Journal of Womens Health, Issues and Care ISSN: 2325-9795

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Case Report, J Womens Health Issues Care Vol: 4 Issue: 4

Pentalogy of Cantrell: A Case Report Diagnosed Using Antenatal Ultrasound in Conakry (Guinea)

Leno DWA1*, Sy T2, Camara MK1, Tolno J1, Hyjazi Y1 and Keita N1
1Department of Obstetrics and Gynaecology, Donka National Hospital, Conakry University Hospital, Guinea
2Department of Obstetrics and Gynaecology, Ignace Deen National Hospital, Conakry University Hospital, Guinea
Corresponding author : Leno Daniel William Athanase
Assistant Head of Clinic, Department of Obstetrics and Gynaecology, Donka National Hospital, Conakry University Hospital, Guinea
Tel: (+ 224) 622 56 65 50
E-mail: [email protected]
Received: January 27, 2015 Accepted: June 30, 2015 Published: July 03,2015
Citation: Leno DWA, Sy T, Camara MK, Tolno J, Hyjazi Y, et al. (2015) Pentalogy of Cantrell: A Case Report Diagnosed Using Antenatal Ultrasound in Conakry (Guinea). J Womens Health, Issues Care 4:4. doi:10.4172/2325-9795.1000196

Abstract

Optimal Characteristics of an Obstetric Anesthesia Paper vs. Electronic Hand-Off Tool

Pentalogy of Cantrell (PC) is a rare multiple malformative syndrome which combines five fetal malformations. We report a case of Pentalogy of Cantrell in its complete form associated with a labio palatine cleft diagnosed using an antenatal ultrasound in a context of premature rupture of membrane at 24 gestational weeks. The spontaneous vaginal delivery had resulted in the birth of a female stillborn infant. The post mortem examination had confirmed the antenatal diagnosis as enabled to objectify a right talipes équinovarus. The fetal prognosis, which is poor, must be explained to the patient in order to make a decision of medical termination of pregnancy.

Keywords:

Keywords

Pentalogy of cantrell; Antenatal ultrasound; Guinea

Introduction

The Pentalogy of Cantrell (PC) is an extremely rare congenital abnormality, described for the first time by Cantrell and his associates in 1958 [1]. It is part of the major upper coelosomies. The Pentalogy of Cantrell combines five cardinal malformations: a supra umbilical hernia of the abdominal wall, a defect of the anterior part of the diaphragm, a defect of the diaphragmatic pericardium, an abnormality of the lower part of the sternum and heart malformations (2). Antenatal diagnosis is possible through ultrasound from the 12th gestational week. The prognosis of this disease is poor. The medical termination of pregnancy (MTP) is a therapeutic alternative in some cases.
We report a case of PC in its complete form associated with a labiopalatine cleft and a right talipes equinovarus. Through this first documented case of PC along with Conakry Donka National Hospital Antenatal Diagnosis Unit and based on a review of the literature, the authors support the different pathogenic, diagnostic and prognostic aspects of this malformation.

Materials and Methods

Ms. C.S. 25 years old primigravida, Primiparous, had come for an emergency consultation in our department for fluid loss at the end of 24 gestational weeks (GW) according to the date of last menstrual period (LMP). She had no particular history, the husband was 32 years old, and there was no consanguinity relationship in the couple. It was a spontaneous pregnancy. The prenatal consultation and the serology performed at 16 gestational weeks (GW) were normal. However, the patient did not do a 1st trimester screening ultrasound. The examination with the speculum had confirmed the fluid loss. Obstetrical ultrasound had indicated a decrease in the amount of amniotic fluid with a large cistern of 15 mm. It was a female fetus with biometrics (Bi-parietal, cephalic perimeter and femoral length) complying with a gestational age of 24 GW + 3 days. The morphological examination emphasized in the amniotic cavity a rounded mass, measuring approximately 71 mm x 58.9 mm, delineated by a thin membrane of 4 mm, having a heterogeneous content with the presence of the liver, small intestines, heart and large vessels evoking an omphalocele (Figure 1). This omphalocele was connected to the supra umbilical side by a large defect of about 50 mm through which one could see a portion of the large vessels (Figure 2). Cardiac activity was normal with a fetal heart rate of 164 beats per minute. The thorough examination of the heart had emphasized a transposition of the large vessels. The chest was very narrow with the presence of a very marked thoracic lordosis. Examination of the face had showed a labiopalatine cleft of 20 mm wide (Figure 3). The diaphragm had not been viewed. In summary, it was a premature rupture of the membranes of 8 hours on a monofetal pregnancy of 24 GW + 3 days with foetus carrier of a Pentalogy of Cantrell in its complete form associated with a labiopalatine cleft. Clear and precise information had been issued to the patient on the poor prognosis of the malformation. The patient spontaneously went into labor and gave birth, by vaginal route, 12 hours later to a female stillborn infant weighing 620 g. The post-mortem examination had confirmed the diagnosis of Pentalogy of Cantrell revealing supra umbilical omphalocele surrounded by a transparent membrane through which one could see the liver, intestinal loops and the heart (Figure 4) associated with a labiopalatine cleft (Figure 5) and a right talipes equinovarus (Figure 6). Parents had agreed to see the newborn, but had refused the fetopathological examination because of their religious beliefs.
Figure 1: Omphalocele of 71 mm x 59.5 mm contening the heart, liver and small intestines.
Figure 2: Sagittal section of the fetus showing the base of the omphalocele through which one can see the heart and the thorax vessels (see).
Figure 3: Lower frontal section of the face showing a labiopalatine cleft.
Figure 4: Supra umbilical Omphalocele with transparent membrane through which one can see the liver, intestinal loops and the heart.
Figure 5: Post mortem image of the face showing labiopalatine cleft.
Figure 6: Post mortem aspect showing a female fetus with a supraumbilical omphalocele (1) associated with a labiopalatine cleft (2) and a right talipes equinovarus (3).

