Peutz Jeghers Syndrome presented as intermittent gastric outlet obstruction and ileoileal intussusceptions
الملخص
Peutz Jeghers Syndrome (PJS), was first described in 1921 by Peutz1, followed by Jeghers et-al in
19492. It is characterized by muco-cutaneous melanin pigmentation, gastrointestinal hamartomatous
polyps. It is not rare, several cases have been reported3-7after the first description by Peutz in
19211,8. It is an autosomal dominant disease, one (PJS) locus has been mapped to chromosome
19p13.3, second locus is suspected on chromosome 19q13.4 in a minorities of families, the gene on
19p13.3 encodes the serine/thereonine kinase LKB19,10 . the patients of (PJS) is not only at higher
risk of developing gastrointestinal cancers ,but also other cancers like breast, thyroid, ovaries,
endometrial, pancreatic, and testicular tumours3,5,11,12. The Afro- Caribbean people are rarely
affected3,5. The polyps are most commonly located in the small intestine (64-96%), but occur also in
the stomach (24-49%), and in the colon (60%)13,14. These polyps vary in size from few millimetres
to several centimetres, with lobulated surface, they could be pedunculated or sessile15.
The clinical symptoms of the disease is recurrent abdominal pain, intestinal intussusception, ,
gastrointestinal bleeding with symptoms of iron deficiency anaemia, the symptoms usually takes
place in the second and third decade of life(6, 16).
The polyps may develop in extra-intestinal sites like, bronchus, oesophagus, nose, bladder, renal
pelvis, and ureters17. The pigmentation is usually muco-cutaneous, developing on the lips, buccal
mucosa, fingers, toes, and periocular pigmentation18.
The treatment is combined surgical endoscopic approach using intra-operative endoscopy or
combined push enteroscopy and intra operative endoscopy have been recently advocated21,22. The
malignant changes of hamartomatus polyps and other organs cancers have been reported in patients
with (PJS)23.
The aims of presenting this case here is that, the polyps in (PJS) could cause gastric outlet
obstruction and intestinal obstruction.
المراجع
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