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Copper deficiency and hypocalcemic rickets in a small-for-date infant
Insights
Copper deficiency in an infant caused hypocalcemia and rickets, mimicking vitamin D-resistant rickets. Supplementation with vitamin D normalized calcium and parathyroid hormone levels, suggesting copper
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.
Abstract:
A case of copper deficiency associated with hypocalcemia, radiological features of rickets and hyperparathyroidism is described in a small-for-date infant (gestational age 39 weeks, B.W 1 240 g). Neonatal serum copper (Cu) levels were found between 223 and 138 mumol/l. She was given daily 2 400 U of vitamin D2 and a load dose of 80 000 IU at the age of 55 days. At the age of 79 days, X-rays of the legs and wrist showed spread, cupped and frayed metaphyses. Serum Ca was 1.35 mmol/l, P = 0.99 mmol/l with high alkaline phosphatases (A.P.) 590 IU/ml. But plasma level of 25 hydroxycholecalciferol (25-OH-CC) was normal = 10.8 ng/ml. Serum Cu was low = 3.14 mumol/l and serum immunoreactive parathormone (iPTH) level was elevated: 520 mulEq/ml (N less than or equal to 100). Administration of vitamin D2 (15 mg) induced an immediate normalization of serum Ca, normal serum iPTH (68 mulEq/ml) in one month, normal X-rays in two months and normal A.P. in four months. Serum Cu and ceruloplasmin levels increased slowly without any supplementation to subnormal levels at the age of eight months (14.9 and 1.65 mumol/l. Serum Cu concentrations were found to be normal (16.0--33.7 mumol/l) in five children with hypocalcemic rickets. These results suggest a role of Cu deficiency in the occurrence of this transient vitamin D-resistant rickets.