American Journal of Pediatrics
Volume 6, Issue 3, September 2020, Pages: 268-272
Received: Jun. 17, 2020;
Accepted: Jul. 2, 2020;
Published: Jul. 13, 2020
Views 123 Downloads 46
Ni Nyoman Anik Cindi Yuliastini, Department of Child Health, Sanglah Hospital, Faculty of Medicine, Udayana University, Denpasar, Indonesia
I Made Kardana, Department of Child Health, Sanglah Hospital, Faculty of Medicine, Udayana University, Denpasar, Indonesia
Kadek Deddy Ariyanta, Department of Surgery, Sanglah Hospital, Faculty of Medicine, Udayana University, Denpasar, Indonesia
Pentalogy of Cantrell (PC) is a rare anomaly marked by the coexistence of omphalocele and ectopia cordis. Pentalogy of Cantrell comprises of the following five characteristics: midline, upper abdominal wall disorder (e.g. omphalocele, gastroschisis); defect of lower sternum (i.e. cleft sternum or absent sternum); anterior diaphragmatic defect (i.e. hypoplastic diaphragm, anterior diaphragmatic hernia); pericardial abnormality (e.g. ectopia cordis); congenital abnormalities of the heart (e.g. tetralogy of Fallot, ventricular septal defect, atrial septal defect). Toyama classified this syndrome into: class I – the occurrence of all 5 defects; class – II the occurrence of 4 defects with intracardiac and ventral abdominal wall abnormalities definitely present; class III – an incomplete expression of the disorders showing various combinations of defects, although sternal anomalies are definitely present. The incidence is estimated 5.5 – 7.9 per 1 million live births with male predominance. PC can be diagnosed since antenatal through ultrasonography examination. Unfortunately, the mortality rate is quite high with minimal survival rate even with surgical reconstruction. We present a case of one-day old infant whom was referred from West Nusa Tenggara with suspicion of PC syndrome and neonatal pneumonia. The baby was born through cesarean section with mild asphyxia, birth weight was 3000 gram and body length was 48 cm. There was no family and pregnancy risk factor. The multidisciplinary team consist of neonatologist, pediatric cardiologist and pediatric surgeon was teamed up to handle this case. There were some abnormalities in complete blood counts such as decreasing number of lymphocyte and neutrophil percentage and also increasing basophil percentage. Chest and abdominal X-ray showed a suspicion of pneumonia but this didn’t align with our physical examination. Echocardiography showed the infant had congenital heart defects such as Taussig Bing anomaly, single atrium, mild valvular pulmonary stenosis, mild tricuspid regurgitation and mesocardia. Genetic testing and further radiologic examination other than plain X-ray were not done in this case. There was no further intervention for this patient other than regular echocardiography and antibiotic topical treatment.
Ni Nyoman Anik Cindi Yuliastini,
I Made Kardana,
Kadek Deddy Ariyanta,
The Pentalogy of Cantrell: A Case Report, American Journal of Pediatrics.
Vol. 6, No. 3,
2020, pp. 268-272.
Cantrell, J. R., Haller, J. A., & Ravitch, M. M. A syndrome of congenital defects involving wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958: 602-14.
Sarkar, P., Bastin, J., Katoch, D., & Pal, A. Pentalogy of Cantrell: Diagnosis in the first trimester. J Obstet Gynaecol. 2005; 25 (8): 812-3.
Toyama, W. M. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: A case report and review of the syndrome. Pediatrics. 1972; 50 (5); 778-92.
Khoury, M. J., Cordero, J. F., & Rasmussen, S. Ectopia cordis, midline defects, and chromosomal abnormalities. Am J Med Genet. 1988; 30 (3); 811-7.
Bittmann, S., Ulus, H., & Springer, A. Combined pentalogy of cantrell with tetralogy of fallot, and gallbladder agenesis, and polysplenia: A case report. J Pediatr Surg. 2004; 39 (1): 107-9.
Morales, J. M., Patel, S. G., Duff, J. A., Villareal, R. L., & Simpson, J. W. Ectopia cordis and other midline defects. Ann Thorac Surg. 2000; 70 (1): 111-4.
Gubler, D. F., Berger, T. M., Pelikan, S., & Kohl, J. (2015, December). Pentalogy of cantrell. 1-13. Switzerland: Swiss Society of Neonatology. Retrieved from https://www.neonet.ch/files/9314/4239/1236/Cotm_December_2015.pdf.
Von Hoorn, J. H., Moonen, R. M., Huysentruyt, C. J., van Heurn, L. W., Offermans, J. P., & Mulder, A. L. Pentalogy of cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008; 167: 29-35.
Mendaluk, T., Moscicka, A., Mrozinski, B., & Szymankiewicz, M. The incomplete pentalogy of Cantrell - A case report. Pediatria Polska. 2015: 241-4.
Isik, O., Akyuz, M., Ayik, M. F., Koroglu, O. A., Ozyurek, A. R., & Atay, Y. Pentalogy of cantrell. J Clin Anal Med. 2014; 5 (3): 427-9.
