Hypocalcemia due to tubular dysfunction in a patient with holoprosencephaly.

This is the first report of a case of hypocalcemia in a female infant with holoprosencephaly. Hypocalcemia developed 60 days after birth, secondary to decreased serum 1,25-dihydroxyvitamin D, as a result of renal tubular dysfunction which may have been induced by prerenal acute renal failure, the administration of anticonvulsants, and hypothyroidism. However, there was no evidence of rickets, and her serum 25-hydroxyvitamin D value was normal. She was treated with high-dose (0.5 microg/kg) 1alpha-hydroxyvitamin D3 and calcium lactate, and her calcium and 1,25-dihydroxyvitamin D values were consequently, normalized. However, she died at 268 days after birth.