Abstract: contribution to the literature. Case presentation: A

Abstract: Peutz-Jeghers
syndrome is an autosomal dominant disorder
characterized by hamartomatous polyps and mucocutanous pigmentation. Most
of polyps are localized in the small intestine cause jejuno-jejunal and
jejuno-ileal intussusceptions frequently in children. Endoscopic or surgical
treatment is necessary for large polyps while spontaneous reduction of
invagination caused by small polyps.

 In this report we
present a 25-year-old female patient who was admitted to our hospital with
symptoms of ileus for 8 days. Physical 
and endoscopic  findings revealed
the diagnosis of Peutz- Jeghers syndrome. Her complaints persisted despite
endoscopic polypectomy and she was underwent laporoscopic and surgical
treatment.

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Introduction: Peutz-Jeghers
syndrome (PJS) is a rare autosomal dominant herited disorder characterized by
hamartomatous polyps capable of holding the entire gastrointesinal tractus.
Most of the polyps are localized to the small bowel cause gastrointestinal
bleeding and iron defficiency anemia. Polyps are detected about 5-15% in adults as a rare cause of ileus. This
unusual presentation of a rare condition as multisegmentary and long segment involvement
in the patient may be a noteworthy contribution to the literature.

 

Case presentation:

A 25-year-female patient was admitted to our emergency
service with nause-vomiting, widespread colicky abdominal pain over one week.
She had a history of intermittent abdominal pain for the last eight years. On physical
examination she was afebrile and blood pressure of 110/70 mm Hg. There was
tenderness and guarding in the right iliac fossa and left-upper quadrant. Approximately
5 cm- diameter palpable mass was detected at right lower quadrant. Bowel sounds
were increased.

Blood investigations showed no anemia ( Hb: 12.3 gm/dl). Her
leukocyte count was increased 13.3×1000 cells/L. Except white spheres, all
other laboratory tests were normal. Intravenous fluids and antibiotics were
started to the patient.

Our patient had been previously diagnosed with PJS 8 years
before; endoscopically detected multiple polyps in stomach and mucocutanous hyperpigmentation.
She had the history of hospitalization for 5 times due to ileus but no surgical
treatment was performed. She had been hospitalized, kept under observation and
invaginated segment reducted spontaneously. In this hospitalization; there was
no specific feature on her abdominal plain radiograph (figure-1). Abdominal
ultrasonography revealed two target signs of invagination at left-upper and
right-lower quadrant. Intravenous and oral-rectal contrast enhanced CT exam was
performed. Long segment jejuno-jejunal and ileo-caecal  invagination with centralized mesenteric fatty
tissue and multipl lymphadenopathies  was
detected causing pre-obstructive dilatation with air-fluid levels in bowel
lumen (figure-2,3,4). A solid lesion 3 cm-diameter with peduncle not showing
contrast staining with supposed to be the swelling lesion at the level of the
left upper quadrant was detected on CT. Colonoscopy was performed and found multiple
milimetric sessile polyps in the distal part of ileum and whole colonic
segments. Altough polyps were removed endoscopically, her complaints continued
after colonoscopic polypectomy. Surgeons decided to laparoscopic surgery. The ileo-ileal
invaginated segment that 40 cm proximal of caecum was retracted by pulling
proximal and distal parts of the bowel by laparoscopically. Intra-operatively a
few pedunculated polyps were detected in the jejuno-jejunal invaginated segment
localized in the left upper quadrant. It was turned to the open surgery to make
resection and end to end anostomosis. Gross pathologic findings revealed a 30x20x15
mm, a 15x10x10 cm and two milimetric 
polypoid lesions. The resected segment was sent for histopathologic
exam. Multiple sections was studied from the polyps. Histopathological
examination revealed the hamartomatous polyps with adenomatous changes. There
was no evidence of any dysplasia and malignancy. (Figure 5).

There was no problem in her post-operative process and she
was discharged home on post-op. 4. day.

 

Discussion:  

Peutz-Jeghers syndrome is a rare autosomal dominant disorder
characterized by mucocutaneous hyperpigmentation, hamartomatous polyps of
gastrointestinal tract and multiple neoplasms. The incidence of the disease is
as one in 120,000 births. Fewer than 5% of patients with PJS lack the abnormal
mucocutaneous melanotic pigmentation, and fewer than 5% of patients with the
pigmentation have no PJ polyps 6. Our case is difficult to diagnose with PJS
due to lack of any pigmentation. Family history of PJS and colonoscopic
findings suggested the etiology.

Patients with
PJS commonly present with recurrent abdominal colicky pain caused by
invagination. This clinical presentation has been observed in 47% to 69%
of adult patients with PJS and most of them were due to polyps located in the
small intestine 7. The most of the cases reported in literature had
jejunal-ileal invagination while colonic is very rare (8,9,10,11). Our case had
colo-colonic intussusception with two other else small bowel segment
invagination. Abdominal colicky pain, tenderness is the most seen findings. Ct
imaging is very helpful for the detection of obstruction level and guiding for
the endoscopic or laparoscopic-surgical treatment.

Endoscopy has an important role in the diagnosis and
treatment phase of the disesase, reduces the need for surgery and small bowel
syndrome in the cases of multiple intussusception. Endoscopic removal is the
ideal method of treating a pedunculated polyp; however, when this is not
possible, laparoscopy can be a safe and effective alternative method for
reduction of the intussusception and bowel resection 12,13. In our case,
endoscopic polypectomy was insufficient cause of multisegmenter involvement so
that patient was underwent laparoscopic procedure. It could not be reached all
the invaginated segments by laparoscopically so that the operation was turned
to the open surgery. Partial jejunal- ileal resection and end to end
anostomosis was performed.

 

Conclusion:

Multisegmenter and
colonic intussusception in PJS is a different situation because of its
infrequency. Patients usually have recurrent, chronic and nonspesific symptoms.
Diagnosis is easy with the clinical and imaging findings. Endoscopic treatment
is the first choice for the young patients avoid of small bowel syndrome and
multiple surgeric procedures.

 It should be kept in
mind for PJS in patients with no mucocutanous pigmentation presented with
invagination.

 

Table 1. The characteristics of intussusception in adults
and children Adult intussusception Intussusception in children Frequency 5% of
all cases 95% of all cases Part of the bowel involved Commonly involves small
bowel Usually involved colon Symptoms Classical symptoms of intussusception are
not always present Classical symptoms are present in many cases Cause Caused by
malignancy (50%) or polyp Idiopathic due to lymphoid hyperplasia in Peyer’s
patches Treatment Treatment is usually resection of intussuscepted segment
without reduction (to prevent seedling of malignant cells) Treatment is
hydrostatic reduction and if needed manual reduction by lapar (8))

 

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