Deshpande, Aparna

Joshi, Amita

Thakker, Hardik H

English

PubMed

Hardik H Thakker

Amita Joshi

Aparna Deshpande

Springer - Publisher Connector

Case report
Open Access
Peutz-Jegher’s syndrome presenting as jejunoileal intussusception
in an adult male: a case report
Hardik H Thakker1*, Amita Joshi2 and Aparna Deshpande3
Addresses: 1Seth G S Medical College and KEM hospital, Parel, Mumbai 400012, India
2Department of Pathology, Seth G S Medical College and KEM hospital, Parel, Mumbai 400012, India
3Department of General Surgery, Seth G S Medical College and KEM hospital, Parel, Mumbai 400012, India
Email: HHT* - hardikthakker@hotmail.com; AJ - drjoshiamita@yahoo.co.in; AD - draparnadeshpande@yahoo.com
*Corresponding author
Received: 16 October 2008 Accepted: 23 February 2009 Published: 11 August 2009
Cases Journal 2009, 2:8865 doi: 10.4076/1757-1626-2-8865
This article is available from: http://casesjournal.com/casesjournal/article/view/8865
© 2009 Thakker et al.; licensee Cases Network Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Introduction: Peutz-Jegher’s syndrome is a rare autosomal dominant disorder that typically
manifests itself as recurrent colicky abdominal pain and blood loss in stools. In adults, it is only rarely
accompanied by frank intussusception and intestinal obstruction. We encountered an adult Asian
Indian male who presented with an intestinal obstruction due to jejunoileal intussusception. It was
caused by a 3.5 cm large hamartomatous polyp of Peutz-Jegher’s syndrome. We feel reporting the
unusual presentation of this rare condition may be a noteworthy contribution to the scarce literature
on Peutz-Jegher’s syndrome from India. The case report may be of educational importance to the
clinicians and students because it is unusual to see this case in typical clinical practice.
Case presentation: A 38-year-old Asian Indian male presented to us in the surgical emergency
room with colicky abdominal pain, reporting vomiting and blood in stools over the previous two
days. Clinical examination suggested intestinal obstruction. Ultrasonography of the abdomen showed
signs of intussusceptions, which were then confirmed by an emergency exploratory laparotomy. We
resected the intussuscepted small bowel segment and performed a jejuno-ileal anastomosis. A
histopathology examination of the resected specimen revealed multiple hamartomatous polyps
suggestive of Peutz-Jegher’s syndrome. In this case report, we present the pathology findings, their
clinical correlation and a detailed discussion of Peutz-Jegher’s syndrome and adult intussusception.
We also discuss its other rare presentations reported in literature.
Conclusion: Hamartomatous polyps of Peutz-Jegher’s syndrome can sometimes grow to a large size
and form the lead point of an intussusception.
Introduction
Peutz-Jegher’s syndrome is a rare autosomal dominant
disorder with variable penetrance. It is characterized by
mucocutaneous hyperpigmentation, hamartomatous
polyps of the gastrointestinal tract andmultiple neoplasms.
It commonly presents as recurrent colicky abdominal pain
and blood loss in stools. An adult Asian Indian patient
presented to us with an intestinal obstruction. This
was secondary to a large hamartomatous jejunal polyp
causing intussusception. Only 5% to 15% [1,2,3] of
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intussusceptions occur in adults and they contribute toonly
1% [4,5] of all causes of intestinal obstruction. A report of
this unusual presentation of a rare condition may be a
noteworthy contribution to the scarce literature on Peutz-
Jegher’s syndrome from India.
Case presentation
A38-year-Asian Indianmalepresented tous in theemergency
room with colicky abdominal pain in left lower and
umbilical area, vomiting and blood in stools over the
previous 2 days. He did not have a history of fever. He had a
history of intermittent abdominal pain over the previous 2
months. His family history was not significant. On examina-
tionhewas afebrile,withapulseof92/minregular andblood
pressure of 130/88 mm Hg. The lower labial and buccal
mucosa showed hyper pigmentation bilaterally (Figure 1).
Therewas tenderness andguarding in the left iliac fossa. There
was no lump, organomegaly or free fluid. Hernial orifices
were normal. However, bowel sounds were increased.
Blood investigations showed severe anemia (Hb: 7 gm/dl).
A plain x-ray of the abdomen was unremarkable. Abdom-
inal ultrasonography showed two echo complex areas with
concentric rings and target appearance: one in the left
lumbar region and the other one of size 3.5 cm×5 cm in the
hypochondriac. This was suggestive of an intussusception.
We started the patient on intravenous fluids and anti-
biotics. We inserted a nasogastric tube and transfused him
with two units of whole blood. We then performed an
emergency exploratory laparotomy. Intra-operatively we
found a one-foot-long segment of jejuno-ileal intussus-
ception, extending approximately three feet distally from
the duodenojejunal flexure. We resected the intussus-
cepted segment and performed a jejuno-ileal anastomosis.
We found multiple polyps on the jejunal resection
margins. We sent the resected segment for histopathology
examination. We then placed a drain and closed the
abdomen. His recovery in the wards was uneventful. We
discharged him 8 days after the surgery.
Gross pathology findings
The specimen of small intestine was 32 cm in length, with
grey serosa and unremarkable cut section. There was no
evidence of gangrenous changes. The mucosa was lined by
multiple polyps that were scattered and on average
measuring approximately 1 cm in diameter. A single
large pedunculated polyp measuring 3.5 cm in diameter
was attached to the mucosa with a stalk 1.1 cm in length,
located 2 cm from the proximal resected margins. The
polyps were reddish grey in color (Figure 2).
Histopathology
Multiple sections studied from the polyps showed features
of hamartomatous polyps, composed of glands separated
by a band of smooth muscles (Figure 2). There was no
