PEUTZ-JEGHERS SYNDROME IN CHILD-A RARE CASE REPORT WITH REVIEW OF LITERATURE

Sriram Bonu; R P Mishra; Rishav Raj

PEUTZ-JEGHERS SYNDROME IN CHILD-A RARE CASE REPORT WITH REVIEW OF LITERATURE

Sriram Bonu, R P Mishra, Rishav Raj

Abstract

Peutz jeghers syndrome is an autosomal dominant disorder associated with mucocutaneous pigmentation and gi polyps.Polyps are often a cause of intussusceptions in the affected patients.Malignancies of the gi tract,uterus and breast are common in patients with PJS.Longterm followup is required to prevent small bowel obstruction and intussusceptions in hildren and cancer in adults.We report a case of PJS presenting with jejunoileal intussusceptions in a 14 years old girl.

Keywords

Peutz jeghers syndrome ; mucocutaneous pigmentation ; intussusceptions.

References

Peutz JL.On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharynx accompanied by peculiar pigmentation of the skin and mucous membrane..Ned Tijdschr Geneeskd 1921 ; 10 : 134 – 46.

Jeghers H, Mc Cusick VA, Katz KH.Generalized intestinal polyposis and melanin spots of the oral mucosa,lips and digits.A syndromeof diagnostic significance.N Eng J Med 1949 ; 241 : 993 – 1005. https://doi.org/10.1056/NEJM194912222412501, PMid:15399020

Tomlinson IP , Houlston RS.Peutz-jeghers syndrome.J Med Genet 1997 ; 34 (12): 1007 – 11. https://doi.org/10.1136/jmg.34.12.1007

Boardman LA, Thibodeau SN , Lindor NM, et al.Increased risk for cancer in patients with peutz –jeghers syndrome.Ann Intern Med 1998 ; 128(11) : 896 – 9. https://doi.org/10.7326/0003-4819-128-11-199806010-00004, PMid:9634427

Spigelman, A D, Murday V, Phillips R K.Cancerand the peutz-jeghers syndrome.Gut 1989;30 (11): 1588 – 90. https://doi.org/10.1136/gut.30.11.1588, PMid:2599445, PMCid:PMC1434341

Swati BP, Biren JP, Hitesh AP, et al.Peutz-jeghers syndrome.Gujarat Med J 2013;68(2);106 – 8.

Lindor NM,Greene MH.The concise handbook of family cancer syndromes.Mayo Familial Cancer Programme.J Natl cancer inst 1998;90(14):1039 – 41. https://doi.org/10.1093/jnci/90.14.1039,

PMid:9672254

Giardello Fm,Hamilton.Increased risk of cancer in peutz-jeghers syndrome.N Engl J Med 1987;316(24):1511 – 4. https://doi.org/10.1056/NEJM198706113162404, PMid:3587280

Jenne DE, Reimann H, Nezu J.Peutz-jeghers syndrome is caused by mutations in a novel serine threonine.Nat Genet 1998;18(1):38- 43. https://doi.org/10.1038/ng0198-38, PMid:9425897

Hemminki A, Markie D, Tomlinson I.A serine-threonine kinase gene defective in Peutz-jeghers syndrome.Nature 1998;391(6663):184 – 7. https://doi.org/10.1038/34432, PMid:9428765

Hemminki A, Tomlinson I, Markie D.Localization of a susceptibility locus for Peutz-jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis.Nat Genet 1997;15(1):87 – 90. https://doi.org/10.1038/ng0197-87, PMid:8988175

Fernandez MJ,Martinez MI,Trabazo,Forteza Vila J.Peutz – jeghers syndrome in a neonate.J Paediatr 1995;126(6):965-7. https://doi.org/10.1016/S0022-3476(95)70224-5

Hinds R,Philp C,Hyder W,Fell JM.Complications of childhood peutz – jegher syndrome:implications for paediatric screening.J Paediatr Gastroenterol Nutr 2004;39(2):219-20. https://doi.org/10.1097/00005176-200408000-00027

Cecilia M,Fenoglio-Preiser: Peutz-jeghers syndrome.Gastrointestinal pathology:an atlas and text.3rd ed.Philadelphia:Lippincott Williams and Wilkin;2008.p.704-11.

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