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

Abstract

Patient: Male, 30-day-oldFinal Diagnosis: ThoracoschisisSymptoms: Respiratory distressMedication: —Clinical Procedure: —Specialty: SurgeryObjective:Congenital defects/diseasesBackground: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.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

“…The Hoxb6Cre ; Isl1 cKO hindlimb skeletons exhibited proximal defects in particular the os pubis and ischium, two posterior segments of the pelvic girdle, were missing, resembling pubic diastasis, a human BEEC-specific feature 1 , 8 . Transgenic Syt1 tm1a(EUCOMM)Wtsi /Syt1 tm1a(EUCOMM)Wtsi mice among other features develop thoracoschisis 9 , a rare congenital anomaly characterized by the evisceration of intra-abdominal organs through a thoracic wall defect 10 mirroring the BEEC associated infraumbilical abdominal wall defect 1 .…”

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