[The diagnostic difficulties in a case of a hemorrhagic syndrome in an infant]

Area of Science:

• Pediatrics
• Gastroenterology
• Hematology

Background:

• Cystic fibrosis (CF) is a genetic disorder affecting multiple organs.
• Early diagnosis and management are crucial for patient outcomes.
• Gastrointestinal and hematological complications can manifest in infants with CF.

Observation:

• A 3-month-old infant diagnosed with cystic fibrosis exhibited severe anemia.
• The anemia was attributed to blood loss resulting from impaired thrombin formation.
• This coagulopathy stemmed from vitamin K malabsorption and hepatocellular insufficiency.

Findings:

• The case highlights an unusual initial presentation of cystic fibrosis.
• Vitamin K deficiency significantly impacted coagulation, leading to hemorrhage.
• Hepatocellular insufficiency contributed to the complex clinical picture.

Implications:

• This case underscores the diverse and potentially severe early manifestations of cystic fibrosis.
• It emphasizes the importance of considering CF in infants with unexplained bleeding and anemia.
• Early recognition of malabsorption and liver dysfunction is vital for managing CF-related complications.