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Year : 2003  |  Volume : 13  |  Issue : 2  |  Page : 145-146
Case report : Cantrell's pentalogy associated with encephalocele - a prenatal second trimester sonographic diagnosis


Dept. of Radiodiagnosis, GR Medical College and J.A. Group of Hospital, Gwalior-474009, India

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Keywords: Cantrell′s pentalogy, encephalocele, sonography

How to cite this article:
Yadav P, Mukherjee S, Sikarwar J S, Gupta R P. Case report : Cantrell's pentalogy associated with encephalocele - a prenatal second trimester sonographic diagnosis. Indian J Radiol Imaging 2003;13:145-6

How to cite this URL:
Yadav P, Mukherjee S, Sikarwar J S, Gupta R P. Case report : Cantrell's pentalogy associated with encephalocele - a prenatal second trimester sonographic diagnosis. Indian J Radiol Imaging [serial online] 2003 [cited 2019 Dec 9];13:145-6. Available from: http://www.ijri.org/text.asp?2003/13/2/145/28647
We report a case of pentalogy of Cantrell associated with encephalocele diagnosed prenatally in the second trimester.This congenital disorder described by Cantrell is characterized by two major defects: ectopia cordis and an anterior abdominal wall defect associated with disruption of three interposing structures: the distal sternum, anterior diaphragm, and diaphragmatic pericardium.There are variants of the classic form as well as many associated anomalies.


   Case Report Top


A 25 year old multigravida, married for six years with six months amenorrhea presented for routine prenatal ultrasound and estimation of gestational age. She had no history of bleeding, pain or any other complaints.Her obstetric history consists of two first trimester pregnancy losses of unknown etiology. The patient denied significant medical problems, as well as any known history of cardiac or other congenital anomalies in her family. She reported taking no medications.No contributing history of any kind was found.

On transabdominal sonography using a Wipro GE Pro 400 Series scanner with a 3.5 MHz microconvex probe, we found a single live fetus with measurements corresponding to 22 weeks gestational age. The placenta and amniotic fluid were grossly normal.An unusual finding was noted in the thoraco-abdominal region of the fetus.An anterior thoraco-abdominal wall defect was seen with the contents herniating in to the amniotic cavity covered by a thin sac.The sac contained liver and spleen along with few loops of intestine [Figure - 1]. Umbilical cord was attached to the tip of the omphalocele and demonstrated two vessels (one artery and one vein).Doppler studies showed a high resistance flow. The heart was seen to lie separately. The heart was four chambered and appeared normal along with the great vessels.No pleural or pericardial effusion was seen.The fetal kidneys were normally visualized.No fetal ascites was seen. All the extremities appeared normal

An encephalocele was found in the fetal head which presented with diagnostic difficulties [Figure - 2].The initial appearance of the encephalocele was like that of multiple loops of gut lying outside what seemed like the abdominal cavity.Only after very careful real time scanning could we delineate the gross brain anatomy and thus could confirm the herniated mass to be brain matter and the entity to be an encephalocele.There was no hydrocephalus.No facial anomalies were seen.


   Discussion Top


As discussed above, the unique association of omphalocele and ectopia cordis is the hallmark of this anomaly. Along with these two major defects are other consequential abnormalities of the structures interposed between the heart and omphalocele (i.e., defects of the lower sternum, anterior diaphragm, and diaphragmatic pericardium) plus intracardiac anomalies.There is equal prevalence among both sexes. [1]

This defect is believed to result from defective lateral mesoderm folds that form between 28 to 32 menstrual days.The transverse septum that gives rise to the diaphragm does not form and venteromedial migration of the paired upper abdominal mesodermal folds fails to occur, resulting in failure of ventral wall closure and incomplete external primordial band fusion.[1]

The most frequented anomalies are omphalocele, cardiovascular, and craniofacial anomalies. Among the associated cardiac anomalies are atrial septal defects (50%), ventricular septal defects (20%), and tetralogy of Fallot (10%). Other anomalies include ascites, two-vessel cord, clinodactyly, vertebral anomalies, kyphoscoliosis, low-set ears, micropthalmia, cleft lip, clubfeet, malrotation of colon, hydrocephalus, anencephaly along with other chromosomal abnormalities(particularly trisomy 13 and 18. This complex combination of anomalies has been seen in monozygotic twins. [3],[6],[7]

