X-Linked Hypophosphatemic Rickets: A Pediatric Case Report

X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity wide phenotypic variability, diagnostic delay common in rickets. Short stature, limb deformities, dental anomalies, craniosynostosis chronic pain are this disease. Recently, burosumab, monoclonal antibody anti-fibroblast growth factor 23, was approved for the treatment of Awareness among clinicians must be increased improve care these patients. We present clinical case 4-year-old girl presented with deformities lower limbs an abnormal gait, associated Asymptomatic Arnold Chiari malformation identified. No problems were detected. The diagnosis confirmed identification PHEX mutation. patient developed diarrhea, nephrocalcinosis, hyperparathyroidism secondary conventional therapy phosphate supplements. Burosumab initiated fast increase on serum levels decrease alkaline phosphatase. With description case, we highlight manifestations complications discuss new strategies quality life