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Girish Arora

 

Girish Arora

Rainbow Hospital,
India

Abstract Title:Two Novel Mutations Associated with Familial Chylomicronemia in a Neonate

Biography: Girish Arora, DNB Pediatrics, is the Head of the Department of Pediatrics at Rainbow Hospital, specializing in neonatal care and complex genetic disorders. He completed his fellowship in Neonatology at AIMS and has published extensively, with a particular focus on novel mutations, including familial Chylomicronemia in neonates and the incidence of thrombocytopenia in newborns. Dr. Arora has presented his work at national conferences, contributing valuable insights to the field of neonatal genetics. Actively involved in research, he is committed to advancing diagnostic and therapeutic approaches in neonatology to improve patient outcomes with special focus on resource limited settings

Research Interest: We report a 12-day-old male infant who presented with respiratory distress, hepatosplenomegaly, and lipemia retinalis. Laboratory analysis showed extremely viscous, milky blood samples with marked hypertriglyceridemia (4425 mg/dL) and hypercholesterolemia (705 mg/dL), indicating familial chylomicronemia syndrome (FCS). Initial sepsis workup was negative. Genetic analysis revealed a novel homozygous missense mutation in the lipoprotein lipase (LPL) gene and a heterozygous missense variant in the sterol regulatory element-binding transcription factor 2 (SREBF2) gene. The infant's condition improved after switching to a medium-chain triglyceride-based formula, with normalization of lipid levels within two weeks. Familial testing showed the father had hypertriglyceridemia, suggesting a paternal origin for the lipid abnormalities. This case highlights the importance of considering non-infectious etiologies, such as metabolic and genetic disorders, in neonates presenting with respiratory distress and systemic inflammation without infectious evidence. Early identification and dietary management were crucial in reversing symptoms and preventing complications. This report also adds to the genetic landscape of FCS, describing a previously unreported LPL mutation with potential implications for lipid metabolism and genetic counseling.