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 Table of Contents  
ORIGINAL ARTICLE
Year : 2013  |  Volume : 3  |  Issue : 3  |  Page : 222-225

Syndromic exomphalos in Ile-Ife Nigeria: Management challenges


Department of Surgery Paediatric Surgery Unit, Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria

Date of Web Publication28-Mar-2014

Correspondence Address:
Lofty-John C Anyanwu
P. O. Box 2536, Kano, Kano State
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-9596.129569

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  Abstract 

Background: Between 50% and 70% of children with exomphalos have other associated anomalies, which may involve the heart, abdominal viscera and urogenital organs resulting in high morbidity and mortality. The aim of this study is to review the management of patients with syndromic exomphalos in our center and to highlight the management challenges.
Materials and Methods: We retrospectively reviewed the records of patients with pentalogy of cantrell, cloacal exstrophy and Beckwith-Wiedemann syndrome who presented to our unit between January 1997 and December 2007.
Results: There were a total of 10 patients. Pentalogy of cantrell was the diagnosis in three patients while four of them had cloacal exstrophy and another three patients had Beckwith-Wiedemann syndrome. Their ages at presentation ranged between 2 h and 6 weeks, with a median of 27 h. Their birth weights ranged between 1.6 kg and 4.95 kg, median 2.45 kg. 5 patients (50%) had a low birth weight (<2.5 kg). Of the 10 patients, 4 (40%) were discharged against medical advice (1 was readmitted) and 2 (20%) were lost to follow-up. There were 5 (50%) mortalities during the course of treatment. None of them had karyotyping done.
Conclusion: The management of congenital ventral body wall defects is challenging in resource poor settings like ours, due to lack of appropriate facilities and relevant manpower.

Keywords: Challenges, neonatal surgical care, syndromic exomphalos


How to cite this article:
Sowande OA, Anyanwu LJC, Inyang AW, Ademuyiwa AO. Syndromic exomphalos in Ile-Ife Nigeria: Management challenges. Arch Int Surg 2013;3:222-5

How to cite this URL:
Sowande OA, Anyanwu LJC, Inyang AW, Ademuyiwa AO. Syndromic exomphalos in Ile-Ife Nigeria: Management challenges. Arch Int Surg [serial online] 2013 [cited 2019 Aug 24];3:222-5. Available from: http://www.archintsurg.org/text.asp?2013/3/3/222/129569


  Introduction Top


The embryologic etiology of congenital ventral body wall defects in the thorax or abdomen is not yet completely understood. They may be due to a failure of body folding, in which case one or more of the four folds (cephalic, caudal and two lateral) responsible for closing the ventral body wall at the umbilicus fail to progress to that region. [1] Often there are other associated anomalies which may involve the heart, abdominal viscera and urogenital organs. It is believed that about 50-70% of children with exomphalos have other associated anomalies, [2] which is responsible for the high mortality in this group of patients.

Exomphalos can be classified as syndromic and non-syndromic. Associated syndromes with exomphalos include: (i) Upper midline syndrome or cantrell's pentalogy, which consists of a supraumbilical body wall defect, deficiency of the anterior diaphragm, defect of the diaphragmatic pericardium and intracardiac anomalies. [3] (ii) Lower midline syndrome, which includes cloacal exstrophy, which classically consists of a central exstrophic ileocaecal plate located between two hemibladders, usually in association with an exomphalos, imperforate anus and ambiguous genitalia. [4] (iii) Central midline syndromes include Beckwith-Wiedemann syndrome, which consists commonly of exomphalos, macroglossia and gigantism-presenting as a prenatal or postnatal overgrowth of the body or viscera. [5] Other syndromes associated with exomphalos include trisomy 13, 14, 15, 18 and 21, which may be seen in about 30% of the cases. [2],[6]

There is a paucity of information on the prevalence and challenges in the management of such anomalies in our environment. The aim of this study is to highlight our challenges in the management of patients with syndromic exomphalos.


  Materials and Methods Top


We reviewed retrospectively the records of patients presenting with exomphalos in our hospital between January 1997 and December 2007. Patients with syndromic exomphalos were identified and demographic and clinical data were retrieved from their records for analysis. All the patients in the study were adequately resuscitated with intravenous fluids and commenced on parenteral antibiotics and IM vitamin K, before being evaluated for definitive treatment [Figure 1].
Figure 1: The Ile-Ife exomphalos algorithm

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  Results Top


There were 68 patients with exomphalos during the study period. Of these, there were 10 patients with syndromic exomphalos. There were three patients with pentalogy of cantrell, four with cloacal exstrophy and 3 who had Beckwith-Wiedemann syndrome. Eight of the patients were phenotypically females (80%) and two were phenotypically males (20%). The age at presentation ranged from 2 h to 6 weeks with a median of 27 h. Their birth weight ranged from 1.6 kg to 4.95 kg (median 2.45 kg). The lowest weights were found in infants with Cloacal exstrophy-range 1.6 kg to 2.4 kg (median 1.93 kg). The highest weights were found in the Beckwith-Wiedemann group-range 3.0 kg to 4.95 kg (median 4.5 kg). The average time from admission to surgery was 4 days (range 1-7 days).

