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Fathima Amani Mohammed Nowfal

Al Jalila Children’s Hospital, UAE

Presentation Title:

Tiny cells, big clues: Unveiling infantile pyknocytosis through a case series

Abstract

Infantile pyknocytosis is an uncommon yet clinically important cause of neonatal hemolytic anemia that often remains underdiagnosed due to its nonspecific presentation and overlapping features with other hemolytic disorders. This case series describes four neonates presenting with Coombs-negative anemia and jaundice, in whom the diagnosis was confirmed through characteristic findings of pyknocytes on peripheral blood smears. The cases highlight the variable clinical spectrum, therapeutic responses, and possible associations with congenital heart defects and pulmonary hypertension, suggesting potential systemic implications. Understanding the role of infections, oxidative stress, and possible familial predisposition is crucial for timely diagnosis and effective management. Early recognition, supported by multidisciplinary care involving phototherapy, transfusions, and erythropoietin, can significantly improve outcomes. This session aims to enhance awareness and diagnostic precision among pediatricians, neonatologists, and hematologists, ultimately contributing to better prognosis and comprehensive care for affected neonates.

Biography

Fathima Amani Mohammed Nowfal is a pediatric resident at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), currently training at Al Jalila Children’s Specialty Hospital in Dubai. Her clinical and research focus is on rare pediatric hematologic disorders and neonatal care. She authored the case series “Tiny Cells, Big Clues”, published in Cureus, which has contributed to greater awareness of infantile pyknocytosis. Dr. Nowfal is dedicated to advancing pediatric care through evidence-based practice and collaborative research.