Ahmet KESKİN, Lale YILMAZ, Fatma TAMARA KÖROĞLU

Down Sendromu ile Konjenital Diyafram Hernisi Birlikteliği: Olgu Sunumu

Konjential diyafram hernisi nadir görülmekle birlikte morbiditesi ve mortalitesi yüksektir. Downsendromu ile birlikteliği saptanmış olup literatürde sınırlı sayıda olgu bildirilmiştir. Konjenital diyaframhernisinde semptomlar gastrointestinal ve solunum sistemi hastalıklarını taklit edebileceği için tanıdagecikme olmaktadır. Olgumuzda, doğumdan beri sık gastrointestinal şikayetleri olan ve sık alt solunumyolu enfeksiyonu geçiren Down sendromu olan bir hastaya 11 aylık iken Morgagni hernisi tanısıkonulmuştur. Bu olgu vasıtasıyla sık solunum sistemi enfeksiyonu geçiren ve özellikle eşlik edenkromozom anomalisi olan hastalarda konjenital diyafram hernisinin klinik bulgularını vurgulamayıamaçladık.

Coexistence of Down Syndrome and Congenital Diaphragmatic Hernia: A Case Report

Congenital diaphragmatic hernia is an uncommon disease with high morbidity and mortality rates. The coexistence of it with Down syndrome has been defined and a few case reports have been published in the literature. Congenital diaphragmatic hernia symptoms have similarities with those of gastrointestinal and respiratory system diseases causing a delay in diagnosis. In our case report, a patient who have had frequent gastrointestinal complaints and lower respiratory tract infections from birth has been diagnosed with Morgagni hernia at the age of eleven months. We aimed to emphasize on the clinical findings of congenital diaphragmatic hernia in patients especially with chromosomal anomalies who suffer from frequent respiratory tract infections via this case report.

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1. Yorgancı Ö, Yalaz M. Konjenital Diafragma Hernisi. Turkiye Klinikleri J Pediatr Sci 2013;9(1):82‐ 7.
2. Demirkaya A, Kaynak K. Bochdalek Hernisi’nde Tanı ve Cerrahi Tedavi. Turkiye Klinikleri J ThorSurg‐Special Topics 2010;3(1):18‐22.
3. Sakoda A, Matsufuji H. Current Management of Diaphragmatic Hernia. Kyobu Geka 2015;68(8):676‐83.
4. Kardon G, Ackerman KG, McCulley DJ ve ark. Congenital diaphragmatic hernias : from genes to mechanisms to therapies. Dis Model Mech 2017;10(8):955–70.
5. William R, Osebold MD, Robert T, Soper MD. Congenital posterolateral diaphragmatic hernia past infancy. Am J Surg 1976;131:748–54.
6. Centers for Disease Control and Prevention [İnternet] www.cdc.gov/ncbddd/ birthdefects/downsyndrome/data.html (Erişim Tarihi: 07.11.2018).
7. Honore LH, Torfs CP, Curry CJR. Possiblea ssociation between the Hernia of Morgagni and Trisomy 21. American Journal of Medical Genetics 1993;47:255‐6.
8. Elawad ME. Diaphragmatic hernia in Down’s syndrome. Annals of Tropical Paediatrics 1989;9:42‐4.
9. Parmar R C, Tullu M S, Bavdekar S B, Borwankar S S. Morgagni hernia with Down syndrome: a rare association ‐‐ case report and review of literature. J Postgrad Med 2001;47:188.
10. Beg MH, Rashidi ME, Jain V. Morgagni hernia with Down syndrome: a rare association. Indian J Chest Dis Allied Sci 2010;52(2):115‐7.
11. Taşkin GA, Tuncer O, Demir N ve ark. Association of Down syndrome and Morgagni hernia. Genet Couns 2014;25(3):345‐7.