|Year : 2013 | Volume
| Issue : 3 | Page : 203-205
Pentalogy of Cantrell; complete expression in a nine-month-old-boy
Ibrahim Aliyu1, Mohammad Aminu Mohammad2
1 Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University, Kano, Nigeria
2 Department of Surgery-Paediatric Surgery Unit, Aminu Kano Teaching Hospital/Bayero University, Kano, Nigeria
|Date of Web Publication||5-Jul-2013|
Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University, Kano
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Pentalogy of Cantrell is a rare congenital malformation whose exact cause is not completely understood; it is characterized by defects in the anterior abdominal and thoracic walls consisting of omphalocoele, diaphragmatic defect, ectopia cordis, intracardiac defects and sternal clefts. The complex has variable clinical expression with complete and incomplete expressions reported. We, therefore, report a case of complete manifestation of the pentad in a 9-month-old boy.
Keywords: Cantrell, ectopia cordis, omphalocoele, pentalogy, sternal cleft
|How to cite this article:|
Aliyu I, Mohammad MA. Pentalogy of Cantrell; complete expression in a nine-month-old-boy. Niger Med J 2013;54:203-5
| Introduction|| |
Pentalogy of Cantrell is a rare multiple congenital malformation which occurs worldwide with a reported incidence of 5.5 per million live births.  The exact cause is not known but is mainly thought to be sporadic, though its being associated with some chromosomal disorders like trisomy 18 , and deletion on locus at Xq25-26 has been described in some cases.  It was first described by Cantrell et al., in 1958  with the pentad consisting of a giant omphalocoele and a supra-umbilical anterior abdominal wall midline defect, sternal cleft, ectopia cordis, intracardiac congenital malformations like ventricular septal defect, atrial septal defect and tetralogy of Fallot, ventral midline diaphragmatic defect with defect of the diaphragmatic pericardim.  Other associated defects include cranial and facial anomalies, clubfeet, malrotation of the colon, hydrocephalus and anencephaly. , Pentalogy of Cantrell often have a poor outcome which is dependent on the severity of the malformations.  Though some cases of pentalogy of Cantrell had been reported in Nigeria, its true prevalence is not known and none of those reported had been proven to completely fulfill the five main components of the pentad. ,, We, therefore, report a case of pentalogy of Cantrell in a 9-month-old boy who completely fulfilled the diagnostic criteria.
| Case Report|| |
A 9-month-old boy was first seen at the age of 5 months being delivered with multiple congenital malformations involving the anterior abdominal and chest walls. The child was delivered at term gestation and at home; the pregnancy was not adversely eventful and she had no antenatal care. However, the child has defect on the anterior abdominal wall with a huge swelling extending from the lower anterior abdomen to the lower anterior chest wall, which was pulsatile and covered by a thin membrane which was initially reddish at birth but later became thickened and darker following daily cleaning and dressing. There was no history of vomiting or constipation, child sucked directly from the breast, though interrupted occasionally to catch his breath, there was no history of difficulty with breathing and no darkening of the lips or mucous membrane. The mother was a 25-year-old stay at home mother with four other children in a non-consanguineous marriage; she neither smoked cigarette nor drank alcohol and had no adverse medical record. No similar problem was found in the family. On examination, there was a big pendulous and pulsatile mass extending from slightly above the symphysis pubis to the epigastrum measuring 12 × 10 cm [Figure 1] with an epithelised membranous covering; it had visible peristaltic waves, it was pundunculated, with cardiac pulsation felt in the epigastric region [Figure 2]. Bowel and heart sounds were heard over the mass below the level of the diaphragm. There was a lower sternal cleft with absence of the xiphoid process. He was not tachypneic or tachycardic and had first and second heart sounds with a systolic murmur. Bowel sounds were audible and normal. His chest X-ray showed a midline heart with inferior displacement [Figure 3], abdominal ultrasound showed the swelling to contain loops of bowl and echocardiography revealed a 6 mm secundum atrial septal defect. A diagnosis of pentalogy of Cantrell was made. The child is currently being followed up awaiting staged repairs of the defects.
