PNG Med J 2011 Mar-Jun;54(1-2):53-55
Two cases of Peutz-Jeghers syndrome presenting as bowel obstruction
from intussusception
G. Gende1,2, M. Garo1 and O. Poki3
Port Moresby General Hospital and Mt Hagen General Hospital, Papua New Guinea
SUMMARY
Two unusual cases of small intestinal intussusception presenting as bowel obstruction
are presented. They both had freckle-like pigmentation of the perioral area, palms and
soles of the feet with intestinal polyps which acted as lead points in the intussusception.
Peutz-Jeghers syndrome was diagnosed. This report highlights the high risk of cancer of
the intestines and extra-intestinal sites associated with this interesting but rare condition.
Case 1
intussusception. In view of her X-ray findings
she was subjected to laparotomy.
The
findings were that of an obstructed but nongangrenous ileoileal intussusception. She
had bowel resection (Figure 1) with primary
intestinal anastomosis. Postoperatively her
recovery was smooth and uneventful. The
resected specimen had 6 pedunculated
polyps ranging in size from 1 cm to 5 cm. One
of the larger ones had acted as the lead point.
Histological examination confirmed a benign
hamartomatous polyp. Further questioning
did not reveal similar skin discoloration in
her other 3 siblings. The diagnosis of PeutzJeghers syndrome (PJS) was then made
A young girl aged 18 years from Enga
Province presented with colicky abdominal
pain with vomiting and melaena to the Port
Moresby General Hospital. She had had
a previous episode of abdominal pain but
this time it was severe and non-remitting.
Clinically she had a mobile mass in her
central abdomen. She had noticeable perioral
freckle-like pigmentation on her upper and
lower lips.
Per-rectal examination was
unremarkable. Plain erect abdominal X-ray
showed ‘step ladder’ pattern of bowel gas
shadows. Ultrasound examination confirmed
Figure 1. Resected specimen of Case 1 showing an ileoileal intussusception with an ulcerated benign polyp (arrow).
1 Port Moresby General Hospital, Free Mail Bag, Boroko, National Capital District 111, Papua New Guinea
[email protected]
3 Mt Hagen General Hospital, PO Box 36, Mt Hagen, Western Highlands Province 281, Papua New Guinea
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Volume 54, No 1-2, Mar-Jun 2011
PJS patients are at high risk of developing
intestinal and extra-intestinal cancers from the
third decade of life, and by 60 years 50% of
patients will have had a form of cancer (2).
The cancers are usually of gastrointestinal
origin such as small intestine (48%), stomach
(24%), colon (24%) and pancreas (5%),
as well as skin, breast and gynaecological
cancers. Follow-up of the original PJS family
showed that mean age at death was 32 years
compared to 69 years amongst unaffected
families (3).
upon the above findings.
Case 2
A 26-year-old young man from Ialibu
in the Southern Highlands presented with
acute bowel obstruction to the Mt Hagen
Hospital. After initial resuscitation and clinical
examination he was noted to have a tender
and distended abdomen with reduced bowel
sounds. He was also seen to have melanotic
pigmentation of the perioral area, palms and
feet. At laparotomy he had an obstructed
ileocaecal intussusception and went on to have
resection with primary ileocolic anastomosis.
The resected specimen revealed multiple
polyps.
There are some related but more common
conditions such as familial adenomatous
polyposis (FAP), Gardner’s syndrome
and Turcot’s syndrome which need to
be excluded.
None of these have the
characteristic pigmentation as in our cases
and PJS polyps are hamartomas whereas
FAP polyps are adenomas. Prophylactic
proctocolectomy is indicated in FAP because
all affected patients develop cancer by age 30.
Furthermore, all who are affected with polyps
should be regularly followed up clinically and
endoscopically for early cancer detection.
Discussion
This paper presents two patients with
similar presentations of abdominal pain with
or without obstruction, melaena, freckle-like
pigmentation of lips, palms and soles of the
feet and intestinal polyposis. They fulfilled
two out of the three diagnostic criteria for
Peutz-Jeghers syndrome:
The two patients above deny similar
illnesses among family members; however,
follow-up and a careful search for the
mucocutaneous hyperpigmentation may
reveal asymptomatic affected sibs. Sporadic
cases account for 30% and there is a positive
family history in 70% of cases.
1) Family history consistent with autosomal
dominant inheritance
2) Mucocutaneous hyperpigmentation
3) Small bowel polyposis.
We believe that the presentations of our
cases are characteristic of Peutz-Jeghers
syndrome (1), which occurs between the
ages of 10 and 30 years. There was no family
history of similar illness in the families of these
patients. Between the authors’ combined 23
years of surgical service that is an average of
one case in 11.5 years.
The patients were counselled regarding
the need for cancer screening for colorectal,
breast and gynaecological tumours.
note
Due to the unfortunate loss of the camera
containing the relevant picture of Case 1
showing perioral pigmentation, we cannot use
it but a good proxy may be found in Wolfe’s
Colour Atlas of the Digestive System (4).
PJS was first reported in 1921 and again in
1949 by J. Peutz and H. Jeghers, respectively.
It has a prevalence rate of 1 in 300,000 and is
thus a very rare condition. It is an autosomal
dominant disorder with the gene in most
families mapped to chromosome 19p13.3.
Clinical manifestations are usually promoted
by a second mutation on the other allele.
Moreover, this is the only germ-line mutation
linked to the serine-threonine kinase gene,
which is believed to be a tumour suppressor
gene. A few PJS phenotypes have a yet
unknown locus instead of the 19p13.3
chromosome mutation.
references
1 Baudendistel TE, Haase AK, Fitzgerald F. Clinical
problem-solving. The leading diagnosis – a 23-yearold black woman presented to the emergency
department with diffuse, colicky abdominal pain of 1
hour’s duration. N Engl J Med 2007;357:2389-2393.
2 UpToDate Inc. Peutz-Jeghers syndrome.
www.
uptodate.com/contents/search.do?search=Peutz-Je
ghers+syndrome&sp=0&searchType=0&source=US
ER_INPUT (Accessed 18 Nov 2009)
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3 Westerman AM, Entius MM, de Baar E, Boor
PP, Koole R, van Velthuysen ML, Offerhaus GJ,
Lindhout D, de Rooij FW, Wilson JH. PeutzJeghers syndrome: 78-year follow-up of the original
family. Lancet 1999;353:1211-1215.
4 Pounder RE, Allison MC, Dhillon AP. A Colour
Atlas of the Digestive System. London: Wolfe
Medical Publications, 1989:118.
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