A total of three patients with pentalogy of cantrell had their exomphalos managed non-operatively with daily dressings with 70% of alcohol soaked guaze. Sternal cleft closure could not be done in any of them as two were discharged against medical advice (DAMA) and one was lost to follow-up. The average duration of hospitalization in this group was 28 days (range 6-49 days).

In the cloacal exstrophy group, following an initial non-operative management of their exomphalos with 70% of alcohol dressings, three of them had bladder closure and an end colostomy in the theatre. The fourth patient opted for DAMA before surgery. The average duration of admission in them was 16 days (range 3-34 days).

For those with Beckwith-Wiedemann syndrome, two were managed non-operatively with 70% of alcohol soaked dressings of the exomphalos. The third patient who sustained a birth trauma; however had an operative closure of her ruptured sac. This group had average duration of admission of 8 days (range 4-11 days). Except for the patient who had operative closure of her ruptured exomphalos, the others were discharged early on financial grounds before complete skin cover of their exomphalos.

Out of the 10 patients, 4 (40%) were DAMA on financial grounds (1 was readmitted), 2 (20%) were lost to follow-up. There were 5 (50%) patients with low birth weight (<2.5 kg) and 5 (50%) died during the course of treatment. [Table 1] shows the clinical outcome of the patients while their maternal characteristics are shown in [Table 2]. None of the patients had ventilator support and none received total parenteral nutrition (TPN). Karyotyping was not done in any one of them and diagnosis of the various syndromes was based on the physical examination findings only. None of the conditions was diagnosed prenatally.
Table 1: Presentation and outcome of patients with ventral wall defects

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Table 2: Maternal characteristics of patients with ventral body wall defects

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  Discussion Top


The World Health Organization estimates that about 10% of all neonatal deaths in sub-Saharan Africa and South Asia are due to congenital anomalies. [7] Worldwide, the incidence of exomphalos varies, ranging between 1.5 and 3/10,000 births. [2] Many patients with exomphalos have associated recognizable syndromes. [2],[6] Many others have other life-threatening anomalies including cardiac defects, which are present in 30-50% of the cases. [2] These anomalies are responsible for the poor clinical outcome in this group of patients. Due to the non-availability of echocardiography facilities for children in our center, we were unable to rule out intrinsic cardiac anomalies in these children. Studies from outside our region estimate the incidence of cloacal exstrophy as 1 in 200,000-400,000 live births. [4],[8],[9] The incidence of pentalogy of cantrell is estimated to be 5.5 in 1 million live births, [10] while that of Beckwith-Wiedemann syndrome is estimated at 1 in 12,000-13,700 live births. [11] The true incidence of these anomalies in our region is largely unknown.

With improvements in anesthesia and the use of modern technology like cardiopulmonary monitors to monitor peri-operative vital signs, improved survival rates are seen following neonatal surgery in developed countries. The same cannot be said of neonatal surgery in our environment yet. This is because most of the required facilities are not available and parents have to bear the cost of treatment of the newborn, usually paying out of pocket. Plagued by a paucity of funds, most of the population in Africa cannot afford a long hospital stay or the multiple staged reconstructive surgeries needed in the treatment of some congenital anomalies. This is reflected in this study by the 40% (4 patients) rate of DAMA and 2 (20%) patients being lost to follow-up before completion of treatment.

The newborn, especially the preterm or low birth weight infant, has little tolerance to changes in normal physiologic milieu. Thus, the key to successfully managing any critically ill newborn is the ability to promptly detect and correct adverse changes in body physiology. This will necessitate higher levels of monitoring in the post-operative period. Major abdominal or thoracic surgery in the newborn frequently has an adverse effect on the mechanics of respiration, with the child being particularly vulnerable to developing respiratory failure, which is best prevented by ventilatory support. [12] None of our patients received ventilatory support as neonatal mechanical ventilators are not available in our center. We believe these problems contributed to our high (50%) mortality as we were unable to support their ventilation post-surgery.

