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.