Copper deficiency and hypocalcemic rickets in a small-for-date infant

Area of Science:

• Pediatric Endocrinology
• Nutritional Biochemistry
• Mineral Metabolism

Background:

• Copper deficiency is a rare condition with diverse clinical manifestations.
• Rickets, characterized by bone mineralization defects, is typically associated with vitamin D deficiency.
• Infantile hypocalcemia can arise from various causes, including nutritional deficiencies.

Observation:

• A small-for-date infant presented with hypocalcemia, radiological signs of rickets, and hyperparathyroidism.
• Serum copper levels were significantly low, while vitamin D metabolites were within the normal range.
• Elevated serum parathyroid hormone (iPTH) levels were noted, despite normal vitamin D status.

Findings:

• Vitamin D therapy rapidly corrected hypocalcemia and normalized iPTH levels.
• Radiological evidence of rickets resolved within two months of vitamin D treatment.
• Serum copper and ceruloplasmin levels showed a slow increase without direct copper supplementation.

Implications:

• This case suggests that copper deficiency can manifest as transient, vitamin D-resistant rickets in infants.
• Copper's role in calcium and bone metabolism warrants further investigation.
• Early diagnosis and management of copper deficiency are crucial in infants with unexplained rickets and hypocalcemia.