B El-Nabulsi, G Brannan,R Carachi
Department
of Surgical Paediatrics,Royal Hospital for Sick Children, Yorkhill, Glasgow G3
8SJ
Corresponding email address: basemranda@yahoo.com
Introduction:
The Pentalogy of Cantrell was first described by Cantrell, Haller, and
Ravitch in 1958. It consists of a defect of the lower sternum, midline
supraumbilical abdominal wall defect, deficiency of the anterior diaphragm,
defect in the diaphragmatic pericardium and congenital intracardiac defect. 1,2
Although the full spectrum of Pentalogy of Cantrell is rarely described in
the literature, incomplete Pentalogy of Cantrell are frequently documented and
are considered to be a variety of the original Pentalogy of Cantrell.
We document an unusual case of a term baby who had incomplete Pentalogy
of Cantrell characterized by three diaphragmatic defects with herniation of the
liver into thoracic cavity, omphalocele, sternal cleft, and epigastric hernia.
Case Report:
A male Asian infant was born to a 22 year old primigravida mother by vaginal delivery at 40 weeks of gestation. The antenatal history was unremarkable and the antenatal ultrasound scans were reported as normal. Immediately after birth no resuscitation was needed and the following deformities were noted; A 11X13 cm non-pulsating sternal mass covered by thickened and cracked skin, a palpable mass in the right upper quadrant, a bilateral large hydroceles with scrotal skin pigmentation and ulceration, a tuft of hair over his lower sacrum with blind ended sacral dimple, a single palmer crease and large toes with convex nails.
A chest radiograph after delivery showed a distal sternal cleft with high right hemi diaphragm. US examination revealed the presence of subcutaneous bowel and omentum in the right side of the chest. The patient was admitted to special care baby unit. His cardiovascular and respiratory status remained stable. Echocardiogram and MRI confirmed that, the heart is structurally normal (Figure 1).
Figure 1 - MRI scan confirms the herniation of the liver to the right side of the chest
Primary surgical repair was carried out on the 5th day, of which three right sided diaphragmatic defects corrected by primary closure (Figure 2), repair of epigastric hernia and prophylactic appendectomy. The post operative course was uneventful and he was discharged home at 36 days of age.
Figure 2 - Three right sided diaphragmatic defects corrected by primary closure
Now aged 18 months has made an excellent recovery and well developed.
Discussion:
The Pentalogy of Cantrell is a rare syndrome with an estimated incidence
of 1 per 100,000 live birth, and male predominance (M: F ratio, 2:1,2). 1,2,3,4
The pathogenesis of this syndrome is uncertain. Cantrell et al proposed that it results from developmental failure of the mesoderm in early embryonic life between 14 and 18 day of gestation. Normally the mesoderm differentiates into somatic mesoderm which gives rise to the sternum, abdominal wall, pericardium, and part of the diaphragm, and splanchic mesoderm which give rise to myocardium. Failure of the lateral mesodermal folds to migrate to the midline causing the sternal and abdominal defects and failure of the septum transversum to develop, causing defect in the anterior diaphragm and pericardium. 1,2,5,6
There is no certain theory could explain this failure, but it is believed to occur because of vascular dysplasia resulting in vascular steal phenomena, or mechanical teratogenesis such as amniotic band causing pressure necrosis and incomplete morphogenesis or mechanical compression secondary to rupture of the chorion or the yolk sac and finally genetic mutation either idiopathic or due to viral infection in the very first trimester or drug given to the mother.5
Often the spectrum of the original Pentalogy of Cantrell is not
complete. Toyama suggested the following classification of Pentalogy of Cantrell
or it is variants as:
Class A: Exact diagnosis if all defects are present.
Class B: Probable diagnosis if 4 defects (including intracardiac and
abdominal wall) are Present.
