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Background <p>Cystic fibrosis (CF) may present in early infancy with predominantly gastrointestinal manifestations, potentially delaying recognition when respiratory symptoms are absent or subtle.</p> Case presentation <p>We report a 4.5-month-old female infant, full-term, born via normal vaginal delivery and weighing 2.3&#xa0;kg at birth, fourth sibling of a consanguineous marriage, who presented with chronic greasy diarrhea since birth (~ 8 episodes/day), severe failure to thrive (weight &lt; 3&#xa0;kg), generalized edema, and periorbital puffiness. Meconium passage was normal. She had a prior NICU admission at 17 days of age for neonatal sepsis. Investigations showed stool reducing substances positive, marked fecal fat, fecal elastase 10&#xa0;µg/g (severe exocrine pancreatic insufficiency), positive immunoreactive trypsinogen, sweat chloride 68 mmol/L, severe hypoalbuminemia (1.1&#xa0;g/dL), hyponatremia (128 mEq/L), CT chest hyperinflation with small airway disease, and fatty liver. Respiratory symptoms were not clinically prominent. Despite supportive management including albumin and packed red blood cell transfusion, the patient died during hospitalization.</p> Conclusion <p>This case highlights an atypical and fulminant gastrointestinal-predominant presentation of cystic fibrosis in early infancy with severe malnutrition, edema, and pancreatic insufficiency, emphasizing the importance of early recognition and aggressive nutritional intervention.</p>

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Fatal early infantile cystic fibrosis presenting predominantly with severe steatorrhea, hypoalbuminemia, edema, and pancreatic insufficiency: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月2日

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  • Aya Samir Mohamed Saleh,
  • Merna Adel Aziz

摘要

Background

Cystic fibrosis (CF) may present in early infancy with predominantly gastrointestinal manifestations, potentially delaying recognition when respiratory symptoms are absent or subtle.

Case presentation

We report a 4.5-month-old female infant, full-term, born via normal vaginal delivery and weighing 2.3 kg at birth, fourth sibling of a consanguineous marriage, who presented with chronic greasy diarrhea since birth (~ 8 episodes/day), severe failure to thrive (weight < 3 kg), generalized edema, and periorbital puffiness. Meconium passage was normal. She had a prior NICU admission at 17 days of age for neonatal sepsis. Investigations showed stool reducing substances positive, marked fecal fat, fecal elastase 10 µg/g (severe exocrine pancreatic insufficiency), positive immunoreactive trypsinogen, sweat chloride 68 mmol/L, severe hypoalbuminemia (1.1 g/dL), hyponatremia (128 mEq/L), CT chest hyperinflation with small airway disease, and fatty liver. Respiratory symptoms were not clinically prominent. Despite supportive management including albumin and packed red blood cell transfusion, the patient died during hospitalization.

Conclusion

This case highlights an atypical and fulminant gastrointestinal-predominant presentation of cystic fibrosis in early infancy with severe malnutrition, edema, and pancreatic insufficiency, emphasizing the importance of early recognition and aggressive nutritional intervention.