Fathima Amani Mohammed Nowfal
Al Jalila Children’s Hospital, UAEPresentation Title:
Tiny cells, big clues: Unveiling infantile pyknocytosis through a case series
Abstract
Infantile pyknocytosis is a rare but clinically significant cause of neonatal hemolytic anemia, often overlooked due to its nonspecific presentation and diagnostic challenges. This case series presents four neonates with Coombs-negative anemia and jaundice, ultimately diagnosed with infantile pyknocytosis through peripheral blood smear analysis. The cases illustrate the spectrum of clinical manifestations and therapeutic responses, emphasizing the importance of early recognition and tailored management.
Notably, two cases revealed congenital heart defects and one developed pulmonary hypertension, prompting discussion on potential associations and systemic implications.
Participants will gain insights into:
• Recognizing pyknocytes and differentiating infantile pyknocytosis from other hemolytic conditions
• The role of infections and oxidative stress in exacerbating hemolysis
• Familial patterns and the importance of genetic considerations
• Supportive care approaches, including phototherapy, transfusions, and erythropoietin
This session aims to raise awareness of infantile pyknocytosis among pediatricians, neonatologists, and hematologists, emphasizing the importance of early recognition and multidisciplinary management. Attendees will leave with practical knowledge to enhance diagnostic accuracy and improve outcomes in 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.