evidence of atypia or malignancy. Lymph nodes showed
reactive hyperplasia.
Diagnosis
Peutz-Jegher’s Syndrome.We subjectedhim to regular follow
up and a strict surveillance for other neoplasms common in
Peutz-Jegher’s syndrome. We could not carry out a mutation
analysis for STK 11/LKB 1 gene due to lack of resources.
Discussion
The occurrence of adult intussusception is rare [1,2,3]. Its
characteristics in adults are different from its characteristics
in children in some notable respects as indicated in
Table 1. Peutz-Jegher’s syndrome is a rare autosomal
disorder with variable penetrance characterized by muco-
cutaneous hyper pigmentation, hamartomatous polyps of
Figure 1. Shows clinical photographs of the patient with
labial and buccal hyperpigmentation.
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Cases Journal 2009, 2:8865 http://casesjournal.com/casesjournal/article/view/8865
gastrointestinal tract and multiple neoplasms. The diag-
nostic criteria for the syndrome are as follows: a) Three or
more histologically confirmed Peutz-Jegher’s polyps or
b) Any number of Peutz-Jegher’s polyps with a family
history or c) Characteristic prominent mucocutaneous
pigmentation with a family history or d) Any number of
Peutz-Jegher’s polyps with characteristic prominent
mucocutaneous pigmentation. It commonly presents as
recurrent colicky pain in abdomen and blood loss in
stools. The polyps in this condition are hamartomatous
and rarely undergo malignant transition but a few such
cases have been reported in literature [6]. The patients are
prone to many extra intestinal tumors like testicular sertoli
tumors, ovarian tumors like sex cord tumors with annular
tubules, granulose theca cell tumors, cystadenomas, breast
tumors like breast carcinoma, papilloma with squamous
metaplasia, cholangioma, pancreatic adenocarcinoma,
adenoma malignum, bronchial carcinoids, papillomas in
bladder and pelvis [7]. Patients observed with such
conditions need to be placed under regular surveillance
to facilitate early detection and regular followup.
Patients may also have other non neoplastic extra
intestinal lesions like nasal polyps, gall bladder polyps,
nodular goiter and adrenal cortical hyperplasia [7].
Recently, gene mutation studies have proved that muta-
tion in Serine Threonine kinase gene STK 11/LKB 1 located
on 19p.13.3 [8], is the cause of Peutz-Jegher’s. However,
the exact mechanism by which it affects protein synthesis
and causes polyp formation is yet to be elucidated. Cases
of intussusception in Peutz-Jegher’s have been reported in
children [9,10,11] but have been rare in adults. Cases of
Peutz-Jegher’s with carcinoid [12], duodenal [13] and
gastric [14] carcinomas have also been reported.
Correlation of pathologic findings
The largest polyp measuring 3.5 cm in size was the lead
point causing telescoping of jejunum into ileum, thereby
causing abdominal pain, guarding and currant jelly stools.
The anemia could be attributed to bleeding from the
multiple hamartomatous polyps, but we could not rule
out other causes like ulcer disease, and iron deficiency.
Future advances
Once the exact mechanism by which mutations in STK
11/LKB1 cause Peutz-Jegher’s Syndrome is known, it will
open doors of advance treatment modalities like gene
therapy.
Figure 2. Shows a gross pathology photograph of the resected
segment of the small bowel with a large hamartomatous polyp.
This polyp formed the lead point for intussusception. It also
shows a low power microscopic view of a hamartomatous
polyp stained with Hematoxylin and Eosin.
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 laparotomy, resection not needed unless
gangrene sets in
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Cases Journal 2009, 2:8865 http://casesjournal.com/casesjournal/article/view/8865
Conclusion
Hamartomatous polyps of Peutz-Jegher’s syndrome can
sometimes grow to a large size and form the lead point of
an intussusception.
Abbreviation
Hb, haemoglobin.
Consent
Written informed consent was obtained from the patient
for publication of this case report and accompanying
images. A copy of written consent is available for review by
the editor-in-chief of this journal.
Competing interests
The authors declare that they have no competing interests.
Authors’ contributions
HHT carried out a review of the literature, investigated the
patient case records, obtained clinical, gross pathology and
histopathology pictures, drafted and obtained informed
consent from the patient, obtained no objection letter
from the Ethics Committee, drafted the manuscript. AD
performed an initial evaluation of patient, operated on
him, helped in the review of the literature, contributed to
the clinical aspects of the case and editing of the
manuscript. AJ performed gross and histopathology
examination of the resected gut specimen, contributed to
the pathology findings of the report and helped in the
review of the literature and editing of the manuscript. All
authors read and approved the final manuscript.
Acknowledgements
We wish to thank the patient for his cooperation and
consent for permitting us to use his medical records and
clinical photographs for this case report. (A written
informed consent was obtained for the purpose).
We also thank the Dean of Seth G S Medical College and
KEMHospital, and associated staff for permitting us to use
the medical records of the patient for this case report and
to publish it. A special thanks to the Ethics Committee of
the hospital for their co-operation. (A no objection letter
was obtained from the Ethics Committee of KEM Hospital
for submitting the case report).
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Peutz-Jegher's syndrome presenting as jejunoileal intussusception in an adult male: a case report

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Peutz-Jegher’s syndrome presenting as jejunoileal intussusception in an adult male: a case report

Peutz-Jegher’s syndrome presenting as jejunoileal intussusception in an adult male: a case report

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