Discussion

The Pentalogy of Cantrell is an association of malformations that touch midline structures and in extreme cases the heart is externalized giving a picture known as cardiac ectopy. The main feature of this syndrome is a supra umbilical omphalocele associated with a cardiac ectopy. It is equivalent to a lack of closure of the umbilical ring with regard to the supra umbilical portion of the abdominal wall secondary to an abnormal development of the mesoderm during the first stage of embryonic development [2].
It’s a rare thoraco abdominal congenital abnormality, which prevalence is estimated at 1 case over 200 000 live births, with a male predominance of 2/1 [3,4]. In our case, it was a female newborn.
The pathogenesis of this disease is not fully known, and difference assumptions are made. Most of the cases described are sporadic, but a recessive inheritance related to the X chromosome has been proposed for some families and the genes located on a portion of the X chromosome (Xq22.5-q26.1). Sometimes the etiologic assumption that is made is that of a morphogenetic field, of which a single mutation on the X chromosome may disrupt development [5]. In our observation, as in most cases described in the literature [2-5], the malformation was sporadic since no family recurrence had been reported.
2D ultrasound is generally sufficient for diagnosis. In the complete forms (presence of five abnormalities) of PC, the diagnosis is often easy. Sometimes, diagnosis is difficult in minor forms of supra umbilical omphalocele. In these cases, the heart positional abnormality and/or the presence of a pericardial effusion can help with the diagnosis. Early antenatal diagnosis of this condition is possible with the obstetrical ultrasound from the 12th gestational week [6]. In our case, the diagnosis was made in the 2nd trimester of pregnancy in a context of premature rupture of membranes.
From a diagnostic point of view, the presence of an omphalocele, especially if it is supra umbilical, must make one look for other abnormalities of the diseases, in particular to check the integrity of the anterior diaphragm and the heart. Several types of associated malformations (encephalocele, hygroma colly, labial or labio palatine cleft, renal dysplasia, agenesia of the gall bladder, polysplenia….) to the PC have been descripted in the form of clinical cases [7-9]. The existence of multiple malformations can facilitate an early antenatal diagnosis from the 12th gestational week. In our case, the malformations associated with PC were labio palatine cleft and right talipes equinovarus. The latter had not been visualized on ultrasound probably due to the presence of the oligohydramnios.
Three-dimensional (3D) ultrasound can help with the diagnosis by providing more detailed information on the anatomy and the malformations. Similarly, magnetic resonance imaging (MRI) may also contribute to a better assessment of fetal abnormalities [10]. In our case, the contribution of these various examinations was required for diagnosis.
The prognosis of the disease is usually poor. It depends on the severity of cardiac abnormalities, hemodynamic instability due to the compression of large vessels and associated malformations. The majority of fetuses die in utero or within hours or days of life following their birth [5,11]
Once antenatal diagnosis is made, the prognosis must be clearly explained to the patient. A proposition of medical termination of pregnancy with fetopathological examination shall be made to the patient, especially in the complete forms. In our case, this attitude was adopted, but the patient gave birth spontaneously to a stillborn infant.
The couple was reassured in genetic counseling because of the sporadic nature of the malformation. They were however advised to do a 1st trimester screening obstetrical ultrasound during next pregnancy.

Conclusion

The Pentalogy of Cantrell is a multiple malformative syndrome with a very poor prognosis. Diagnosis is possible with an ultrasound of the first trimester and it allows early management. It is the severity of the heart disease which determines the prognosis, in terms of morbidity and mortality. In our countries, the diagnosis is prenatal or postnatal, prognosis of the PC in its complete form is often dark. It seems important to remind the benefit of the screening obstetrical ultrasound during the follow up process of pregnancies in maternal and perinatal morbidity and mortality control.

Conflict of Interest

The authors declare not having direct or indirect interests (financial or other kind) with any private or commercial organization in relation with the subject matter.

References

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  2. Van Hoorn JH, Moonen RM, Huysentruyt CJ, van Heurn LW, Offermans JP, et al. (2008) Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr 167: 29-33

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  6. Liang RI, Huang SE, Chang FM (1997)Prenatal Diagnosis of ectopiacordis at 10 weeks of gestation using two-dimensional and three-dimensional ultrasonography. Ultrasound ObstGyn10: 137-139.

  7. Hernandez Gonzales M, JimenezArteta S, Ortega F, Solorio S, Flores ME et al. (2006) Pentalogy of Cantrell. A case report. Arch Cardiol Mex 76: 202-7

  8. VulkovaA, Kovachera K, Rosmanova, Simeonova M (2007) Pentalogy of Cantrell. A case report. AkushGinekol (Sofia) 46: 41-3

  9. Polat I, Gul A, Aslan H, Cebeci A, Ozseker B, ET AL. (2005) Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. J Clin Ultrasound 33: 308 -311

  10. McMahon CJ, Taylor MD, Cassady CI, Olutoye OO, Bezold LI (2007) Diagnosis of pentalogy of Cantrell in the fetus using magnetic resonance imaging and ultrasound. PediatrCardiol 28: 172-175

  11. O’Gorman CS, Torteriello TA, McMahon CJ(2009) Outcome of children with Pentalogy of Cantrell following Cardiac Surgery. PediatrCardiol 30: 426-430.

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