Haynor, D. R., Shuman, W. P., & Brewer, D. K. Imaging of fetal ectopia cordis: Roles of sonography and computed tomography. J Ultrasound Med. 1984; 3 (1), 25-7.
Nanda, S., Nanda, S., Agarwal, U., Sen, J., & Sangwan, K. Cantrell syndrome - Report of two cases with one atypical variant. Arch Gynecol Obstet. 2003; 268 (2): 331-332.
Bryke, C. R., & Breg, W. R. Pentalogy of cantrell. In M. L. Buyse (Ed.), Birth defects encyclopedia. Blackwell Scientific Publications. 1990; 42: 1375-6.
Pamidi, N., Vollala, V. R., Nayak, S., & Bhat, S. Case report - Ectopia cordis and amniotic band syndrome. Arch Med Sci. 2008; 4: 208-11.
Celik, Y., Hallioglu, O., Basut, N., Demetgul, H., & Esin Kibar, A. A rare case of cardiac anomaly: Prenatally diagnosed ectopia cordis. Turk Pediatri Arsivi. 2015; 50: 129-131.
Shad, J., Budhwani, K., & Biswas, R. Thoracic ectopia cordis. BMJ Case Rep. 2012: 1-4.
Pius, S., Abubakar Ibrahim, H., Bello, M., & Bashir Tahir, M. Complete ectopia cordis: A case report and literature review. Case Rep Pediatr. 2017.
Jaffee, O. C., & Jaffee, A. L. Ectopia cordis in the chick embryo heart: An experimental study. Teratology. 1990; 41: 737-42.
Carmi, R., & Boughman, J. A. Pentalogy of cantrell and associated midline anomalies: A possible ventral midline developmental field. Am J Med Genet. 1992; 42 (1): 90-95.
Ghidini, A., Sirtori, M., Romero, R., & Hobbins, J. C. Prenatal diagnosis of pentalogy of cantrell. J Ultrasound Med. 1988; 7 (10): 567-572.
Baker, M. E., Rosenberg, E. R., Trofatter, K. F., Imber, M. J., & Bowie, J. D. The utero findings in twins pentalogy of cantrell. J Ultrasound Med. 1984; 3 (11): 525-527.
Smigiel, R., Jakubiak, A., Lombardi, M. P., Jaworski, W., Slezak, R., Patkowski, D., et al. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of cantrell - Case report and review of the literature. Am J Med Genet A. 2011; 155 (5): 1102-5.
Mass, S. M., Lombardi, M. P., van Essen, A. J., Wakeling, E. L., Castle, B., Temple, I. K., et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. 2009; 46 (10): 716-20.
Barrot, J. J., Cash, G. M., Smith, A. P., Barrow, J. R., & Murtaugh, L. C. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals and ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. Proc Natl Acad Sci USA. 2011; 108: 12752-7.
Marginean, C., Marginean, C. O., Gozar, L., Melit, L. E., Suciu, H., Gozar, H., et al. Cantrell syndrome - A rare complex congenital anomaly: A case report and literature review. Frontier in Pediatrics. 2018; 6: 2-6.
McMahon, C. J., Taylor, M. D., Cassady, C. I., Olutoye, O. O., & Bezold, L. I.. Diagnosis of pentalogy of cantrell in the fetus using magnetic resonance imaging and ultrasound. Pediatr Cardiol. 2007; 28 (3): 172-175.
Nischal, N., Arya, S., Puri, S. K., & Trehan, V. K. Untreated patient of pentalogy of cantrell surviving into the sixth decade: A unique case report. IHJ Cardiovascular Case Reports. 2018.
Doganay, S., Kantarci, M., & Tanriverdi, E. C. Pentalogy of cantrell with craniorachischisis: MRI and ultrasonography findings. Ultraschall Med. 2008 29 (5): 278-80.
Peixoto-Filho FM., Carneiro do Cima L., Nakamura-Pereira M. Prenatal Diagnosis of Pentalogy of Cantrell in the First Trimester: Is 3-Dimensional Sonography Needed?”. J Clin Ultrasound. 2009; 37: 112-4.
Zhang, X., XIng, Q., Sun, J., Huo, X., Kuang, M., & Zhang, G. Surgical treatment and outcomes of pentalogy of cantrell in eight patients. J Pediatr Surg. 2014; 49 (8): 1335-40.
Fernandez, I. S., Lopez, A., Vila, J. J., & Lluna, J. M. Cantrell's pentalogy: Report of four cases and their management. Pediatr Surg Int, 12 (5), 428-431.
Halbertsma, F. J., van, O. A., & Staak, F. (2002). Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. Cardiol Young. 1997; 12 (1): 71-4.
O'Gorman, C. S., Tortoriello, T. A., & McMahon, C. J. Outcome of children with pentalogy of cantrell following cardiac surgery. Pediatr Cardiol. 2009; 30 (4): 426-30.