well as sparsely on the
fingers, soles of the feet, palms, anal area, and intestinal
mucosa.
 The macules are flat, blue-gray to brown-black spots 2-4
mm in size.
 They tend to develop by age 5 years, but are rarely
present at birth. Some may fade during the onset of
puberty, but buccal mucosa lesions tend to persist.

45. LABORATORY STUDIES
 Complete blood cell (CBC) count
 Fecal occult blood
 Carcinoembryonic antigen (CEA )
 Cancer antigen (CA)–19-9 and CA-125:
: CA-125 testing is indicated every year
starting at age 18 years.
: CA 19-9 is indicated every 1-2 years
starting at age 25 years

46. IMAGING STUDIES IN PJS
 Capsule endoscopy
 Magnetic resonance imaging (MRI) enteroclysis
 Computed tomography (CT) scanning with oral contrast
 UGIE
 Colonoscopy
 Push enteroscopy
 Intraoperative enteroscopy (IOE)
 Double-balloon enteroscopy
 Endoscopic ultrasonography
 Endoscopic retrograde cholangiopancreatography

47. HISTOPATHOLOGY OF POLYPS
The gastrointestinal polyps found in Peutz-Jeghers
syndrome are typical hamartomas

48. Prognosis
 The major life-threatening complications to individuals
with PJS are cancer and small bowel obstruction. Two
small studies showed that the age of death is earlier in
patients with PJS than their unaffected family members
and has been due to obstruction or cancer.

49. Emerging
 COX-2 The enzyme COX-2 has been shown to be overexpressed in
both the intestinal hamartomas and cancers associated with PJS.
Limited evidence has demonstrated a benefit from the use of
celecoxib, a COX-2 inhibitor.
 mTOR inhibitors STK11 modulates PI3-kinase signaling, which is a
key regulator of cell growth and survival. The mammalian target of
rapamycin, mTOR, is an important downstream regulator of PI3-
kinase signaling. Studies of Lkb1 ± mice have shown that treatment
with rapamycin reduced the number of intestinal hamartomatous
polyps.[39] [40] A clinical trial with the mTOR inhibitor RAD001
(everolimus) in humans was started, but was ended prematurely due
to the high prevalence of concurrent cancers among potentially
eligible patients