Invasive pneumonia and septic shock in infants as a presentation of cystic fibrosis with vitamin‐deficiency

Abstract

Herein we describe three infants with the rare presentation of pneumonia with septic shock as their initial medical encounter leading to the diagnosis of cystic fibrosis (CF). At the time of their presentation all three children had significant nutritional deficiency. We initiated an aggressive treatment regimen including nutritional supplementation which resulted in improvement in their pulmonary status and no further recurrences. This series highlights the possible presentation of CF in infancy as a life-threatening invasive infection of Staphylococcus aureus or Pseudomonas aeruginosa. It also supports neonatal screening and emphasizes the role of early attention to nutritional status and vitamin supplementation.

Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012

“…4 Prior to the implementation of NBS (and in countries where NBS is not performed), many children were diagnosed after presenting with failure to thrive, recurrent respiratory infections and chronic cough, rectal prolapse, and electrolyte abnormalities. [5][6][7][8][9][10] The earlier identification of children with CF by NBS makes it possible to initiate guideline based therapy in infancy, 11 allowing for early nutritional and pulmonary intervention and better long term outcomes.…”

“…There are significant regional variations in many CF related markers, and newborn screening (NBS) for CF became universal in the United States in 2010 when Texas became the final state to screen all newborns for this disease . Prior to the implementation of NBS (and in countries where NBS is not performed), many children were diagnosed after presenting with failure to thrive, recurrent respiratory infections and chronic cough, rectal prolapse, and electrolyte abnormalities . The earlier identification of children with CF by NBS makes it possible to initiate guideline based therapy in infancy, allowing for early nutritional and pulmonary intervention and better long term outcomes.…”