Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate

Abstract

A neonate presented with clinical, biochemical, endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. Persistent hypocalcemia and subsequent development of pancytopenia, hemolysis and hepatosplenomegaly prompted further studies that led to the diagnosis of infantile osteopetrosis.

Conclusion Osteopetrosis is an important differential diagnosis of neonatal rickets and is not excluded by low vitamin D levels.