Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate

A neonate presented with clinical, biochemical. endocrine and radiographic features consistent with vitamin D deficiency rickets of maternal origin. P ersistent hypocalcemia and subsequent development of pancytopenia, hemolysi s 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.