1. If an infant, is there a family history of parathyroid disease or hypocalcemia? A birth history of trauma or asphyxia?
2. Are there renal symptoms (polyuria or polydipsia)? GI complaints (eg, loss of appetite, nausea, constipation, weight loss)? CNS symptoms (weakness, fatigue, depression)?
III. Differential Diagnosis. Infantile causes of hypercalcemia are often very different from causes in childhood. The two most common causes of hypercalcemia in adults, primary hyperparathyroidism and malignancy, are relatively rare in children. A. Neonatal Hypercalcemia
1. Williams syndrome. Supravalvular aortic stenosis, elfin-like facies, hypercalcemia in the first year of life.
2. Neonatal hyperparathyroidism. Several rare conditions, including a life-threatening condition associated with familial hypocalciuric hypercalcemia, a self-limited secondary hyperparathyroidism associated with maternal hypocalcemia, or, rarely, familial hyperparathyroidism syndromes.
3. Idiopathic infantile hypercalcemia. Related to increased sensitivity to vitamin D or elevated parathyroid hormone-related peptide.
4. Subcutaneous fat necrosis. Associated with birth asphyxia or trauma; violaceous, indurated areas on back or pressure points. Caused by increased vitamin D or prostaglandin E production.
5. Medications. Vitamins D and A, thiazides, prostaglandin E, calcium salts.
6. Hypophosphatemia. Major cause in premature infants.
7. Hypophosphatasia. Rare deficiency of alkaline phosphatase.
8. Malignancy. Rare cause in infants.
9. Blue diaper syndrome. Tryptophan malabsorption; nephro-calcinosis, constipation, fever, failure to thrive, absence of aminoaciduria.
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