CANTRELL PENTALOJİSİ: OLGU SUNUMU

Year 2017, Volume: 18 Issue: 4, 162 - 165, 16.10.2017

Efser Öztaş Sibel Özler Aykan Yücel Dilek Uygur Nuri Danışman

https://doi.org/10.18229/kocatepetip.368703

Abstract

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. 

Keywords

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

CANTRELL’S PENTALOGY: A CASE REPORT

Abstract

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

References

• 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.