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21 December 2019 : Case report  USA

Isolated Thoracoschisis with Rib Agenesis and Liver Herniation: A Case Report

Challenging differential diagnosis, Unusual setting of medical care, Congenital defects / diseases

Tyler B. Masden1EF, Atenasio Taela2AF, Massada da Rocha2AF, Donald C. Moores3AE, Andrei Radulescu3AEG*

DOI: 10.12659/AJCR.919125

Am J Case Rep 2019; 20:1915-1919


BACKGROUND: Thoracoschisis is a very rare congenital birth defect defined by the herniation of intra-abdominal organs through a defect in the thoracic wall. Though often associated with other birth defects as a part of the “limb-body wall complex” deformities, thoracoschisis has very rarely been reported as an isolated finding.

CASE REPORT: Here we present the case of a 30-day-old term male infant with an isolated left thoracoschisis managed successfully by primary closure. The patient was monitored postnatally in the Neonatal Intensive Care Unit (NICU) of Maputo Central Hospital because of the presence of a herniated mass through a left chest wall defect below the left nipple. Computed tomography (CT) scans suggested the presence of a left diaphragmatic hernia, left rib agenesis, and herniation of an unidentifiable intra-abdominal organ through the anterior left chest wall. On day of life (DOL) 30, when global health outreach pediatric surgeons arrived at the hospital, the decision was made to operate on the child. The mass was found to be of liver origin, the exposed tissue was excised, and primary closure of the chest wall was accomplished. The patient’s postoperative course involved a wound infection that resolved favorably with treatment, allowing for discharged home on postoperative day (POD) 17 in stable condition.

CONCLUSIONS: Our case report highlights the importance of recognizing this rare condition and directing appropriate surgical care.

Keywords: Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hernia, Mass Chest X-Ray, Pediatrics, Hernias, Diaphragmatic, Congenital, Infant, Newborn, Liver Diseases, Rare Diseases, Ribs, Thoracic Wall, Tomography, X-Ray Computed

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923