Episode #6
Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings
In this episode of the Pediatric and Developmental Pathology Podcast, our hosts Dr. Mike Arnold ( @MArnold_PedPath ) and Dr. Jason Wang speak with Dr. Tetyana Nesterenko, Neonatologist in the Division of Neonatal-Perinatal Medicine at UT Southwestern Medical Center, affiliated with Dallas Children's Hospital; Dr. Evelyn Ilori, Hematopathology Fellow at UT Southwestern; Dr. Christine Kahlow, PGY-3 Resident at UT Southwestern; and Dr. Charles Timmons, Pediatric Pathologist and faculty at UT Southwestern, based at Children's Medical Center. Hear how a multidisciplinary team at UT Southwestern approached a full-term neonate's unexplained, rapidly fatal respiratory failure, from the resuscitation and family communication in the NICU to an autopsy that uncovered severe pulmonary hypoplasia and congenital alveolar dysplasia. A standard genetic sequencing panel came back normal, but chromosomal microarray analysis revealed the true cause: a deletion encompassing the TBX4 gene. We discuss the collaboration of their team to identify TBX4 haploinsufficiency at autopsy, and their article in Pediatric and Developmental Pathology : Primary Pulmonary Hypoplasia With Congenital Alveolar Dysplasia Associated With TBX4 Gene Deletion: A Case With Autopsy and Molecular Findings Featured public domain music: Summer Pride by Loyalty Freak
