A former very low birth weight preterm infant now 3 months old, receiving long-term parenteral nutrition for cholestatic liver disease, develops pallor, peripheral edema, and a hemolytic anemia with marked reticulocytosis. Direct antiglobulin test is negative and the red cell morphology shows acanthocytes.

• A Vitamin E deficiency ✓
• B Hereditary spherocytosis
• C Glucose-6-phosphate dehydrogenase deficiency
• D Autoimmune hemolytic anemia

Explanation

Vitamin E is the principal lipid-soluble antioxidant protecting red cell membranes from peroxidation. Premature infants have low tissue stores, and cholestasis plus prolonged parenteral nutrition without supplementation worsens deficiency, causing a hemolytic anemia with reticulocytosis, edema, and thrombocytosis. The negative Coombs test excludes autoimmune hemolysis, spherocytes are absent ruling out hereditary spherocytosis, and G6PD deficiency episodes are triggered by oxidant drugs rather than cholestasis. Plasma alpha-tocopherol level confirms the diagnosis.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.