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Cystic fibrosis presenting as kwashiorkor with florid skin rash
R J Phillips1, C M Crock, M J Dillon
1Hospitals for Sick Children, London.
Insights
Cystic fibrosis can present rarely as kwashiorkor in infants, leading to delayed diagnosis and high mortality. Recognizing this connection aids in understanding and managing the illness.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Nutritional Science
Background:
- Cystic fibrosis (CF) is a genetic disorder typically diagnosed through newborn screening or sweat tests.
- Classic CF symptoms include respiratory and digestive issues, but rare presentations exist.
Observation:
- Two infants presented with severe edema, rash, hypoalbuminemia, and anemia.
- These infants were later diagnosed with cystic fibrosis.
Findings:
- This rare CF presentation mimics kwashiorkor, a form of malnutrition.
- It is associated with false-negative sweat tests, leading to diagnostic delays.
- The condition carries a significant mortality rate.
Implications:
- Recognizing kwashiorkor as a CF manifestation aids in earlier diagnosis.
- Understanding this link improves insights into CF pathogenesis and nutritional management.
- This highlights the importance of considering CF in infants with severe unexplained malnutrition symptoms.
Abstract:
Two infants with a florid erythematous rash and generalised oedema, hypoalbuminaemia, and anaemia were found to have cystic fibrosis. This rare presentation is associated with false negative sweat tests, delays in diagnosis, and a considerable mortality. It is proposed that this presentation represents a manifestation of kwashiorkor secondary to malabsorption. The recognition that these infants have kwashiorkor provides some insight into the pathogenesis and management of their illness.