Class C: Incomplete diagnosis with combination of defect (always accompanied by sternal defect) 1,3,6
Many other associated anomalies have been reported with Pentalogy of
Cantrell and include craniofacial and central nervous system anomalies such as
cleft lip and /or cleft palate, encephalocele, hydrocephalus and
craniorachischisis. Thoracoabdominal organ abnormalities such as lung hypoplasia,
adrenal hypoplasia, gallbladder agenesis, single kidney agenesis, polysplenia,
malrotation of the colon, herniation of bowel into pericardium, bladder extrophy,
undescended testes and bilateral inguinal hernia. Limb defects such as club
foot, absence of tibia and radius and hypoductyly.1,6,7,8
The management of Pentalogy of Cantrell starts during the antenatal period. With the prenatal ultrasonography it is usually can be diagnosed as early as 15 weeks of gestation.1,2,5 In a fetus with an omphalocele persisting beyond 14 weeks of gestation, or have a maximum diameter exceeding 1 cm, several malformations should be suspected including Pentalogy of Cantrell. Detailed search for Pentalogy of Cantrell should be done including the utilization of prenatal magnetic resonance and invasive tests.1,6 If diagnosis of Pentalogy of Cantrell confirmed, antenatal counseling is promoted and termination of pregnancy can be considered unless the patients choosing to continue the pregnancy.5
There is a controversy as to the treatment of Pentalogy of Cantrell. The
best treatment strategy depends on the size, the content and the state of the
sac of the omphaltic defect, the associated heart anomalies and the type of
Pentalogy of Cantrell.1,4,5 In patients with cardiac defect
manifesting early with low or limited cardiac output do not tolerate
reconstruction of the abdominal wall unless cardiac defect is repaired
initially. However, if there are no signs of cardiac insufficiency, the
pericardial defect, diaphragmatic defect and abdominal wall defect can be
repaired by either direct suturing or the use of prosthetic material. The
anterior chest wall defect can be covered by skin flaps or prosthesis as well.
This will be followed by corrective cardiac surgery with concomitant chest wall
reconstruction.2,4,8
In the severe form of Pentalogy of Cantrell with ectopia cordis, the
surgical correction is often difficult secondary to hypoplasia of the thoracic
cage and inability to enclose the ectopic heart.5
Regarding prognosis, three of the five patients Cantrell reported in 1958 survived but none of them had true ectopia cordis.3 In 1972 Toyama found a survival rate of 20%, he also included the mildest variant of Pentalogy of Cantrell. The complete variant has the poorest outcome and survival was only 8.5% in the report by Fernandez.2,8
Ghidini’s 1988 reported 17 prenatally diagnosed cases, gave a survival rate of 0%. These cases were prenatally diagnosed, so the extent of anomalies could have been more severe than those cases detected at birth.2,5
Overall the prognosis appears dismal in patient with complete form of
Pentalogy of Cantrell, patient with associated anomalies and antenatal
diagnosis.
References:
1-
Hoorn J, Moonen R, Huysentruyt C, Heurn E, Offermans J,Mulder A.
Pentalogy of Cantrell: two patients and review to determine prognostic factors
for optimal approach. Eur J Pediatr 2008;167:29-35.
2-
Fernandez MS, Lopez A, Vila J,Lluna J. Cantrell’s pentalogy. Report of
four cases and their management.Pediatr Surg Int 1997;12:428-431.
3-
Kumar B, Sharma SB, Kandpal DK, Agrawal LD. Unusual variant of
Cantrell’s pentalogy?. Ann Thorac Med 2008;3:106-107.
4-
Alper B, Kologlu MB, Ulu HO, Yagmurlu
A, Gokcora IH. A severe form of Cantrell’s pentalogy with complete
ectopia cordis. Journal of Ankara Uniersity Faculty of Medicine
2007;6(3):139-142.
5-
Craigo SD, Gillieson MS, Cetrulo CJ. Pentalogy of Cantrell.
www.thefetus.net
6-
Khanna PC, Bharati DA, Merchant SA. Pentaogy of Cantrell or one of its
variant. Appol Radiol 2005;34(10):40-43.
7-
Dinice Jimenza PA, Mainwaring RD. Pentalogy of Cantrell: A rare
congenital abnormality.JAAPA November 2007;20(11):26-27.
8-
Yuan SM,
Shinfeld A, Mishaly D. An incomplete pentalogy of Cantrell. Chang Gung Med J
May-June 2008;31(3):309-313.