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Citation: Mehrzi O, Sahli S, Habachi G, Fitouri F, Jouini R. Clinical criteria for Peutz-Jeghers syndrome diagnosis: Look for what is
missing.Jr.med.res.2020;3(3): 22-23. Mehrzi et al © All rights are reserved. https://doi.org/10.32512/jmr.3.3.2020/22.23
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Images in clinical practice
Mehrzi Oussema
1,2
, Sahli Sondes
1,2*
, Habachi Ghada
1,2
, Fitouri Fatma
1,2
, Jouini Riadh
1,2
.
Clinical criteria for Peutz-Jeghers syndrome diagnosis: Look for what is missing.
1: Pediatric Surgery department “A”, Children
Hospital, Tunis, Tunisia
2: College of medicine Tunis Tunisia
* Corresponding author
Correspondence to:
sondessahli@yahoo.fr
Publication Data:
Submitted: September 28,2020
Accepted: October 31,2020
Online: November 30,2020
This article was subject to full peer-review.
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The Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by
hamartomatous gastrointestinal polyposis and mucocutaneous melanin pigmentation. In
this report we discuss diagnostic circumstances of new PJS family.
Keywords:
Intestinal obstruction; intussusception; Peutz-Jeghers syndrome; polyps; surgery.
Introduction
PJS is characterized by autosomal dominant inheritance. This syndrome is caused by
mutations of the serine/threonine kinase 11 (STK11) tumor suppressor gene on the
chromosome 19p13.3. Most of PJS complications are related to the evolution of the
digestive polyps [1,2].
Observations
We report a case of a 14-year-old female with no personal or familial surgical history who
presented for severe abdominal pain and recurrent vomiting in the last 24 hours. Her
abdomen was distended tympanitic and tender. Investigation including abdomen X-rays
erect and abdominopelvic ultrasound demonstrated acute intestinal obstruction due to a
mass of the terminal ileum. The patient underwent a laparotomy. The findings were in
favor of small bowel obstruction due to ileo-ileal intussusception. Resection of devitalized
bowel and end to end anastomosis were performed (figure1). Postoperative course was
uneventful. The gross examination of the specimen showed a 4 centimeters polyp. The
histopathology confirmed its hamartomatous features. PJS was suspected. However, the
investigations performed including gastroscopy, colonoscopy, and enteroclysis ruled out
only one more small polyp of the left colon. The patient was assigned to regular follow up.
One month later, the patient’s 13-year-old brother presented to the emergency department
for obstructive syndrome. Physical examination revealed pigmentation of the lips and the
buccal mucosa (figure 2). This patient underwent a laparotomy. Ileo-ileal long
intussusception on huge polyp was found. The polyp was resected via enterotomy after
reduction (figure 3). There were no postoperative complications. The diagnosis of PJS was
confirmed for both siblings. More investigations for all the family members as well as
genetic study were indicated.
Discussion
Clinical diagnosis of Peutz-Jeghers syndrome is confirmed in the following situations: three
or more histologically confirmed Peutz-Jeghers polyps, any number of Peutz-Jeghers polyps
with family history of Peutz-Jeghers syndrome, characteristic mucocutaneous pigmentation
with a family history of Peutz-Jeghers syndrome, any number of Peutz-Jeghers polyps and
characteristic mucocutaneous pigmentation [3]. Small bowel intussusception in PJS is
widely described in the literature [4]. Suspected PJS cases should undergo exhaustive
screening for gastrointestinal polyposis. The capsule endoscopy seems to be more effective
in the small bowel exploration [5]. Sporadic PJS exist but this diagnosis should be retained
after clearance of the family members. In our report, the lack of some criteria did not allow
the PJS diagnosis confirmation in our first patient. Precise clinical investigation could always
rule out important diagnostic arguments such as the mucocutaneous pigmentation which
can subside with age [6]. In our pediatric practice, we believe that PJS must be considered
in each small bowel intussusception on a big polyp.
Abstract
Clinical criteria for Peutz-Jeghers syndrome diagnosis: Look for what is missing.
Citation: Mehrzi O, Sahli S, Habachi G, Fitouri F, Jouini R. Clinical criteria for Peutz-Jeghers syndrome diagnosis: Look for what is
missing.Jr.med.res.2020;3(3): 22-23. Mehrzi et al © All rights are reserved.
Submit your manuscript: www.jmedicalresearch.com
23
Figure 1: small bowel intussusception with beginner necrosis
Acknowledgment: A written informed consent was obtained from the parents before the publication.
Conflict of Interest: None
References
[1] Kılıç S, Atıcı A, Soyköse-Açıkalın Ö. Peutz-Jeghers syndrome: an unusual cause of recurrent intussusception in a 7-year-old boy. Turk J Pediatr. 2016; 58:535-37.
[2] Daniell J, Plazzer JP, Perera A, Macrae F. An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. Fam Cancer. 2018; 17:421-27.
[3] Sandy NS, Lomazi EA, Servidoni MF, Bellomo-BrandÃo MA. Peutz-Jeghers syndrome in resource limited scenario. Arq Gastroenterol. 2020; 57:227-31.
[4] Gharehdaghi M, Hassani M, Ghodsi E, Khooei A, Moayedpour A. Bacille Calmette-Guérin Osteomyelitis. Arch Bone Jt Surg. 2015; 3:291-95.
[5] Van de Bruaene C, De Looze D, Hindryckx P. Small bowel capsule endoscopy: Where are we after almost 15 years of use? World J Gastrointest Endosc. 2015; 7:13-36.
[6] Li Z, Song M, Jiang H, Zhou Y. Peutz-Jeghers syndrome complicated with intussusception in late pregnancy. Lancet Oncol. 2019;20: e729.
Figure 2: Lips pigmentation
Figure 3: Intraoperative features of huge ileal polyp.
