A 5-year-old boy has failure to thrive, bulky frothy stools, progressive gait ataxia and night blindness. Peripheral smear shows numerous spiky erythrocytes (acanthocytes). Duodenal biopsy reveals enterocytes stuffed with triglyceride droplets. What is the diagnosis?

• A Coeliac disease
• B Abetalipoproteinemia ✓
• C Cystic fibrosis with pancreatic insufficiency
• D Whipple disease

Explanation

Absence of apolipoprotein A prevents chylomicron formation, so absorbed triglyceride accumulates in enterocytes, causing fat malabsorption with fat-soluble vitamin deficiency. Vitamin E deficiency produces the spinocerebellar degeneration and retinal changes, and membrane lipid abnormalities produce acanthocytosis, the hallmark that separates it from coeliac disease, which shows villous atrophy without lipid-filled enterocytes or acanthocytes.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.