Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets

Vitamin D dependent rickets (VDDR) type 2 is a very rare hereditary disease which has an autosomal recessive mode of inheritance. Patients with VDDR have mutation in the gene encoding for vitamin receptor on chromosome 12q12-q14, thus averting normal physiological action 1,25 D. It's presents developmental delay motor domain features usually first year life. Alopecia totalis frequent association disease. We are reporting case 5-year-old boy who history difficulty walking since life, gradually progressive weakness course. alopecia months age, progressed to totalis. On investigation, serum calcium was 7.2 mg/dl high alkaline phosphate level 1065 IU/ML reported. The initial treatment started IV followed by 1000mg oral calcium, along dose calcitriol. patient under periodic follow-up showing improvement biochemical parameters. reviewed literature seven out 5 patients had and found enamel hypoplasia all rickets.