|Figure 3: X-ray showing loops of bowl in the swelling with displacement of cardiac shadow|
Click here to view
| Discussion|| |
Pentalogy of Cantrell is commoner in boys and less than 60 cases have been documented so far worldwide as at 2007.  The exact mechanism is not completely understood, however, the proposed pathogenesis involves a defect in embryogenesis between 14 and 18 days after conception due to failure of the in folding of the lateral mesoderm. The severity of this disorder is quite variable from one individual to another. While most affected children die shortly after birth due to the severity of their defect (especially the associated intra-cardiac defect and risk of infection in open defects), it has been reported in a 32-year-old-man.  Our patient was 9-month-old and remained active despite the associated atrial septal defect and has better prospect with adequately staged surgical intervention. Our case had all the major features of the pentad, though with a relatively favourable lesion because the membrane of the giant omphalocoele was completely epithelised [Figure 4] and the peduncle covered with skin, which helped in preventing infection; furthermore, the atrial septal defect was of moderate size and the child had remained stable, though he stands the risk of trauma to the barely covered heart, but with proper counselling the child has survived up till this age.
|Figure 4: The mass covered by thickened, hyperpigmented keratinised membrane|
Click here to view
Pentalogy of Cantrell can be diagnosed prenatally but that has not been the case in those reported from Nigeria so far because lack of accessibility to a proper antenatal healthcare and for the fact that most of those diagnostic tools are not readily accessible to these low income parents.
| Conclusion|| |
Patients with complete expression of pentalogy of Cantrell are rare and few may survive to older age depending on the severity of the associated lesions, more especially the intracardiac defect. Furthermore, we advised that patients with giant omphalocoele should be thoroughly evaluated, because they may have an incomplete expression of the syndrome.
| References|| |
|1.||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. |
|2.||Soper SP, Roe LR, Hoyme HE, Clemmons JJ. Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: Case report. Pediatr Pathol 1986;5:481-3. |
|3.||Fox JE, Gloster ES, Mirchandani R. Trisomy 18 with Cantrell pentalogy in a stillborn infant. Am J Med Genet 1988;31:391-4. |
|4.||Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R. Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. Am J Med Genet 1994;49:431-4. |
|5.||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. |
|6.||Correa-Rivas MS, Matos-Llovet I, Garcia-Fragoso L. Pentalogy of Cantrell: A case report with pathologic findings. Pediatr Dev Pathol 2004;649-52. |
|7.||Morales JM, Patel SG, Duff JA, Villareal RL, Simpson JW. Ectopia cordis and other midline defects. Ann Thorac Surg 2000;70:11-14. |
|8.||Van-Hoorn JK, Moonen RM, Huysentruyt CJ, van-Heurn LW, Offermans JP, Mulder TA. Pentalogy of Cantrell: Two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 2008;167:29-35. |
|9.||Okafor HU, Oguonu T, Uwaezoke SN, Anusiuba BC. Variant of pentalogy of Cantrell in a live birth. Niger J Clin Pract 2011;14:106-8. |
|10.||Mukhtar-Yola M, Mohammad AM, Farouk ZL, Alhassan SU, Adeleke SI, Aji AA, et al. Pentalogy of Cantrell-A case report from Nigeria. Niger J Paediatr 2012;39:31-4. |
|11.||Sowande OA, Anyanwu JC, Talabi AO, Babalola OR, Adejuyigbe O. Pentalogy of Cantrell: A report of three cases. J Surg Tech Case Rep 2010;2:20-3. |
|12.||Falcão JL, Falcão SN, Sawicki WC, Liberatori FA, Lopes AC. Cantrell syndrome. Case report of an adult. Arq Bras Cardiol 2000;75:326-8. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]