Recurrent anemia in an infant with pneumonia: be vigilant for uncommon presentation of cystic fibrosis

Abstract

Cystic fibrosis (CF) is an autosomal recessive multisystem disorder characterized by the formation of thick, sticky mucus that can hamper our various organs.1 CF is caused by the alteration of a gene located on the long arm of chromosome7 that encodes a protein, the cystic fibrosis trans membrane conductance regulator (CFTR), which functions as a chloride channel on the apical membrane of epithelial cells.2 The disorder’s common symptomatology is due to progressive damage to the respiratory system, digestive system, exocrine pancreatic insufficiency (diarrhea and failure to thrive), though their severity varies among affected individual.3 Those infant who are not having classical clinical manifestations suggestive of CF or uncommon presentation, neonatal screening or early suspicion is helpful in detection of disease which allows prompt treatment of CF related complications, improving survival and conceptualizing the treatment strategies.4 Meconium ileus may be the first manifestation of CF in the neonatal period, occurring in approximately 20% of patients with pancreatic insufficiency.5 Though iron deficiency anemia may be present due to malabsorption in children,6 transfusion dependent severe anemia in early infancy associated with CF is not mentioned in literature. Our objective of the present publication is to report the case of an infant who had uncommon presentation of CF with recurrent anemia and pneumonia without full blown evolution of the disease despite the clinical suspicion of CF.