Efser ÖZTAŞ, Sibel ÖZLER, Aykan YÜCEL, Dilek UYGUR, Nuri DANIŞMAN

32419

CANTRELL PENTALOJİSİ: OLGU SUNUMU

Cantrell pentalojisi; supraumbilikal torako-abdominal duvar defekti, diyafram ön kısmının olmaması, perikardın diyaframla ilişkili parçasının olmaması, sternum alt bölgesinde defekt ve kalp anomalileri ile tanımlanan, nadir görülen ve postnatal dönemde mortalite oranı yüksek seyreden bir doğumsal malformasyondur. Etyopatogenezi tam olarak bilinmese de gebeliğin erken haftalarında lateral mezodermin migrasyonundaki yetersizliğe ya da eksikliğe bağlı olduğu düşünülmektedir. Migrasyon yetersizliğindeki defekte ve oluştuğu gestasyonel haftadaki değişikliğe bağlı olarak, yukarıda sayılan beş ana fenotipik bulgu her zaman görülmeyebilir. Cantrell pentalojisi, kendi arasında görülen fenotipik özelliklere göre üç sınıfa ayrılır. Bu olgu sunumunda kistik higroma, ektopia kordis, atrioventriküler septal defekt ve omfalosel nedeniyle sevk edilen ve Cantrell pentalojisi tanısı konulan 13 haftalık bir gebelik tarif edilmiştir. 
Anahtar Kelimeler:

Cantrell pentalojisi, ektopia kordis, abdominal duvar defekti, kistik higroma

CANTRELL’S PENTALOGY: A CASE REPORT

Cantrell’s pentalogy is a rare congenital malformation which consists of the supraumbilical abdominal wall defect, the defect in the lower sternum, the agenesis of the anterior portion of the diaphragm, the absence of the diaphragmatic part of the pericardium, and the structural cardiac anomaly. This congenital malformation has a high mortality rate of in the postnatal period. Its etiopathogenesis is not yet certain. It is thought to be due to the lack or inadequacy of the migration of lateral mesoderm in the early weeks of pregnancy. Five main phenotypic findings of Cantrell’s pentalogy may not always be present in the affected cases because of the alterations in the migration defects. The subjects diagnosed with Cantrell’s pentalogy can be examined in three categories based on the phenotypic features. This is a case report of a 13-week-old pregnancy which is diagnosed with Cantrell’s pentalogy due to the presence of cystic hygroma, ectopia cordis, omphalocele and atrioventricular septal defect.
Keywords:

Cantrell’s pentalogy, ectopia cordis, abdominal wall defects, cystic hygroma,

PDF

___

  • Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 1958; 107: 602-14.
  • Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart. A case report and review of the syndrome. Pediatrics 1972; 50: 778-86.
  • Bognoni V, Quartuccio A, Quartuccio A. First trimester sonographic diagnosis of Cantrell’s pentalogy with exencephaly. J ClinUltrasound 1999; 27: 276-8.
  • Nanda S, Nanda S, Agarwal U, Sen J, et all. Cantrell’s syndrome - report of two cases with one atypical variant. Arch Gynecol Obstet 2003; 268: 331-2.
  • Gun I, Kurdoglu M, Mungen E, et al. Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: The Role of Three Dimensional Sonography? J Clin Ultrasound 2009; 38: 446-9.
  • vanHoorn JH, Moonen RM, Huysentruyt CJ, et al. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008; 167: 2935.
  • Kaul B, Sheikh F, Zamora IJ, et al. 5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell. J Surg Res 2015; 199(1): 141-8.
  • Mallula KK, Sosnowski C, Awad S. Spectrum of Cantrell’s pentalogy: case series from a single tertiary care center and review of the literature. Pediatr Cardiol 2013; 34(7): 1703-10.
  • Cakiroglu Y, Doger E, Yildirim Kopuk S, et al. Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy. Case Rep Obstet Gynecol. 2014; 2014: 314284.
  • Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet 1992; 42: 90-5.
  • Smigiel R, Jakubiak A, Lombardi MP, et al. Co-occurrence of severe Goltz-Gorlinsyndromeandpentalogy of Cantrell - Case reportandreview of theliteratüre. Am J Med Genet 2011; 155A(5): 1102-5.
  • Fox JE, Gloster ES, Mirchandani R. Trisomy 18 with Cantrell pentalogy in a stillborn infant. Am J Med Genet 1988; 31(2): 391–4.
  • Marino AL, Levy RJ, Berger JT, Donofrio MT. Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease. Pediatr Cardiol 2011; 32: 498–502.
  • Akhtar K, Sultan M, Ahmed W, Ullah M, Sadiq N. Successful surgical repair of pentalogy of cantrell at 14 months of age. J Coll Physicians Surg Pak 2014; 24 Suppl 2: S129-31.
  • Zhang X, Xing Q, Sun J, Hou X, Kuang M, Zhang G. Surgical treatment and outcomes of pentalogy of Cantrell in eight patients. J Pediatr Surg 2014; 49(8): 1335-40.
Kocatepe Tıp Dergisi-Cover
  • ISSN: 1302-4612
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1999
Arşiv
Sayıdaki Diğer Makaleler

CANTRELL PENTALOJİSİ: OLGU SUNUMU

Efser ÖZTAŞ, Sibel ÖZLER, Aykan YÜCEL, Dilek UYGUR, Nuri DANIŞMAN