vitamin D-Dependent rickets

Vitamin D-Dependent Rickets(VDDR) type II is a rare hereditary autosomal recessive disorder. It occurs due to mutations in the VDR (Vitamin D Receptor) gene which prevent the body from responding to Vitamin D. We present here a case of 3-year-old boy hospitalized recently for the infusion of calcium gluconate along with oral supplements. He presented with Alopecia-observed first after 2 years of age and also had a history of delayed mile stones including delayed walking at the age of 1½ years. On analysis, reduced serum calcium level (7.3 mg/dL) and elevated alkaline phosphatase level (1375 IU/L) were reported at two years of age which lead to the diagnosis. Besides this, the child had deformity in hands, wrist, chest, ankle and both knees which was confirmed by radiography. The treatment included calcium, vitamin D supplements every day and periodic follow-up was conducted for 6 months. Now, at the age of three years, the child was hospitalized for a month and transfused with calcium gluconate for 10 days via Hickmann catheter. The child got discharged after an improvement in the bio-chemical parameters after transfusion.