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