Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia

Objective: Description of rickets as an unexpected initial manifestation in two children with abetalipoproteinemia and hypobetalipo-proteinemia, and elucidation of its pathophysiology in these conditions. Methodology: Two infants aged two and six months with abetalipoproteinemia and hypo-betalipoproteinemia respectively had clinical rickets at presentation, confirmed radiologically and biochemically. Vitamin D intake and serum levels were measured and other causes of rickets were looked for. Results: Vitamin D intake and laboratory studies levels were suggestive of rickets due to calcium deficiency instead of vitamin D deficiency. Healing of rickets occurred with dietary treatment of the malabsorption, without any dietary calcium or significant vitamin D supplementation. Conclusion: Steatorrhea-induced calcium mal-absorption seems to be the most likely cause of rickets in this entity.