, Volume 28, Issue 2, pp 247-249
Date: 19 Jun 2012

An infant with hypercalcemia and rachitic changes

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Hypercalcemia and rachitic changes due to vitamin A intoxication.

Case summary

The patient was a 10-month-old girl who presented with irritability, macrocephaly, loss in milestones, hepatomegaly, anemia, thrombocytopenia, coagulopathy, and severe hypercalcemia of uncertain etiology causing hypertension and renal insufficiency. She underwent an extensive workup to define the etiology of hypercalcemia. She had appropriately low parathyroid hormone (PTH) for the degree of hypercalcemia and normal serum phosphorus, which ruled out primary hyperparathyroidism. Her 25-hydroxyvitamin D level was normal, ruling out hypervitaminosis D. Her 1,25 dihydroxyvitamin D level was also normal, which was inconsistent with transient hypercalcemia. Transient hypercalcemia is a rare autosomal recessive trait with mutation in the CYP24A1 gene, the product of which is involved in breakdown of 1,25 dihydroxyvitamin D [1]. Chest X-ray showed no evidence of granulomatous disease (sarcoidosis or tuberculosis ...

The answer to the article can be found at http://dx.doi.org/10.1007/s00467-012-2196-7.
An erratum to this article can be found at http://dx.doi.org/10.1007/s00467-012-2290-x.