Vitamin E deficiency and platelet functional defect in a jaundiced infant

Area of Science:

• Pediatric Hepatology
• Hematology
• Nutritional Science

Background:

• Infantile cholestatic liver disease can present with complex metabolic derangements.
• Vitamin E deficiency is a known complication of certain pediatric liver conditions.
• Platelet dysfunction can occur secondary to various systemic illnesses.

Observation:

• A 16-month-old infant presented with hepatic fibrosis, cholestasis, and chronic jaundice.
• Clinical signs included mild acanthocytosis, thrombocytosis, increased peroxide hemolysis, and undetectable serum vitamin E levels.
• Abnormal prothrombin consumption and platelet aggregation indicated defective platelet function, attributed to a plasma defect.

Findings:

• The infant's platelet function abnormality was corrected upon administration of vitamin E.
• Serum vitamin E levels were absent, confirming vitamin E deficiency.
• Correction studies demonstrated that the plasma defect was responsive to vitamin E treatment.

Implications:

• This case highlights the critical role of vitamin E in maintaining normal platelet function.
• Vitamin E supplementation may be a crucial therapeutic intervention for platelet dysfunction in pediatric liver disease.
• Further research is warranted to elucidate the precise mechanisms of vitamin E's influence on platelet physiology.