International Journal of Contemporary Pediatrics
A tale of two cases: early diagnosis and variable outcomes in vitamin D-dependent rickets
Vitamin D-dependent rickets (VDDR) is a rare inherited disorder of vitamin D metabolism or action, presenting with early-onset hypocalcemia, rickets, and growth failure. We report two contrasting cases of VDDR type I and type II that highlight important diagnostic and therapeutic differences. The first case, a female infant presenting with seizures, delayed milestones and limb deformities, showed hypocalcemia, elevated alkaline phosphatase, secondary hyperparathyroidism, and low 1,25-dihydroxyvitamin D levels; gene …