Öz
Abstract
Ectopia cordis is a rare malformation presenting as an isolated lesion or as part of the Cantrell’s pentalogy syndrome characterized by midline closure defects. A preterm male baby who did not have antenatal follow-up was born by caesarean section with evisceration of the heart and major parts of the intraabdominal organs. Combination of these findings suggested the diagnosis of Cantrell’s pentalogy. Despite intensive care, the patient died soon after the birth due to the poor clinical state. In order to make contribution to literature about this subject, this rare case of neonate with Cantrell’s pentalogy was reported. Antenatal diagnosis, appropriate antenatal care and delivery in a hospital that is capable for treatment is important for a better prognosis.
Keywords: Abdominal wall defect, Cantrell’s pentalogy, ectopia cordis, newborn
Özet
Ektopia kordis, izole bir lezyon olarak ya da orta hat kapanma defektleri ile karakterize Cantrell pentalojisinin bir parçası olarak ortaya çıkan nadir bir malformasyondur. Antenatal takibi olmayan preterm bir erkek bebek, kalp ve karın içi organların büyük bir kısmı vücudun dışında bir halde sezaryen ile doğurtuldu. Hastadaki bu bulguların birlikteliği Cantrell pentalojisi tanısını düşündürdü. Yoğun bakım desteğine rağmen klinik durumu kötüleşen hasta doğumundan kısa bir süre sonra kaybedildi. Cantrell pentalojisi tanısı konulan bu nadir yenidoğan vakası konu hakkında literatüre katkı sağlamak amacıyla sunuldu. Antenatal tanı, uygun antenatal bakım ve doğumun tedavi olanakları olan donanımlı bir merkezde yapılması ile prognoz daha iyi olacaktır.
Anahtar sözcükler: Karın duvarı defekti, Cantrell pentalojisi, ektopia kordis, yenidoğan
Anahtar Kelimeler
Kaynakça
- 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.
- Lopez JA, Lopez AG, Leon IH. Presentation and discussion of a patient with pentalogia of Cantrell. Cuban Rev Obstet Ginecol 2004; 30: 2.
- Skandalakis JE, Gray SW, Ricketts R, Skandalakis LJ. The Anterior Body Wall. In. Skandalakis JE, Gray SW (Eds). Embryology for surgeons. 2nd ed. Baltimore, MD: Williams and Wilkins 1994; pp: 552-9.
- 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.
- van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008; 167: 29-35.
- Kumar B, Sharma C, Sinha DD, Sumanlata. Ectopia cordis associated with Cantrell's pentalogy. Ann Thorac Med 2008; 3: 152-3.
- Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Infant with midline thoracoabdominal schisis and limb defects. Teratology 1998; 58: 205-8.
- Uygur D, Kiş S, Sener E, Günçe S, Semerci N. An infant with pentalogy of Cantrell and limb defects diagnosed prenatally. Clin Dysmorphol 2004; 13: 57-8.
- Bittmann S, Ulus H, Springer A. Combined pentalogy of Cantrell with tetralogy of Fallot, gallbladder agenesis, and polysplenia: a case report. J Pediatr Surg 2004; 39: 107-9.
- Sanchis Solera L, Beltra Pico R, Castro Sanchez M, Serrano Gonzalez A, Sanchez Lopez JM, Hernandez Navarro J, Arteaga Garcia R, Santana Ramirez R, Maldonado Artero J, Uroz Tristan J. Cantrell’s pentalogy: Complete treatment, step by step. Cir Pediatr 1992; 5: 101-4.
- Chen LJ, Wu JM, Yang YJ, Wang JN, Lin CS. Cantrell's syndrome in an infant. J Formos Med Assoc 1997; 96: 288-90.
- Liang RI, Huang SE, Chang FM. Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography. Ultrasound Obstet Gynecol 1997; 10: 137-9.
- Siles C, Boyd PA, Manning N, Tsang T, Chamberlain P. Omphalocele and pericardial effusion: possible sonographic markers for the pentalogy of Cantrell or its variants. Obstet Gynecol 1996; 87: 840-2.
- Denath FM, Romano W, Solcz M, Donnelly D. Ultrasonographic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature. J Clin Ultrasound 1994; 22: 351-4.