Patients with cloacal exstrophy have been reported to have short bowel syndrome (SBS). [9],[13] Davidoff et al. reported a 32% incidence of SBS in their series. [9] All patients in their series were offered TPN. None of our patients received TPN as facilities for this form of nutrition is not available in our practice. This group of patients had colostomy and closure of the exstrophied hemibladders. Experience in the management of patients with severe congenital anomalies in our region is poor. [14] The shortage of other relevant staff trained in the care of the surgical neonate such as pediatric anesthetists, neonatal intensivists and pediatric radiologists is a confounding factor in our region. Therefore, the pediatric surgeon has to work alone with only general duty staff. Thus, the team approach is lacking. The outcome of our management of these patients is at the moment poor as we are unable to undertake appropriate peri-operative care of patients.

Owing to these limitations, we routinely undertake a non-operative management of very large (>5 cm) exomphalos, or exomphalos in premature neonates or those with a severe life-threatening congenital anomaly like cardiac anomalies [Figure 1]. This is to allow for a gradual epithelialization of the sac. Although this approach leads to a longer hospital stay, we recommend it for resource poor settings like ours. Alcohol is cheap and readily available, although its prolonged use may cause drowsiness in some of the patients.

Many communities in our region still stigmatize babies with congenital defects and some cultures attribute them to supernatural causes. Unfortunately, some still secretly eliminate such babies and many are reluctant to seek treatment, or are not aware of where to find help. These may account for the small number (10) of patients seen during the study period and also for the delay in presentation (median age at presentation was 27 h). None of these patients was delivered in our hospital.

Congenital ventral body wall defects are an important cause of morbidity and mortality in our environment. Lack of appropriate facilities and relevant manpower contribute greatly to the poor outcome of these patients.

 
  References Top

1.Sadler TW. Body cavities. In: Langman's Medical Embrology. 8 th ed. Philadelphia: Lippincott Williams and Wilkins; 2000. p. 197-207.  Back to cited text no. 1
    
2.Ledbetter DJ. Gastroschisis and omphalocele. Surg Clin North Am 2006;86:249-60, vii.  Back to cited text no. 2
[PUBMED]    
3.Kumar B, Sharma C, Sinha DD, Sumanlata. Ectopia cordis associated with Cantrell's pentalogy. Ann Thorac Med 2008;3:152-3.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.Apte AV, Sarkar D, Sarkar S. Cloacal exstrophy: A rare and complex anomaly. People's J Sci Res 2009;2:19-21.  Back to cited text no. 4
    
5.Narea Matamala G, Fernández Toro Mde L, Villalabeitía Ugarte E, Landaeta Mendoza M. Beckwith Wiedemann syndrome: Presentation of a case report. Med Oral Patol Oral Cir Bucal 2008;13:E640-3.  Back to cited text no. 5
    
6.Poddar R, Hartley L. Exomphalos and gastroschisis. Contin Educ Anaesth Crit Care Pain 2009;9:48-51.  Back to cited text no. 6
    
7.Paul VK, Singh M. Regionalized perinatal care in developing countries. Semin Neonatol 2004;9:117-24.  Back to cited text no. 7
    
8.Siebert JR, Rutledge JC, Kapur RP. Association of cloacal anomalies, caudal duplication, and twinning. Pediatr Dev Pathol 2005;8:339-54.  Back to cited text no. 8
    
9.Davidoff AM, Hebra A, Balmer D, Templeton JM Jr, Schnaufer L. Management of the gastrointestinal tract and nutrition in patients with cloacal exstrophy. J Pediatr Surg 1996;31:771-3.  Back to cited text no. 9
    
10.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.  Back to cited text no. 10
    
11.Cohen MM Jr. Beckwith-Wiedemann syndrome: Historical, clinicopathological, and etiopathogenetic perspectives. Pediatr Dev Pathol 2005;8:287-304.  Back to cited text no. 11
    
12.Bohn D. Postoperative management and intensive care. In: Puri P, editor. Newborn Surgery. 1 st ed. Oxford: Butterworth Heinemann; 1996. p. 62-71.  Back to cited text no. 12
    
13.McHoney M, Ransley PG, Duffy P, Wilcox DT, Spitz L. Cloacal exstrophy: Morbidity associated with abnormalities of the gastrointestinal tract and spine. J Pediatr Surg 2004;39:1209-13.  Back to cited text no. 13
    
14.Chirdan LB, Ngiloi PJ, Elhalaby EA. Neonatal surgery in Africa. Semin Pediatr Surg 2012;21:151-9.  Back to cited text no. 14
    


    Figures

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    Tables

  [Table 1], [Table 2]



 

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