3-Discussion
The discussion of this case emphasizes several crucial aspects:
Cultural Considerations: The case brings attention to the cultural perceptions in the local community, where such a deformity might be misunderstood and considered a curse. This cultural context may lead to harmful actions against the newborn, highlighting the importance of cultural sensitivity in healthcare.
Sporadic Nature: The absence of suspected chromosomal aberrations and the lack of genetic studies suggest that this case may be sporadic. The involvement of certain genes, including those on the X chromosome and genes like BMP2 and ALDH1A2, has been suggested in other cases, emphasizing the need for further genetic investigations [4, 5].
Embryological Mechanisms: The origin of Cantrell pentalogy remains unknown, but there is a proposed embryological mechanism involving a failure of mesodermal fold migration to the midline during embryonic development [6, 7]. This can lead to various anomalies, including sternal agenesis and diaphragmatic hernia.
Sternal Anomalies: While sternal anomalies have been reported in 60% of cases [8], specific details about sternal agenesis in this case remain speculative due to the absence of radiographic confirmation. However, the significant depression observed on video 2 and figure 1 (a) suggests the possibility of sternal agenesis.
Abdominal Wall Anomaly: The abdominal wall anomaly observed in this case aligns with findings in previously reported in 3 out of 4 cases [8]. The attachment of organs to the heart is explained by the absence of the diaphragm, either in part or entirely. This could manifest as a diaphragmatic hernia or hypoplastic or an absence of diaphragm due to the failure of the mesoderm to differentiate into septum transversum. Cardiac anomalies reported in the literature include a segmentation defect of the heart.However, the lack of specific details in this case, due to the unavailability of cardiac ultrasound, highlights a limitation in fully characterizing the cardiac component of Cantrell pentalogy.Furthermore, there is a high mortality associated with complete forms of Cantrell pentalogy, such as the one presented in this case as well as the forms associated with cardiac ectopy.
An overview of the literature found that in sub-Saharan Africa there have been about fifteen cases documented in PubMed journals (table1), with an additional two studies involving three fetuses [9,10]. Of these cases, six were reported as complete forms, and interestingly, two of those cases survived without externalization of the heart (ectopia cordis). The data suggests a high mortality rate associated especially when ectopia cordis is present. Among the reported cases, five children died within the first 24 hours, and two others died during the follow-up period. Two reported cases undergone surgery. One of these cases involved an incomplete form of Cantrell pentalogy, while the other had a complete form without externalization of the heart.
In our case, the mother had a fever at 12 weeks’ gestation, which was later identified at 8 weeks’ gestation and treated similarly to a case reported by Okafor et al [11]. Additionally, anti-malarial treatment was administered in Cameroon in a similar context [16]
However, the discussion notes the challenge in confirming the role of the malaria or its treatment in the onset of Cantrell pentalogy cannot be established. Furthermore, the facial dysmorphia observed in this case was not reported by other African authors. Prenatal ultrasound was used to diagnose three cases. However, in our case, the ultrasound done prior to birth missed the diagnosis. This raises concerns about the skill of radiologists performing prenatal ultrasounds in Togo. It also underscores the importance of having well-trained and qualified healthcare professionals conducting prenatal screenings to ensure accurate in diagnoses. Three newborns were delivered at home. The scarcity of postnatal cardiac ultrasound equipment in referral centers is highlighted as a significant obstacle. The financial constraints of parents further compound the issue, preventing some cases from receiving necessary diagnostic procedures in a private hospital. The lack of access to essential medical equipment contributes to delayed or absent postnatal evaluation. Respiratory distress at birth with a high risk of mortality and cases associated with respiratory distress died. The hypothesis of cyanogenic cardiopathy could not be eliminated. This suggests the difficulty in definitively identifying the underlying cardiac issues due to limitations in diagnostic capabilities The short lifespan of the newborn (16 hours) did not allow for the organization of a comprehensive management plan, emphasizing the urgency in addressing such case. The treatment administered is described as very close to palliative care.