PeutzJeghers 998

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PEUTZ JEGHERS SYNDROME FAMILIAL ADENOMATOUS
POLYPOSIS
A Case History
Dr. P.C.Raju FRCSDr. Muthu Saravanan MSDr.
Mubarak MS
Saravana SurgeryCoimbatore, INDIA
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CASE HISTORY

• 23 Year old Female
• Admitted with abdominal pain
• Vomiting
• Obstipation
• Abdominal distention
• Surgery for obstruction ten years back
• Surgery for similar problem for her
  father earlier

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INVESTIGATIONS

• Revealed acute intestinal obstruction

MANAGEMENT

• Resuscitation
• Laparotomy
• Resection of Intussusception

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Melanin pigmentation in patients brother
Melanin pigmentation in patients brother
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Melanin pigmentation in the sole
Melanin pigmentation in the sole
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Melanin pigmentation lip of the patient
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Intestinal Obstruction Intussusception
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PEUTZ JEGHERS SYNDROME (FAMILIAL ADENOMATOUS
POLYPOSIS)

• DEFINITION
• Inherited autosomal dominant disorder
• Mucocutaneous melanotic pigmentation
• Gastro intestinal polyps

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ETIOLOGY

• Mutations in a novel serine threonine
  kinase locus 19P
• Germ line mutations in STK11 in conjunction
  with acquired genetic defects of the second
  allele in somatic cells cause the
  manifestations of P.J.Syndrome

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SALIENT FEATURES

• 1-2 mm brown or black pigmented spots on the
  corcumoral region, palms, soles and perianal
  region
• Multiple or single pigmented lesions
• Pigmentation appear in childhood and all
  cutaneous lesions may fade except for buccal
  lesions

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SALIENT FEATURES

• Polyposis with or without pigmentation
• Jejunum and ileum frequently involved
• 50 have rectal polyp and 25 have gastric polyp
  in addition
• Lesions are not true polyps but are hamartomas
• Malignant tumors of the GI tract associated with
  PJS are reported

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Common Symptoms and Signs

• Colicky abdominal due to intermittent
  intusussception
• Palpable mass
• Hemorrhage and anemia

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MANAGEMENT

• Resuscitation
• Surgery for obstruction and persistent
  bleeding.
• Resection limited to segment of bowel
  producing complications.
• Extensive resection avoided due to
  widespread disease

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COMPLICATIONS

• Intussusception
• Hemorrhage
• Malignat change

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ASSOCIATED LESIONS

• Ovarian cyst
• Sex cord tumors

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POLYPOSIS differential diagnosis

• Gardners syndrome
• Familial Juvenile Polyposis
• Familial Adnomatous Polyposis Coli

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CONCLUSION

• Peutz-Jeghers Syndrome usually presents
  as acute abdomen
• Screening of family members to detect the
  lesion
• Genetic counseling of prospective parents

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REFERENCES
1 . Br.J.Surg 1995 oct. 82(10) 1311-1314. 2 .
J.Pediatr 1995 jun 126(6) 965-967 3 . Mater med
Pol 1989 jan 21(1) 43-47 4 . Cancer Res 1997 sep
1 57(17) 3653-3656 5 . Nat Genet 1998 jan
18(1) 38-43