Bone Abstracts

: Inadequately treated hypophosphataemic rickets (HR) in 14-year-old boy: a case report

Background: HR is a rare cause of short stature associated with limb deformities.

Objective: To report the clinical, laboratory and radiologic features of HR in a 14-year-old boy.

Presenting problem: We present the case of the 14-year-old boy, with short stature and deformities of extremities, who complained for limb pain and weakness. The boy was diagnosed with vitamin D deficiency 4 years and was receiving vitamin D. He had a previous surgery for bowleg deformity.

Clinical management: The clinical examination showed signs of rickets/osteomalacia and biochemical evaluation revealed severe renal loss of phosphate with hypophosphatemia, normal calcium, normal PTH, moderately elevated serum alkaline phosphatase, increased GFG23 and normal 1,25 (OH)2D3. Bone densitometry, PET-CT and abdominal ultrasound were normal. The final diagnosis was hypophosphatemic rickets.

Radiographic findings included cupping and fraying of metaphysis, poorly mineralized epiphyseal centers with delayed appearance, irregular widened epiphyseal plates, periosteal reaction, Looser’s zones and bowing of long bones. The child received phosphorus along with vitamin D resulting in remission of pain and weakness.

Discussion: HR occurs rarely, and although it leads to physical development disturbance and to severe deformities of the extremities, it makes a significant medical problem as it may be misdiagnosed or delayed diagnosed. Phosphorus along with vitamin D are administered whereas in case of severe leg deformities, orthopaedic surgical intervention is, additionally, needed.