Öz
Abstract
Ectopia cordis is defined as an anomaly in which the fetal heart lies outside the thoracic cavity. It is a rare malformation presenting as an isolated lesion or as part of the Cantrell’s pentalogy syndrome that characterized by midline closure defects. The pentalogy of Cantrell is a rare syndrome with an estimated incidence of 5.5 per 1 million live births. It is described as a deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, various congenital intracardiac abnormalities, and a defect of the lower sternum. Because of its rarity, we report a case of neonate with Cantrell’s pentalogy and present a brief review of the literature.
Key words: Abdominal wall defect, Cantrell’s pentalogy, ectopia cordis, newborn
Özet
Ektopia kordis, fetal kalbin toraks boşluğu dışında bulunması ile tanımlanan bir anomalidir. İzole bir lezyon veya orta hat kapanma defektleri ile karakterize Cantrell pentalojisinin bir parçası olarak görülebilen nadir bir malformasyondur. Cantrell pentalojisi, 1 milyon canlı doğumda 5.5 sıklığında görülen nadir bir sendromdur. Bu pentalojide; diyafragmanın anterior parçasında eksiklik, orta hat supraumbilikal karın duvarı defekti, diyafragmatik perikardiyumda defekt, farklı konjenital intrakardiyak anormallikler ve sternum alt ucunda defekt vardır. Nadir görülmesi nedeniyle Cantrell pentalojisi tanısı konulan bir yenidoğan olgusu literatür bilgisi eşliğinde sunuldu.
Anahtar kelimeler: Karın duvarı defekti, Cantrell pentalojisi, ektopia kordis, yenidoğanAnahtar Kelimeler
Karın duvarı defekti Cantrell pentalojisi ektopia kordis yenidoğan
Kaynakça
- 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.
- Lopez JA, Lopez AG, Leon IH. Presentation and discussion of a patient with pentalogia of Cantrell. Cuban Rev Obstet Ginecol 2004; 30: 2.
- Skandalakis JE, Gray SW, Ricketts R, Skandalakis LJ. The Anterior Body Wall. In. Skandalakis JE, Gray SW (Eds). Embryology for surgeons. 2nd ed. Baltimore, MD: Williams and Wilkins 1994; pp: 552-9.
- 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.
- van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, Mulder AL. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008; 167: 29-35.
- Kumar B, Sharma C, Sinha DD, Sumanlata. Ectopia cordis associated with Cantrell's pentalogy. Ann Thorac Med 2008; 3: 152-3.
- Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Infant with midline thoracoabdominal schisis and limb defects. Teratology 1998; 58: 205-8.
- Uygur D, Kiş S, Sener E, Günçe S, Semerci N. An infant with pentalogy of Cantrell and limb defects diagnosed prenatally. Clin Dysmorphol 2004; 13: 57-8.
- Bittmann S, Ulus H, Springer A. Combined pentalogy of Cantrell with tetralogy of Fallot, gallbladder agenesis, and polysplenia: a case report. J Pediatr Surg 2004; 39: 107-9.
- Sanchis Solera L, Beltra Pico R, Castro Sanchez M, Serrano Gonzalez A, Sanchez Lopez JM, Hernandez Navarro J, Arteaga Garcia R, Santana Ramirez R, Maldonado Artero J, Uroz Tristan J. Cantrell’s pentalogy: Complete treatment, step by step. Cir Pediatr 1992; 5: 101-4.
- Chen LJ, Wu JM, Yang YJ, Wang JN, Lin CS. Cantrell's syndrome in an infant. J Formos Med Assoc 1997; 96: 288-90.
- Liang RI, Huang SE, Chang FM. Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography. Ultrasound Obstet Gynecol 1997; 10: 137-9.
- Siles C, Boyd PA, Manning N, Tsang T, Chamberlain P. Omphalocele and pericardial effusion: possible sonographic markers for the pentalogy of Cantrell or its variants. Obstet Gynecol 1996; 87: 840-2.
- Denath FM, Romano W, Solcz M, Donnelly D. Ultrasonographic findings of exencephaly in pentalogy of Cantrell: case report and review of the literature. J Clin Ultrasound 1994; 22: 351-4.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Haziran 2011 |
| Yayımlandığı Sayı | Yıl 2011Cilt: 33 Sayı: 2 |