[The importance of administering vitamin K intramuscularly in neonates]

Area of Science:

• Pediatrics
• Genetics
• Public Health

Background:

• The Netherlands uses oral vitamin K prophylaxis for infants to prevent vitamin K deficiency bleeding.
• Despite oral prophylaxis, bleeding incidence in Dutch infants is higher than in other European countries.
• The Dutch Health Council recommended transitioning to intramuscular vitamin K administration in 2017.

Observation:

• A 2-month-old infant experienced fatal intracranial hemorrhage and other hematomas.
• The infant had been receiving daily oral vitamin K but still presented with severe deficiency-related bleeding.
• Postmortem analysis revealed cholestasis, likely due to a transient ABCB11 gene variant, causing fat-soluble vitamin malabsorption.

Findings:

• A severe vitamin K deficiency-related bleeding occurred in an infant despite standard oral prophylaxis.
• Genetic analysis identified a heterozygous pathogenic variant in the ABCB11 gene as a potential cause of cholestasis and vitamin malabsorption.
• The case suggests that oral vitamin K may be insufficient in infants with underlying absorption issues.

Implications:

• This case highlights the critical need to implement the Dutch Health Council's recommendation for intramuscular vitamin K prophylaxis.
• Revising the national guideline to intramuscular administration is crucial for preventing severe bleeding events in infants.
• Ensuring adequate vitamin K levels in all infants, especially those with potential malabsorption, is paramount for public health.