Akut peritonit sırasında tesadüfen fark edilen konjenital izole asplenia

Öz

Çok nadir görülen bir durum olan konjenital aspleninin 2 farklı tipi vardır: heterotaksi sendromları ve izole konjenital aspleni (ICA). Ivemark sendromu, asplenia, kalbin malformasyonları ve göğüs ve karındaki iç organların malpozisyonu ile karakterize heterotaksi sendromlarından biridir. ICA vakaları çocuklukta da ölümcüldür, ancak bildirilen canlı yetişkin vakaları mevcuttur. Etkilenenler tipik olarak fulminan sepsis için yüksek risk altındadır ve trombositoz ve mezenterik tromboz gibi bulaşıcı olmayan komplikasyon riski daha yüksektir. Burada ülser perforasyonuna bağlı peritonit için acil bir laparotomi sırasında tesadüfen saptanan doğuştan asplenisi olan bir hastanın olağandışı olgusunu sunuyoruz.

Anahtar Kelimeler

• Konjenital izole asplenia,Yetişkin peritoniti

Congenital isolated asplenia accidentally discovered during acute peritonitis

Abstract

An extremely rare condition, congenital asplenia has 2 distinct types: heterotaxy syndromes and isolated congenital asplenia (ICA). Ivemark syndrome is one of the heterotaxy syndromes characterized by asplenia, malformations of the heart, and malposition of internal organs in the chest and abdomen. ICA cases are also fatal in childhood, but there are reported living adult cases. Those affected are typically at increased risk for fulminant sepsis and carry a higher risk of noninfectious complications, such as thrombocytosis and mesenteric thrombosis. We herein report the unusual case of a patient with congenital asplenia, which was discovered fortuitously during an emergency laparotomy for peritonitis due to ulcer perforation.

Keywords

• Congenital isolated asplenia,Adult peritonitis

Kaynakça

1. 1. Ahmed SA, Zengeya S, Kini U, Pollard AJ. Familial isolated congenital asplenia: Case report and literature review. Eur J Pediatr. 2010;169(3):315–8.
2. 2. Arnautovic JZ, Mazhar A, Tereziu S, Gupta K. A Rare Association of Congenital Asplenia with Jejunal Arteriovenous Malformation. The American Journal of Case reports. 2017;18:1118.
3. 3. Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A. Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others. Eur J Pediatr. 2002;161:368–72.
4. 4. Schutze GE, Mason EO, Jr Barson WJ, Kim KS, Wald ER, Givner LB, et al. Invasive pneumococcal infections in children with asplenia. Pediatr Infect Dis J. 2002;21:278–82.
5. 5. Halbertsma FJJ, Neeleman C, Weemaes CM, Van Deuren, M. The absent and vanishing spleen: congenital asplenia and hyposplenism—two case reports. Acta Paediatrica. 2005;94(3):369-71.
6. 6. Mahlaoui N, Minard-Colin V, Picard C, et al. Isolated congenital asplenia: A French nationwide retrospective survey of 20 cases. J Pediatr. 2011;158(1):142–8.
7. 7. Bolze A, Mahlaoui N, Byun M et al. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science. 2013;340:976–8.
8. 8. Ferlicot S, Emile JF, Le Bris JL, et al. L’asplenie congenitale: Un deficit im- munitaire de l’enfant de decouverte souvent trop tardive. Ann Path. 1997;17:44–6.

9. 9. Gonzalez M, Collaud S, Gervaz P, Morel, P. Asplenie congenitale (syndrome d’Ivemark) revelee par une thrombose veineuse mesenterique chez un malade de 77 ans. Gastroenterologie Clinique et Biologique. 2007;31(10):860-2.
10. 10. Ferlicot S, Emile JF, Le Bris JL, Cheron G, Brousse N. Congenital asplenia. A childhood immune deficit often detected too late. Ann Pathol. 1997;17:44-6.
11. 11. Myerson RM, Koelle WA: Congenital absence of the spleen in an adult: Report of a case associated with recurrent Waterhouse-Friderichsen syndrome. N Engl J Med. 1956;254(24):1131-2.
12. 12. Vincentelli C, Molina EG, Robinson MJ. Fatal pneumococcal Waterhouse- Friderichsen syndrome in a vaccinated adult with congenital asplenia. Am J Emerg Med. 2009;27(751):e3–5.
13. 13. Rose C, Quesnel B, Facon T, et al. Congenital asplenia, a different dignosis of essential thrombocythemia. Presse Med. 1993;22(34):1748.
14. 14. Lindor NM, Smithson WA, Ahumada CA et al: Asplenia in two father-son pairs. Am J Med Genet, 1995; 56(1):10-1.
15. 15. Takahashi F, Uchida K, Nagaoka T, et al. Isolated congenital spleen agenesis: A rare cause of chronic thromboembolic pulmonary hypertension in an adult. Respirology. 2008; 13:913-5.