A rare case of Vitamin D dependent rickets type II: a case report

ABSTRACT

Vitamin D-dependent type II rickets (VDDRII) is a rare autosomal recessive disorder caused by mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 vitamin D3. It presents with refractory rickets and growth retardation presenting in the first year of life. It is frequently associated with alopecia totalis. Due to target organresistance, its response to vitamin D is poor. The recommended treatment is giving supra physiological dose of 1,25(OH)2 vitamin D3 and a high dose of oral or intravenous calcium. The response of alopecia to treatment is generally poor. We present a 3 ' year-old male child with VDDR II whose alopecia and rickets partially responded to 1,25(OH)2 vitamin D3.