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Case Reports
. 2022 Jun 28;17(9):3172-3178.
doi: 10.1016/j.radcr.2022.05.083. eCollection 2022 Sep.

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report

Ratih Sulistyowati  1 , Anggraini Dwi Sensusiati  2
Affiliations
Case Reports

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report

Ratih Sulistyowati et al. Radiol Case Rep. .

Abstract

Pentalogy of Cantrell is a rare syndrome of anomalous malformation. In the present case, the syndrome was initially diagnosed as a complete pentad, including a supra-umbilical abdominal wall defect, a sternal defect, pericardial defects, an anterior diaphragmatic defect, and heart malformation. Diagnosis required several imaging modalities, including computed tomography (CT) and magnetic resonance imaging (MRI). In this case report, we present an 8-month-old female patient with a thoracic wall defect with ectopia cordis and a bilateral cleft lip and palate. In addition, a head CT scan showed craniosynostosis, hypogenesis of the corpus callosum, and tonsillar cerebellar herniation. Thoracoabdominal CT revealed herniation of the transverse colon up to the subcutaneous layer, diaphragmatic hernia, atrial septal defects (ASD), ventral septal defects (VSD), and a persistent left superior vena cava (PLSVC). A multidisciplinary approach is required for the optimal management of this syndrome. We describe a female infant who presented with pentalogy of Cantrell syndrome and include the findings from postnatal CT imaging.

Keywords: Computed tomography scans; Congenital anomaly malformation; Ectopia cordis; Pediatric; Pentalogy of Cantrell.

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Figures

Fig 1
Fig. 1
Three-dimensional (3D) volume rendering showing a defect in the thoracic wall, with ectopia cordis, and a bilateral cleft lip and palate.
Fig 2
Fig. 2
Head three-dimensional (3D) volume rendering (A) and head bone 3D reconstruction (B) showed defects in the nasal bone, right and left medial orbital wall, and cleft lip and palate. The 3D reconstruction of the left side (C) showed a craniosynostosis at the left lambdoid suture, left coronaria suture, and frontalis suture. Sagittal head computed tomography (CT) scan of the cranial window (D) revealed hypogenesis of the corpus callosum and tonsillar cerebellar herniation.
Fig 3
Fig. 3
Axial (A) and sagittal (B) chest computed tomography (CT) scans showed a defect of the sternum (red arrow) and a herniated left ventricle of the heart. Bone 3-dimensional (3D) reconstruction (C) showed a defect in the sternum. Axial (D) and sagittal (E) upper abdominal CT scans revealed a defect of the anterior diaphragm, with a hernia in the transverse colon through the defect and up to the subcutaneous layer.
Fig 4
Fig. 4
Axial (A) and coronal (B) chest computed tomography (CT) scans of the mediastinal window showed an atrial septal defect. Axial (C) and coronal (D) chest CT scans also revealed a ventricle septal defect. Coronal (E), axial (F), and 3D reconstruction (G) showed a persistent left superior vena cava (PLSVC).
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