Cystic fibrosis presenting as kwashiorkor in a Sri Lankan infant

Area of Science:

• Pediatrics
• Genetics
• Gastroenterology

Background:

• Cystic fibrosis (CF) often presents with growth failure due to pancreatic insufficiency.
• Kwashiorkor, a severe form of malnutrition, is an exceptionally rare manifestation of CF.
• CF is considered a rare genetic disorder within South Asian populations.

Observation:

• This report details a case of a Sri Lankan infant diagnosed with cystic fibrosis.
• The infant presented with pronounced clinical manifestations consistent with severe kwashiorkor.
• This presentation is highly unusual given the typical CF phenotype and population prevalence.

Findings:

• The study documents a rare instance of cystic fibrosis presenting as severe kwashiorkor.
• It underscores the diagnostic challenge of CF in regions where it is considered uncommon.
• Highlights the diverse clinical spectrum of cystic fibrosis, even in atypical populations.

Implications:

• This case expands the understanding of cystic fibrosis presentations, particularly in South Asian infants.
• It emphasizes the importance of considering CF in the differential diagnosis of severe malnutrition, irrespective of geographic rarity.
• Suggests the need for increased awareness and potentially earlier screening protocols for CF in diverse ethnic groups presenting with severe growth failure.