A Case Report on Vitamin D-dependent Rickets Type 1 with Failure to Thrive and Regression of Motor Development

Abstract

Vitamin D-dependent rickets type1 is a rare autosomal recessive disorder caused by renal deficiency of 25-hydroxyvitamin D₃ 1α-hydroxylase. We had a 20-month old male patient with failure to thrive and regression of motor development. His clinical findings and biochemical data were consistent with a diagnosis of rickets. Furthermore, X-ray examination results showed typical signs of rickets. He was treated with 1α-hydroxyvitamin D supplementation. Both his height and motor development were gradually improved. Consequently in case of short stature, the rare possibility of vitamin D-dependent rickets type1 should be considered.