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Læknablaðið - okt. 2018, Blaðsíða 13

Læknablaðið - okt. 2018, Blaðsíða 13
LÆKNAblaðið 2018/104 441 1. van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and sur- veillance recommendations. Am J Gastroenterol 2010; 105: 1258-64; author reply 65. 2. Georgescu EF, Stänescu L, Simionescu C, Georgescu I, Ionescu R, Florescu G. Peutz-Jeghers syndrome: case report and literature review. Rom J Morphol Embryol 2008; 49: 241-5. 3. Mozaffar M, Sobhiyeh MR, Hasani M, Fallah M. Peutz- Jeghers syndrome without mucocutaneous pigmentation: a case report. Gastroenterol Hepatol Bed Bench 2012; 5: 169-73. 4. Sökmen HM, Ince AT, Bölükbas C, Kilic G, Dalay R, Kurdas OO. A Peutz-Jeghers syndrome case with iron deficiency anemia and jejuno-jejunal invagination. Turk J Gastroenterol 2003; 14: 78-82. 5. Schulmann K, Pox C, Tannapfel A, Schmiegel W. The pati- ent with multiple intestinal polyps. Best Pract Res Clini Gastroenterol 2007; 21: 409-26. 6. McGarrity TJ AC, Baker MJ. Peutz-Jeghers Syndrome. Seattle (WA): University of Washington, Seattle, 1993-2018. 7. Lindor NM, Greene MH. The concise handbook of family cancer syndromes. Mayo Familial Cancer Program. J Natl Cancer Inst 1998; 90: 1039-71. 8. Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 1975; 136: 71-82. 9. Hinds R, Philp C, Hyer W, Fell JM. Complications of child- hood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr 2004; 39: 219-20. 10. van Lier MG, Mathus-Vliegen EM, Wagner A, van Leerdam ME, Kuipers EJ. High cumulative risk of intu- ssusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines?Am J Gastroenterol 2011; 106: 940-5. 11. Pétursdóttir K, Rósmundsson Þ, Hannesson PH, Möller PH. Garnasmokkun hjá börnum á Íslandi. Læknablaðið 2013; 99: 77-81. 12. Jeghers H, Mc KV, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. N Engl J Med 1949; 241: 1031-6. 13. Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol 2009; 23: 219-31. 14. Aaltonen LA. Hereditary intestinal cancer. Semin Cancer Biol 2000; 10: 289-98. 15. Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005; 26: 513-9. 16. Latchford AR, Neale K, Phillips RK, Clark SK. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum 2012; 55: 1038-43. 17. Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015; 110: 223-62; quiz 63. Heimildir Barst til blaðsins 16. apríl 2018, samþykkt til birtingar 3. júlí 2018. Gísli Gunnar Jónsson1 Jórunn Atladóttir1 In this case report we describe a patient with a confirmed diagnosis of Peutz-Jegher syndrome. A diagnosis made from a positive tissue sample from the small bowels and characteristic hyperpigmentation on the patient’s lips. This particular patient wasn’t diagnosed till he got intussusception which required an operation. There’s a possibility that the diagnosis could have been made earlier in the patient’s life because of the hyperpigmented macules on his lips in addition to frequent abdominal pain. Peutz-Jegher syndrome presenting with intussusception ENGLISH SUMMARY 1Surgical unit at Landspítali, University Hospital, Iceland. Key words: intussusception, hyperpigmentation, Peutz-Jegher syndrome. Correspondence: Gísli Gunnar Jónsson, gisligun@landspitali.is S J Ú K R A T I L F E L L I

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