Abstract: underwent laporoscopic and surgical treatment. Introduction: Peutz-Jeghers syndrome

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.

Ileo-caecal and colonic intussusception is rare entity in
adults with Peutz-Jeghers syndrome. In this report we present a 25-year-old
female patient who was admitted to our hospital with symptoms of ileus for 8
days. Family history and colonoscopic 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 tract. Most
of the polyps are localized to the small bowel cause gastrointestinal bleeding
and iron defficiency anemia. Only
5% to 15% 1, 2, 3
of intussusceptions occur in adults and they contribute to only 1% 4, 5
of all causes of intestinal obstruction. This unusual presentation of a
rare condition as colonic and multisegmentary involvement in the patient without
mucocutaneous pigmentation 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 three 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 3 years
before; she had the history of hospitalization for 5 times due to ileus but no
surgical treatment was performed. She had ben 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. Jejuno-jejunal, ileo-caecal and
colo-colonic invagination 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 polyps in the distal part of ileum and descenden colon.
Altough polyps were removed endoscopically, her complaints continued after
colonoscopic polypectomy. Surgeons decided to laparoscopic surgery. It was
retracted by pulling proximal and distal parts of the invaginated segment by laparoscopically.
The invaginated segment localized in the left upper quadrant  was not reached and it was turned to the open
surgery. Intra-operatively it was found a long-segment ileo-ileal and
jejuno-ileal intussusception- resected the intussuscepted segment and was
performed jejuno-ileal/ ileo-colonic anostomosis. Gross pathologic findings
revealed a 2.5x2x1.5 cm, a 1.5x1x1 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, without
evidence of any malignancy. Immunohistochemical examination showed branching
smooth muscle bands in the stroma of the polyp as typically seen in
hamartomatous polyps of PJS (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.