The defect of the abdominal wall can range from simple diastasis to huge omphaloceles with bowel,liver, and heart in the defect covered by a translucent membrane. The omphaloceles associated with this syndrome are usually located in a more cephalad position.The ectopic heart may either simply bulge out of the chest or be entirely out of the chest.Pleural or pericardial effusion may be seen.The diagnosis has been made as early as 17 weeks,but in some cases complicated by oligohydramnios,these cases may be missed entirely.Because of this bizarre clinical presentation,some cases may be mistaken for amniotic band syndrome(ABS).[2],[4]

The differentiation of Cantrell's pentalogy form other abdominal wall defects is extremely important.The differential diagnosis includes isolated thoracic ectopia cordis,amniotic band syndrome and body stalk anomalies.The key features for distinguishing these conditions is the position of abdominal wall defect in relation to the umbilical cord insertion,eviscerated organs,the presence or absence of membranes or bands,and associated anomalies.Omphalocele in Cantrell's pentalogy usually involves a midline defect at the umbilical cord insertion.An eccentric large lateral defect and adherence of the placenta to the defect are typically present in body stalk anomalies.The presence of an unexplained ventral wall defect along with extremity deformity with an adherent band suggests amniotic band syndrome. [5],[8]

Management includes a complete workup including karyotype and complete ultrasonographic search for other anomalies performed.Termination of pregnancy can be offered before viability.After viability ,periodic ultrasonographic evaluations of the lesions,fetal growth and delivery in a tertiary centre is recommended.Cesarean section delivery does not nessecarily improve the prognosis.[3][9]

 
   References Top

1.Angtuaco TL, Fetal. Anterior Abdominal Wall Defect, Ultrasonography in Obstetrics and Gynecology, Callen PW, 4th ed, 16:500-501  Back to cited text no. 1    
2.Ghidini A, Sirtori M, Romero R, Hobbins JC. Prenatal diagnosis of pentalogy of Cantrell. J Ultrasound Med 1988 Oct;7(10):567-72  Back to cited text no. 2    
3.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: 602-614.  Back to cited text no. 3    
4.Leon G, Chedraui P, Miguel GS. Prenatal diagnosis of Cantrell's pentalogy with conventional and three-dimensional sonography. : J Matern Fetal Neonatal Med 2002 Sep; 12(3):209-11  Back to cited text no. 4    
5.Spencer R, Robichaux WH, Superneau DW, Lucas VW Jr Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of Cantrell and an omphalopagus twin with atretic ventricles. Pediatr Cardiol 2002 Nov-Dec; 23(6):631-8  Back to cited text no. 5    
6.Morales JM, Patel SG, Duff JA, Villareal RL, Simpson JW Ectopia cordis and other midline defects. Ann Thorac Surg 2000 Jul; 70(1):111-4  Back to cited text no. 6    
7.Katranci AO, Gork AS, Rizalar R, Gunaydin M, qriturk E, Bernay F, Gurses N. Pentalogy of Cantrell. Indian J Pediatr 1998 Jan-Feb; 65(1):149-53  Back to cited text no. 7    
8.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 May; 87(5 Pt 2):840-2  Back to cited text no. 8    
9.Hsieh YY, Lee CC, Chang CC, Tsai HD, Hsu TY, Tsai CH Prenatal sonographic diagnosis of Cantrell's pentalogy with cystic hygroma in the first trimester. J Clin Ultrasound 1998 Oct; 26(8):409-12  Back to cited text no. 9    

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Correspondence Address:
P Yadav
C-27, Jawahar Colony, Kampoo, Gwalior,M.P-474009
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2]

This article has been cited by
1 Ectopia cordis and amniotic band syndrome
Pamidi, N., Vollala, V.R., Nayak, S., Bhat, S.
Archives of Medical Science. 2008; 4(2): 208-211
[Pubmed]



 

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