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Rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia

H Narchi1, S S Amr, P M Mathew

  • 1Pediatric Unit, Saudi Aramco Al-Hasa Health Center, Saudi Arabia. hassibnarchi@hotmail.com

Journal of Pediatric Endocrinology & Metabolism : JPEM
|April 20, 2001
PubMed

Insights

Rickets can unexpectedly appear in infants with abetalipoproteinemia and hypobetalipoproteinemia. This study suggests calcium malabsorption due to steatorrhea, not vitamin D deficiency, is the likely cause.

Area of Science:

  • Pediatrics
  • Nutritional Science
  • Endocrinology

Background:

  • Abetalipoproteinemia and hypobetalipoproteinemia are rare genetic disorders affecting lipid absorption.
  • Rickets, a condition of soft and weak bones, is typically associated with vitamin D deficiency.

Observation:

  • Two infants presented with clinical and biochemical evidence of rickets.
  • These infants had abetalipoproteinemia and hypobetalipoproteinemia, respectively.

Findings:

  • Laboratory results indicated calcium deficiency rickets rather than vitamin D deficiency.
  • Rickets resolved with dietary management of malabsorption, without significant calcium or vitamin D supplementation.

Implications:

  • Steatorrhea-induced calcium malabsorption is a probable cause of rickets in these lipid metabolism disorders.
  • Highlights the importance of considering calcium malabsorption in the differential diagnosis of rickets in infants with these conditions.
Abstract

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